WEBVTT 00:00:01.220 --> 00:00:10.430 [Music] 00:00:06.370 --> 00:00:12.860 I'm dr. Carol Johnson John's it is my 00:00:10.430 --> 00:00:16.279 privilege to serve as president of Alpha 00:00:12.860 --> 00:00:18.410 Omega Alpha Honor Medical Society I'm 00:00:16.279 --> 00:00:21.019 pleased to be able to introduce this 00:00:18.410 --> 00:00:23.560 filmed interview one of the series 00:00:21.019 --> 00:00:26.749 entitled leaders in American medicine 00:00:23.560 --> 00:00:29.749 this series was made possible by a grant 00:00:26.749 --> 00:00:32.570 to AOA for the late Professor David 00:00:29.749 --> 00:00:34.670 Siegel and his widow dr. Beatrice Siegel 00:00:32.570 --> 00:00:36.710 both of them the distinguished 00:00:34.670 --> 00:00:38.720 physicians and members of the Faculty of 00:00:36.710 --> 00:00:42.110 Columbia University College of 00:00:38.720 --> 00:00:44.570 Physicians and Surgeons the idea of 00:00:42.110 --> 00:00:45.830 leaders in American medicine is to 00:00:44.570 --> 00:00:48.950 capture on film 00:00:45.830 --> 00:00:51.110 the spirit and character of some of our 00:00:48.950 --> 00:00:54.050 most distinguished and outstanding 00:00:51.110 --> 00:00:56.300 physicians and surgeons in each instance 00:00:54.050 --> 00:00:58.700 they are interviewed by students or 00:00:56.300 --> 00:01:01.910 colleagues who may be equally 00:00:58.700 --> 00:01:06.729 distinguished themselves I'm pleased to 00:01:01.910 --> 00:01:06.729 present leaders in American medicine 00:01:07.040 --> 00:01:10.579 [Music] 00:01:22.760 --> 00:01:27.120 there's only been in recent years that 00:01:24.930 --> 00:01:30.150 medical genetics can be considered a 00:01:27.120 --> 00:01:32.430 full-fledged medical specialty with its 00:01:30.150 --> 00:01:34.650 own board its own textbooks an integral 00:01:32.430 --> 00:01:37.140 part of the medical school curriculum is 00:01:34.650 --> 00:01:39.150 my pleasure to introduce today one of 00:01:37.140 --> 00:01:40.650 the founders and currently still one of 00:01:39.150 --> 00:01:43.650 the leaders of this field of medical 00:01:40.650 --> 00:01:46.530 genetics dr. Victor a McKusick Victor 00:01:43.650 --> 00:01:48.870 how did you ever get into genetics so 00:01:46.530 --> 00:01:53.010 many years ago well it's a little bit 00:01:48.870 --> 00:01:54.900 difficult to recall I think that I 00:01:53.010 --> 00:01:57.630 usually say an answer to that question 00:01:54.900 --> 00:01:59.910 that it's because I a tentacled twin I'm 00:01:57.630 --> 00:02:01.890 not certain that's the case but it makes 00:01:59.910 --> 00:02:03.479 a good story at any rate or other people 00:02:01.890 --> 00:02:08.100 perhaps put those words into my mouth 00:02:03.479 --> 00:02:11.280 that I was interested in genetics in 00:02:08.100 --> 00:02:13.260 college and some of my first clinical 00:02:11.280 --> 00:02:15.650 investigation in fact my first piece of 00:02:13.260 --> 00:02:18.000 clinical investigation was of a genetics 00:02:15.650 --> 00:02:21.390 problem at genetics disorder the perch 00:02:18.000 --> 00:02:24.090 jaegers syndrome and then one thing led 00:02:21.390 --> 00:02:26.250 to another after that I believe people 00:02:24.090 --> 00:02:29.310 sort of always say that do you start off 00:02:26.250 --> 00:02:34.380 as a cardiologist is that true and not 00:02:29.310 --> 00:02:36.209 really true I think that my cardiology 00:02:34.380 --> 00:02:38.519 activities and my genetics activities 00:02:36.209 --> 00:02:42.330 developed in parallel and it was more a 00:02:38.519 --> 00:02:46.050 matter of cardiology being phased down 00:02:42.330 --> 00:02:48.930 and genetics being phased but my first 00:02:46.050 --> 00:02:51.630 clinical investigation as I said was on 00:02:48.930 --> 00:02:53.970 pets Jagga syndrome and my first book 00:02:51.630 --> 00:02:56.810 was on heritable disorders of connective 00:02:53.970 --> 00:03:00.090 tissue first published in 1956 my 00:02:56.810 --> 00:03:02.670 cardiology texts on cardiovascular sound 00:03:00.090 --> 00:03:04.980 was published in 1958 how did you get 00:03:02.670 --> 00:03:06.780 involved in cardiology sound remember 00:03:04.980 --> 00:03:12.600 that is an interesting story 00:03:06.780 --> 00:03:15.600 yes well the that was I really old that 00:03:12.600 --> 00:03:17.910 to dr. Elliot Newman who called my 00:03:15.600 --> 00:03:20.430 attention to a method for analyzing 00:03:17.910 --> 00:03:22.890 speech sound that had been developed at 00:03:20.430 --> 00:03:28.050 the Bell Laboratories called sound 00:03:22.890 --> 00:03:31.470 spectrography are in a more popular vein 00:03:28.050 --> 00:03:33.480 called a visible speech and he thought 00:03:31.470 --> 00:03:34.620 that this would be useful for analyzing 00:03:33.480 --> 00:03:38.160 the Hertz 00:03:34.620 --> 00:03:41.099 and I seized on that and modified it and 00:03:38.160 --> 00:03:43.950 adapted it to phone a choreography and 00:03:41.099 --> 00:03:46.680 in what we call spectral phone a card er 00:03:43.950 --> 00:03:50.489 fee because the frequency spectrum of 00:03:46.680 --> 00:03:52.110 the sounds were displayed and so 00:03:50.489 --> 00:03:55.799 genetics was really your first love and 00:03:52.110 --> 00:03:57.030 cardiology and offshoot of that yes I 00:03:55.799 --> 00:03:59.489 think you might say that of course 00:03:57.030 --> 00:04:01.920 medical genetics did not exist as a 00:03:59.489 --> 00:04:05.879 discipline in which one got training and 00:04:01.920 --> 00:04:10.799 and pursued in a specific way and that's 00:04:05.879 --> 00:04:13.349 why I went into cardiology but then in 00:04:10.799 --> 00:04:16.560 cardiology I came up against the Marfan 00:04:13.349 --> 00:04:19.200 syndrome and related disorders that have 00:04:16.560 --> 00:04:21.690 important cardiovascular involvement and 00:04:19.200 --> 00:04:24.720 I was often running again on on a 00:04:21.690 --> 00:04:26.700 genetics area heritable disorders of 00:04:24.720 --> 00:04:29.039 connective tissue was your first book 00:04:26.700 --> 00:04:30.570 and has gone through several editions 00:04:29.039 --> 00:04:33.600 and your name is certainly synonymous 00:04:30.570 --> 00:04:34.710 with the field how did this evolve in 00:04:33.600 --> 00:04:37.470 terms of these connective tissue 00:04:34.710 --> 00:04:39.030 disorders well the Marfan syndrome was 00:04:37.470 --> 00:04:42.180 the first member of the group that I 00:04:39.030 --> 00:04:44.940 started and it seemed that since this 00:04:42.180 --> 00:04:47.360 was a single gene disorder that one 00:04:44.940 --> 00:04:49.470 could interpret all the manifold 00:04:47.360 --> 00:04:51.210 features of the condition the 00:04:49.470 --> 00:04:54.330 pleiotropic manifestations of the 00:04:51.210 --> 00:04:56.760 disorder on the basis of a single a 00:04:54.330 --> 00:05:00.330 defect presumably in connective tissue 00:04:56.760 --> 00:05:03.000 and leading from that I looked around 00:05:00.330 --> 00:05:05.250 for other disorders that would answer 00:05:03.000 --> 00:05:07.500 the same description and of course came 00:05:05.250 --> 00:05:11.039 up with ehlers-danlos syndrome and 00:05:07.500 --> 00:05:13.310 osteogenesis imperfecta pseudo xanthoma 00:05:11.039 --> 00:05:16.800 elastica and the mucopolysaccharides 00:05:13.310 --> 00:05:19.080 o'seas you've always had a great talent 00:05:16.800 --> 00:05:20.130 of predicting where a basic defect might 00:05:19.080 --> 00:05:22.770 live from looking at the clinical 00:05:20.130 --> 00:05:24.570 features of a disease how has this 00:05:22.770 --> 00:05:26.729 proven to be true in the heritable 00:05:24.570 --> 00:05:31.110 disorders of connective tissue well at 00:05:26.729 --> 00:05:34.460 it amazes me and grieves me to a 00:05:31.110 --> 00:05:39.150 considerable extent that at this point 00:05:34.460 --> 00:05:40.800 31 years after the first publication of 00:05:39.150 --> 00:05:43.169 heritable disorders of connective tissue 00:05:40.800 --> 00:05:44.969 that we still do not know the nature of 00:05:43.169 --> 00:05:46.860 the basic defect in the Marfan syndrome 00:05:44.969 --> 00:05:50.759 which seems rather 00:05:46.860 --> 00:05:54.979 surprising rather amazing as they say I 00:05:50.759 --> 00:05:58.530 think that the the mucopolysaccharides 00:05:54.979 --> 00:06:01.620 o'seas has certainly panned out very 00:05:58.530 --> 00:06:04.830 well this was a very interesting story 00:06:01.620 --> 00:06:06.389 of the correlation between phenotypic 00:06:04.830 --> 00:06:09.000 differences the classifications of 00:06:06.389 --> 00:06:11.159 different types and the definition of 00:06:09.000 --> 00:06:13.979 different defects in the Apollo 00:06:11.159 --> 00:06:15.330 saccharide degradation one of the skills 00:06:13.979 --> 00:06:17.879 you've had have been to bring together 00:06:15.330 --> 00:06:19.949 basic scientists with clinicians in 00:06:17.879 --> 00:06:20.699 terms of uncovering these details I 00:06:19.949 --> 00:06:22.080 think the story in the 00:06:20.699 --> 00:06:25.590 mucopolysaccharides 00:06:22.080 --> 00:06:29.789 is particularly rewarding in that yes of 00:06:25.590 --> 00:06:33.150 course I owe a great deal to people like 00:06:29.789 --> 00:06:36.360 Liz Neufeld in that regard and it would 00:06:33.150 --> 00:06:38.669 be very difficult to carry the story to 00:06:36.360 --> 00:06:42.270 completion without to the collaboration 00:06:38.669 --> 00:06:43.080 of people like her from the connective 00:06:42.270 --> 00:06:45.539 tissue diseases 00:06:43.080 --> 00:06:47.069 did you is this how you got involved in 00:06:45.539 --> 00:06:48.569 the little people and little people of 00:06:47.069 --> 00:06:51.719 America yes 00:06:48.569 --> 00:06:55.259 substantially that is the case of course 00:06:51.719 --> 00:06:59.009 the skeletal dysplasias represent one 00:06:55.259 --> 00:07:03.000 type of the connective tissue a problem 00:06:59.009 --> 00:07:06.449 and a naturally has a great interest in 00:07:03.000 --> 00:07:10.789 in those conditions I think however that 00:07:06.449 --> 00:07:13.110 it's safe to say that that was a 00:07:10.789 --> 00:07:15.810 practically speaking an outgrowth of the 00:07:13.110 --> 00:07:19.289 army study is more than it was an 00:07:15.810 --> 00:07:21.229 outgrowth of the the studies in 00:07:19.289 --> 00:07:26.370 heritable disorders of connective tissue 00:07:21.229 --> 00:07:29.669 because the I was invited to the 00:07:26.370 --> 00:07:33.090 National Convention of little people of 00:07:29.669 --> 00:07:36.750 America first as a result of some 00:07:33.090 --> 00:07:40.949 publicity which studies of ours in the 00:07:36.750 --> 00:07:43.680 Amish on dwarfism had attracted there 00:07:40.949 --> 00:07:48.419 was a story in the medicine section of 00:07:43.680 --> 00:07:51.509 Time magazine 1964 on our studies of two 00:07:48.419 --> 00:07:56.460 forms of dwarfism in the in the Amish 00:07:51.509 --> 00:07:59.510 and as a result of that one of the 00:07:56.460 --> 00:08:02.830 members of the LPA who was 00:07:59.510 --> 00:08:07.160 the meeting in New Jersey in 1965 00:08:02.830 --> 00:08:11.660 invited me to speak on dwarfism in 00:08:07.160 --> 00:08:13.640 general at that meeting and context you 00:08:11.660 --> 00:08:15.320 got started at that time what has 00:08:13.640 --> 00:08:17.060 happened with you and the little people 00:08:15.320 --> 00:08:18.530 I understand you were one of the first 00:08:17.060 --> 00:08:22.820 honorary members of that organization 00:08:18.530 --> 00:08:25.940 yes an honorary life member of little 00:08:22.820 --> 00:08:29.030 people of America a matter that I'm very 00:08:25.940 --> 00:08:31.460 proud of and I'm also an honorary fellow 00:08:29.030 --> 00:08:34.190 of the American Academy of Orthopedic 00:08:31.460 --> 00:08:36.800 Surgeons of perhaps similar reasons 00:08:34.190 --> 00:08:39.260 because of my work with skeletal 00:08:36.800 --> 00:08:42.800 dysplasias and with limb anomalous and 00:08:39.260 --> 00:08:44.540 so that I say I'm the only a member of 00:08:42.800 --> 00:08:47.980 those two organizations who was more 00:08:44.540 --> 00:08:50.150 than six feet tall and doesn't operate 00:08:47.980 --> 00:08:55.210 could how did you ever get involved with 00:08:50.150 --> 00:08:57.320 the Amish the I'd like to say that the 00:08:55.210 --> 00:08:59.300 involvement with the Amish was sort of a 00:08:57.320 --> 00:09:01.820 fringe benefit of University committee 00:08:59.300 --> 00:09:04.790 work which often is not very rewarding 00:09:01.820 --> 00:09:06.440 but I was a member of the faculty 00:09:04.790 --> 00:09:10.820 Advisory Committee for the Johns Hopkins 00:09:06.440 --> 00:09:14.900 press at the time they got to the in the 00:09:10.820 --> 00:09:18.200 fall of 1962 the manuscript for John 00:09:14.900 --> 00:09:22.220 Hostetler's book called Amish society 00:09:18.200 --> 00:09:24.560 and this was my first serious 00:09:22.220 --> 00:09:26.150 introduction to the Amish and I said my 00:09:24.560 --> 00:09:27.730 goodness this is just the group that 00:09:26.150 --> 00:09:31.580 I've been looking for all these years 00:09:27.730 --> 00:09:34.910 because of their a well-defined 00:09:31.580 --> 00:09:36.830 nature of the society because of their 00:09:34.910 --> 00:09:38.990 good genealogical records and of course 00:09:36.830 --> 00:09:44.540 first and foremost because of their 00:09:38.990 --> 00:09:49.400 inbreeding and I teamed up with dr. 00:09:44.540 --> 00:09:51.830 Hostetler and we were got going on a 00:09:49.400 --> 00:09:53.900 very successful studies within the year 00:09:51.830 --> 00:09:55.850 after that over your first studies in 00:09:53.900 --> 00:10:00.260 the Amish our first studies were 00:09:55.850 --> 00:10:02.930 involved studies of dwarfism because we 00:10:00.260 --> 00:10:06.260 understood that that was unusually 00:10:02.930 --> 00:10:09.650 frequent in the groups and we were able 00:10:06.260 --> 00:10:13.130 to substantiate the fact that this was 00:10:09.650 --> 00:10:17.510 the case we found many cases 00:10:13.130 --> 00:10:24.200 of a previously described although rare 00:10:17.510 --> 00:10:27.080 a form of skeletal dysplasia called the 00:10:24.200 --> 00:10:29.150 Ellis van crevel syndrome named for the 00:10:27.080 --> 00:10:31.280 two pediatricians will describe it 00:10:29.150 --> 00:10:34.580 originally or you know might call it 00:10:31.280 --> 00:10:38.300 six-fingered dwarfism and then we 00:10:34.580 --> 00:10:40.100 discovered a new form of skeletal 00:10:38.300 --> 00:10:43.340 dysplasia that had not previously been 00:10:40.100 --> 00:10:45.800 recognized as a distinct entity which 00:10:43.340 --> 00:10:49.180 was very frequent among the Amish and we 00:10:45.800 --> 00:10:52.700 dubbed that cartilage hair hypoplasia 00:10:49.180 --> 00:10:54.410 because in addition to the involvement 00:10:52.700 --> 00:10:58.220 of cartilage responsible for the 00:10:54.410 --> 00:11:00.400 dwarfism there was thin sparse silky 00:10:58.220 --> 00:11:02.750 hair as well as some other 00:11:00.400 --> 00:11:04.730 manifestations that was only the 00:11:02.750 --> 00:11:07.130 beginning of many other diseases and 00:11:04.730 --> 00:11:08.930 groups that you studied tell us a little 00:11:07.130 --> 00:11:10.820 bit about the other types of studies 00:11:08.930 --> 00:11:17.060 that were conducted in the Amish what 00:11:10.820 --> 00:11:19.750 that taught us well the studies in the 00:11:17.060 --> 00:11:22.160 Amish have been very useful for 00:11:19.750 --> 00:11:25.280 illustrating a number of genetic 00:11:22.160 --> 00:11:28.430 principles so particularly the principle 00:11:25.280 --> 00:11:31.280 of founder effect the effect of 00:11:28.430 --> 00:11:35.210 consanguinity it has been from a 00:11:31.280 --> 00:11:38.260 clinical and genetic disorder point of 00:11:35.210 --> 00:11:42.200 view very useful in the delineation of 00:11:38.260 --> 00:11:44.330 quote new entities entities that have 00:11:42.200 --> 00:11:48.410 not previously been described they occur 00:11:44.330 --> 00:11:50.660 in all of us but because of one reason 00:11:48.410 --> 00:11:53.900 or another particularly the effect that 00:11:50.660 --> 00:11:57.290 our families are small and that we do 00:11:53.900 --> 00:12:00.310 not marry close and so on have not been 00:11:57.290 --> 00:12:05.000 recognized as separate entities 00:12:00.310 --> 00:12:12.590 previously of course in the as outgrowth 00:12:05.000 --> 00:12:16.220 of studies very useful studies of many 00:12:12.590 --> 00:12:17.960 types in the Amish are being done and 00:12:16.220 --> 00:12:20.150 there has been sort of in recent times 00:12:17.960 --> 00:12:23.839 sort of a renaissance of studies among 00:12:20.150 --> 00:12:26.000 the Amish as new molecular genetic 00:12:23.839 --> 00:12:27.380 techniques are brought to bear on the 00:12:26.000 --> 00:12:28.910 populations 00:12:27.380 --> 00:12:33.920 someone asked me recently whether 00:12:28.910 --> 00:12:36.650 thought the the Amish studies were over 00:12:33.920 --> 00:12:40.280 the question was so as all the 00:12:36.650 --> 00:12:43.460 information been wrung out of the Amish 00:12:40.280 --> 00:12:47.480 that one can get I think know that it's 00:12:43.460 --> 00:12:49.670 really just starting because one sees as 00:12:47.480 --> 00:12:51.650 the new molecular genetic techniques are 00:12:49.670 --> 00:12:55.090 brought to bear that one can get much 00:12:51.650 --> 00:12:58.630 more information out of them the 00:12:55.090 --> 00:13:01.910 demonstration of a form of of 00:12:58.630 --> 00:13:04.940 manic-depressive illness linked to 00:13:01.910 --> 00:13:08.330 markers on a short arm of chromosome 11 00:13:04.940 --> 00:13:11.740 for example is a case in point and I I 00:13:08.330 --> 00:13:16.090 think there are many other studies of 00:13:11.740 --> 00:13:19.370 normal traits for example that can be 00:13:16.090 --> 00:13:21.320 investigated in this brings us right 00:13:19.370 --> 00:13:22.760 around to what has been a long-term 00:13:21.320 --> 00:13:24.710 interest but probably your most current 00:13:22.760 --> 00:13:26.840 interests and that is mapping the human 00:13:24.710 --> 00:13:29.060 genome you tell us how you first got 00:13:26.840 --> 00:13:31.250 started and being interested in this 00:13:29.060 --> 00:13:36.230 enormous task of mapping the human gene 00:13:31.250 --> 00:13:39.080 map yes I think that I've always been 00:13:36.230 --> 00:13:41.720 intrigued by genetic maps when in 00:13:39.080 --> 00:13:45.350 genetics textbooks when you saw the 00:13:41.720 --> 00:13:50.090 genetic maps of Drosophila of a corn 00:13:45.350 --> 00:13:52.760 maze one couldn't help but be impressed 00:13:50.090 --> 00:13:55.820 by them and of course the genetic maps 00:13:52.760 --> 00:13:59.420 however a skimpy they were at the in the 00:13:55.820 --> 00:14:01.520 1950s of the mouse that I couldn't help 00:13:59.420 --> 00:14:04.190 but to think that that would be very 00:14:01.520 --> 00:14:11.810 exciting to be able to map the genes in 00:14:04.190 --> 00:14:15.460 in man and we started a study of mapping 00:14:11.810 --> 00:14:18.020 the distance between the colorblindness 00:14:15.460 --> 00:14:22.820 locust are low so I one should say since 00:14:18.020 --> 00:14:26.870 there are two low sorry and g6pd locust 00:14:22.820 --> 00:14:28.640 for example in the early 1960s and we're 00:14:26.870 --> 00:14:32.720 able to show that they're quite close 00:14:28.640 --> 00:14:36.020 together on the X chromosome and then of 00:14:32.720 --> 00:14:39.310 course we conducted other linkage 00:14:36.020 --> 00:14:40.860 studies including Donahue's 00:14:39.310 --> 00:14:43.170 demonstration of the death 00:14:40.860 --> 00:14:45.990 blood group being located on chromosome 00:14:43.170 --> 00:14:48.120 one which is the first assignment of a 00:14:45.990 --> 00:14:50.670 specific gene to a specific one of the 00:14:48.120 --> 00:14:53.370 autosomes did you look at this as sort 00:14:50.670 --> 00:14:55.770 of a an area of just peculiar interest 00:14:53.370 --> 00:14:57.930 or could you foresee that possible uses 00:14:55.770 --> 00:15:03.240 of this which seemed to be coming close 00:14:57.930 --> 00:15:05.370 today I certainly before I saw that I 00:15:03.240 --> 00:15:07.920 believe I don't want to claim to be any 00:15:05.370 --> 00:15:11.520 great prophet I I saw it in the first 00:15:07.920 --> 00:15:16.730 place as linkage as a and mapping as a 00:15:11.520 --> 00:15:20.040 very useful common theme for a a 00:15:16.730 --> 00:15:22.650 division of medical genetics a medical 00:15:20.040 --> 00:15:27.030 genetics group because one had to have 00:15:22.650 --> 00:15:29.730 the the clinical genetics to describe 00:15:27.030 --> 00:15:31.980 phenotype precisely one had to have the 00:15:29.730 --> 00:15:34.140 biochemical genetics and the immuno 00:15:31.980 --> 00:15:36.660 genetics for markers one had to have the 00:15:34.140 --> 00:15:40.710 mathematical genetic spec for linkage 00:15:36.660 --> 00:15:44.430 analysis it was a marvelous unifying 00:15:40.710 --> 00:15:48.180 theme for the research programs of a 00:15:44.430 --> 00:15:52.910 division but at the birth defects 00:15:48.180 --> 00:15:56.640 meeting in 1969 and The Hague in the 00:15:52.910 --> 00:16:00.630 wrap-up lecture at the end I suggested 00:15:56.640 --> 00:16:06.540 that that mapping the human genome would 00:16:00.630 --> 00:16:11.340 be the way to go to to unravel the the 00:16:06.540 --> 00:16:13.890 mystery is about lots of birth defects 00:16:11.340 --> 00:16:16.440 and pointed out that by the linkage 00:16:13.890 --> 00:16:19.080 principle one could do prenatal 00:16:16.440 --> 00:16:23.070 diagnosis pre-symptomatic diagnosis at 00:16:19.080 --> 00:16:25.440 that time of course i was not the first 00:16:23.070 --> 00:16:28.710 one to suggest that because already in 00:16:25.440 --> 00:16:32.330 1956 john edwards in a letter to Lancet 00:16:28.710 --> 00:16:35.070 had suggested that the method of 00:16:32.330 --> 00:16:39.240 amniotic fluid sampling which was used 00:16:35.070 --> 00:16:42.540 at that time for testing for RH problems 00:16:39.240 --> 00:16:46.110 could be used for prenatal diagnosis by 00:16:42.540 --> 00:16:51.420 the linkage principle and recently I 00:16:46.110 --> 00:16:53.850 have been brought a way out by 00:16:51.420 --> 00:16:56.040 colleagues of the fact that hald 00:16:53.850 --> 00:16:58.290 and the holding wrote about everything 00:16:56.040 --> 00:17:02.970 about 30 years before everyone else but 00:16:58.290 --> 00:17:05.820 in the late 1920s in an essay indicated 00:17:02.970 --> 00:17:10.950 that in the future people would be would 00:17:05.820 --> 00:17:12.840 be making diagnosis by linkage to blood 00:17:10.950 --> 00:17:15.210 groups for example which was one of the 00:17:12.840 --> 00:17:17.250 main markets at that time there's 00:17:15.210 --> 00:17:20.790 currently a controversy as to whether a 00:17:17.250 --> 00:17:22.800 large amount of money and resources be 00:17:20.790 --> 00:17:25.860 put into completely mapping the human 00:17:22.800 --> 00:17:28.890 genome by the year 2000 ad are you in 00:17:25.860 --> 00:17:34.680 support of this I think this is a very 00:17:28.890 --> 00:17:36.300 reasonable and and exciting thing that 00:17:34.680 --> 00:17:39.750 should be undertaken 00:17:36.300 --> 00:17:43.920 it said entirely within the realm of 00:17:39.750 --> 00:17:45.930 possibility and already the the results 00:17:43.920 --> 00:17:48.120 of the gene mapping that have been 00:17:45.930 --> 00:17:51.090 achieved to this point illustrate how 00:17:48.120 --> 00:17:56.070 useful information will be I think that 00:17:51.090 --> 00:18:00.390 we will get ahead much faster if we know 00:17:56.070 --> 00:18:03.480 what the full genome genetic 00:18:00.390 --> 00:18:05.550 Constitution of man is you lay the 00:18:03.480 --> 00:18:07.500 groundwork of this number of years ago 00:18:05.550 --> 00:18:09.540 with a creation of Mendelian inheritance 00:18:07.500 --> 00:18:11.640 and man or BIM as you like to call it 00:18:09.540 --> 00:18:14.460 you tell us how this got started and how 00:18:11.640 --> 00:18:19.110 its evolved yes Mendelian inheritance 00:18:14.460 --> 00:18:21.660 and man is a catalog of genes 00:18:19.110 --> 00:18:23.310 essentially the subtitle is catalogs of 00:18:21.660 --> 00:18:27.690 autosomal dominant autosomal recessive 00:18:23.310 --> 00:18:34.350 and x-linked phenotypes but this is 00:18:27.690 --> 00:18:37.800 really an encyclopedia of genes we it 00:18:34.350 --> 00:18:40.890 now has something like four thousand two 00:18:37.800 --> 00:18:45.840 hundred and fifty interests we do not 00:18:40.890 --> 00:18:48.930 create an entry let me say that we 00:18:45.840 --> 00:18:57.960 create only one entry per genetic locus 00:18:48.930 --> 00:19:01.140 so that if two genes let us say the R we 00:18:57.960 --> 00:19:04.170 know different mutations that one in the 00:19:01.140 --> 00:19:07.020 same locus we create only one entry for 00:19:04.170 --> 00:19:11.580 both of those two disorders 00:19:07.020 --> 00:19:15.420 so this is really a a gives you account 00:19:11.580 --> 00:19:17.880 the 40 mm 2200 figure gives you a count 00:19:15.420 --> 00:19:22.910 of how many loci 00:19:17.880 --> 00:19:26.790 some information is available on a 00:19:22.910 --> 00:19:29.640 current computer expansion of this is 00:19:26.790 --> 00:19:30.690 going to allow far greater immediate use 00:19:29.640 --> 00:19:34.350 of the catalog 00:19:30.690 --> 00:19:38.850 yes that's already the case we're very 00:19:34.350 --> 00:19:42.510 happy to have it a online version now it 00:19:38.850 --> 00:19:45.030 the book has gone through seven editions 00:19:42.510 --> 00:19:47.870 it has been on the computer from the 00:19:45.030 --> 00:19:51.990 beginning the I might tell you the way 00:19:47.870 --> 00:19:54.750 it started was as a catalog of x-linked 00:19:51.990 --> 00:19:59.100 traits because when we were studying the 00:19:54.750 --> 00:20:01.710 X chromosome in about 1960 we asked the 00:19:59.100 --> 00:20:04.440 question what genes are on the X 00:20:01.710 --> 00:20:06.390 chromosome and one way of getting an 00:20:04.440 --> 00:20:08.580 answer to that is to make a list of all 00:20:06.390 --> 00:20:11.970 the conditions of traits that are 00:20:08.580 --> 00:20:16.110 x-linked and then we started studying 00:20:11.970 --> 00:20:18.720 the Amish in late 62 or 63 and we 00:20:16.110 --> 00:20:21.330 expected to find new recessive disorders 00:20:18.720 --> 00:20:23.790 among the Amish so in order to know when 00:20:21.330 --> 00:20:26.460 we had a new one we had to know what the 00:20:23.790 --> 00:20:30.090 old ones were so we made a catalog of 00:20:26.460 --> 00:20:32.220 the recessive disorders and then for 00:20:30.090 --> 00:20:37.980 sake of completeness we did the dominant 00:20:32.220 --> 00:20:43.200 disorders and then about 1964 David 00:20:37.980 --> 00:20:45.180 bowling my computer man urged me to put 00:20:43.200 --> 00:20:48.780 it on the computer this was before the 00:20:45.180 --> 00:20:52.650 day of the word processor because to 00:20:48.780 --> 00:20:55.050 avoid the terrific problems of updating 00:20:52.650 --> 00:20:57.780 and introducing errors every time you 00:20:55.050 --> 00:21:01.890 retype it and so it has been on the 00:20:57.780 --> 00:21:05.010 computer since 64 the first edition was 00:21:01.890 --> 00:21:08.100 published in 66 the seventh the hardcopy 00:21:05.010 --> 00:21:12.360 edition was published last year in 86 00:21:08.100 --> 00:21:17.210 and we have an online version which of 00:21:12.360 --> 00:21:17.210 course is continuously updated 00:21:17.599 --> 00:21:24.529 almost daily and and the this is now 00:21:21.799 --> 00:21:30.409 available through the Welsh Medical 00:21:24.529 --> 00:21:32.119 Library generally by dialing in how do 00:21:30.409 --> 00:21:40.939 you keep this enormous amount of 00:21:32.119 --> 00:21:44.779 information updated well the it I of 00:21:40.939 --> 00:21:47.419 course screen they dozen of more 00:21:44.779 --> 00:21:49.729 journals that probably more that come 00:21:47.419 --> 00:21:53.479 across my desk regularly and then I 00:21:49.729 --> 00:21:56.809 screen current contents regularly from 00:21:53.479 --> 00:22:00.709 likely candidates for inclusion and 00:21:56.809 --> 00:22:05.479 those articles that seem promising I get 00:22:00.709 --> 00:22:09.499 hold of copies of and and abstract them 00:22:05.479 --> 00:22:13.209 for incorporation at the same time of 00:22:09.499 --> 00:22:18.679 course I keep up the gene map the the 00:22:13.209 --> 00:22:21.309 the my version of the gene map is fully 00:22:18.679 --> 00:22:24.859 integrated on in the computer version 00:22:21.309 --> 00:22:28.009 with the text so that if you're looking 00:22:24.859 --> 00:22:30.669 at a given entry let us say tuberous 00:22:28.009 --> 00:22:34.849 sclerosis and you want to know has this 00:22:30.669 --> 00:22:37.279 gene been mapped and if so where you can 00:22:34.849 --> 00:22:40.039 just press M on the keyboard and that 00:22:37.279 --> 00:22:42.379 the machine will tell you whether it has 00:22:40.039 --> 00:22:43.729 been mapped and if so where it seems to 00:22:42.379 --> 00:22:46.429 me that much of this original 00:22:43.729 --> 00:22:49.399 information came from your old journal 00:22:46.429 --> 00:22:51.619 clubs where everyone had to hand in 00:22:49.399 --> 00:22:55.519 their contributions in written form yes 00:22:51.619 --> 00:22:58.399 yes indeed and we were having the 00:22:55.519 --> 00:23:01.479 journal clubs which we haven't had for a 00:22:58.399 --> 00:23:04.999 few years and that was a very valuable 00:23:01.479 --> 00:23:07.039 mechanism for keeping me up to date you 00:23:04.999 --> 00:23:08.649 seem to have evolved a lot of meetings 00:23:07.039 --> 00:23:10.969 since then and have been quite 00:23:08.649 --> 00:23:12.799 instrumental in founding a group of 00:23:10.969 --> 00:23:16.239 meetings that are still ongoing many 00:23:12.799 --> 00:23:19.819 years later I recall the Jackson lab 00:23:16.239 --> 00:23:21.619 meetings of the gene mapping meetings 00:23:19.819 --> 00:23:23.689 and the birth defects meetings could you 00:23:21.619 --> 00:23:26.629 tell us how each of these got started 00:23:23.689 --> 00:23:30.010 and what their values meant well first 00:23:26.629 --> 00:23:35.140 of these was the medical genetics course 00:23:30.010 --> 00:23:37.690 at Bar Harbor and in and that's put on 00:23:35.140 --> 00:23:39.580 by a group of us from Johns Hopkins in 00:23:37.690 --> 00:23:42.100 conjunction with members of the staff of 00:23:39.580 --> 00:23:44.980 The Jackson Laboratory plus a number of 00:23:42.100 --> 00:23:47.620 guests lecturers in recent times the 00:23:44.980 --> 00:23:49.750 ratio has been about 12 from Hopkins 12 00:23:47.620 --> 00:23:52.870 from the Jackson staff and about 12 00:23:49.750 --> 00:23:57.160 guest lecturers the that is of course 00:23:52.870 --> 00:23:59.350 not a seminar symposium conference and 00:23:57.160 --> 00:24:04.240 so on I've always insisted that that was 00:23:59.350 --> 00:24:10.290 the case this was first given in 1960 it 00:24:04.240 --> 00:24:16.590 was conceived in 1959 when Anna and I 00:24:10.290 --> 00:24:21.160 visited at the Jackson Laboratory and 00:24:16.590 --> 00:24:23.560 the and it was precisely conceived as I 00:24:21.160 --> 00:24:25.660 recall at testa's restaurant they're 00:24:23.560 --> 00:24:29.170 well known the restaurant on Main Street 00:24:25.660 --> 00:24:31.330 in Bar Harbor on a warm July knew and 00:24:29.170 --> 00:24:33.190 when I was having lunch with John fuller 00:24:31.330 --> 00:24:35.140 who was the assistant director for 00:24:33.190 --> 00:24:39.160 training at the Jackson laboratory and 00:24:35.140 --> 00:24:41.640 it seemed to us that the people at the 00:24:39.160 --> 00:24:46.510 Jackson laboratory which of course is a 00:24:41.640 --> 00:24:49.480 world premiere laboratory for research 00:24:46.510 --> 00:24:52.510 in most genetics that it seemed to me 00:24:49.480 --> 00:24:55.210 that they do in the mouse the same sorts 00:24:52.510 --> 00:24:59.260 of things that we do in man namely 00:24:55.210 --> 00:25:01.390 identified mutations determine or let us 00:24:59.260 --> 00:25:03.970 say deviant phenotypes that's not a 00:25:01.390 --> 00:25:05.980 prejudice the answer to the question of 00:25:03.970 --> 00:25:09.070 whether it is inherited or not they 00:25:05.980 --> 00:25:10.930 determine whether it is inherited how it 00:25:09.070 --> 00:25:14.680 is inherited what the nature of the 00:25:10.930 --> 00:25:17.350 basic defect is and so on and I felt 00:25:14.680 --> 00:25:19.450 that the people at the Jackson 00:25:17.350 --> 00:25:22.780 laboratory had a great deal to teach us 00:25:19.450 --> 00:25:25.150 in medicine and vice versa 00:25:22.780 --> 00:25:27.130 also at that time the teaching of 00:25:25.150 --> 00:25:30.940 genetics in medical schools was in a 00:25:27.130 --> 00:25:33.130 woeful state and one of the big 00:25:30.940 --> 00:25:36.340 objectives of the course was to upgrade 00:25:33.130 --> 00:25:39.160 the teaching of genetics by teaching the 00:25:36.340 --> 00:25:42.430 teachers as it were I seem to remember 00:25:39.160 --> 00:25:42.790 that you had a lineup of chairpersons of 00:25:42.430 --> 00:25:44.290 various 00:25:42.790 --> 00:25:47.910 apartments attending the course of 00:25:44.290 --> 00:25:50.800 students yes we always had a fair 00:25:47.910 --> 00:25:55.090 collection of a department chairman and 00:25:50.800 --> 00:25:57.040 even deans attending the course the the 00:25:55.090 --> 00:25:58.990 deans would be there because of the 00:25:57.040 --> 00:26:00.870 question of what they should be quote 00:25:58.990 --> 00:26:03.550 doing about genetics in their 00:26:00.870 --> 00:26:05.820 institutions but for personal 00:26:03.550 --> 00:26:07.780 professional reasons as well but we had 00:26:05.820 --> 00:26:10.870 representatives from hematology 00:26:07.780 --> 00:26:15.970 endocrinology cardiology and so on 00:26:10.870 --> 00:26:17.830 who it had very valuable uses for 00:26:15.970 --> 00:26:19.980 genetics both in their research and in 00:26:17.830 --> 00:26:23.200 their teaching and also he had 00:26:19.980 --> 00:26:26.410 card-carrying geneticists or 00:26:23.200 --> 00:26:29.890 card-carrying geneticists to be a very 00:26:26.410 --> 00:26:32.520 large proportion of people in in 00:26:29.890 --> 00:26:34.960 genetics in this country and now 00:26:32.520 --> 00:26:37.540 attended the course at some stage of 00:26:34.960 --> 00:26:40.360 their careers about the birth defects 00:26:37.540 --> 00:26:44.230 conferences how did they get started the 00:26:40.360 --> 00:26:47.680 birth defects conferences were started 00:26:44.230 --> 00:26:50.110 first in 1968 there was a series of 00:26:47.680 --> 00:26:56.080 annual conferences here for one week 00:26:50.110 --> 00:27:00.490 each between 68 and 72 inclusive these 00:26:56.080 --> 00:27:02.410 were conferences which were entitled the 00:27:00.490 --> 00:27:08.310 clinical delineation of birth defects 00:27:02.410 --> 00:27:12.600 and they had as their objective the the 00:27:08.310 --> 00:27:17.560 review of birth defects in particular 00:27:12.600 --> 00:27:21.820 sub specialty areas they were aimed to 00:27:17.560 --> 00:27:25.150 bring the the biology the basic science 00:27:21.820 --> 00:27:29.500 related to these defects in these areas 00:27:25.150 --> 00:27:34.390 to bear and to really get people 00:27:29.500 --> 00:27:38.160 thinking about the range of disorders in 00:27:34.390 --> 00:27:41.200 particular areas in the the first 00:27:38.160 --> 00:27:44.620 conference we discussed the skeletal 00:27:41.200 --> 00:27:47.290 dysplasias and limb anomalous phenotypic 00:27:44.620 --> 00:27:51.160 aspects of chromosomal aberrations and 00:27:47.290 --> 00:27:54.320 so on then we went through disorders of 00:27:51.160 --> 00:27:56.610 the nervous system muscle disorders 00:27:54.320 --> 00:27:59.549 dermatological disorders disorders of 00:27:56.610 --> 00:28:02.250 the eye and ear and and so on and a 00:27:59.549 --> 00:28:05.390 systematic way the I think the 00:28:02.250 --> 00:28:07.289 conference's themselves and the and the 00:28:05.390 --> 00:28:12.210 publications that came out of them I 00:28:07.289 --> 00:28:17.100 think we're quite useful we had in 00:28:12.210 --> 00:28:20.909 addition to presentations by people from 00:28:17.100 --> 00:28:23.940 all over the world in relation to 00:28:20.909 --> 00:28:26.460 particular problems we had at midday 00:28:23.940 --> 00:28:30.059 each day for the five days of the week 00:28:26.460 --> 00:28:32.640 as you'll recall case presentations in 00:28:30.059 --> 00:28:35.370 which we would present actual patients 00:28:32.640 --> 00:28:42.539 and their families and this I think was 00:28:35.370 --> 00:28:45.720 a a very fine part of the of the program 00:28:42.539 --> 00:28:48.630 really I think everyone appreciated 00:28:45.720 --> 00:28:51.809 seeing patients in the flesh as it were 00:28:48.630 --> 00:28:54.289 rather than just hearing about them or 00:28:51.809 --> 00:28:57.090 even even seeing them as only 00:28:54.289 --> 00:28:58.529 photographs this really did serve as the 00:28:57.090 --> 00:29:02.429 model for delineating a lot of 00:28:58.529 --> 00:29:06.330 heterogeneity in disease and I call the 00:29:02.429 --> 00:29:08.669 meetings moved on to other venues after 00:29:06.330 --> 00:29:12.870 that but our returning home next year 00:29:08.669 --> 00:29:16.620 yes yes they will be here in Baltimore 00:29:12.870 --> 00:29:20.179 again in 1988 to 20 years after the 00:29:16.620 --> 00:29:23.399 first of these conferences in 1968 the 00:29:20.179 --> 00:29:25.620 other major group of meetings that you 00:29:23.399 --> 00:29:28.620 helped found were the gene mapping 00:29:25.620 --> 00:29:31.110 meetings which are now becoming enormous 00:29:28.620 --> 00:29:34.649 ly popular and successful can you tell 00:29:31.110 --> 00:29:38.700 us how those started the first of those 00:29:34.649 --> 00:29:42.440 was held in New Haven in 1973 and Frank 00:29:38.700 --> 00:29:47.700 Ruddle and deserves as much credit as re 00:29:42.440 --> 00:29:50.279 starting those and the it was right at 00:29:47.700 --> 00:29:52.350 that point that the gene mapping was 00:29:50.279 --> 00:29:54.779 really picking up speed because of the 00:29:52.350 --> 00:29:57.620 addition of the method of somatic cell 00:29:54.779 --> 00:30:02.460 hybridization to the previous family 00:29:57.620 --> 00:30:03.950 method for study and and the it started 00:30:02.460 --> 00:30:08.029 as a very small 00:30:03.950 --> 00:30:10.460 group with aficionados and they feel 00:30:08.029 --> 00:30:15.320 getting together to compare their 00:30:10.460 --> 00:30:20.470 results and the now the ninth was just 00:30:15.320 --> 00:30:24.320 held in Paris a an enormous meeting with 00:30:20.470 --> 00:30:26.929 500 or so people there I suppose but 00:30:24.320 --> 00:30:32.320 there's still a sort of a hardcore a 00:30:26.929 --> 00:30:36.909 group that has been carrying on the work 00:30:32.320 --> 00:30:39.340 it it's interesting that the that the 00:30:36.909 --> 00:30:42.260 composition of the people coming has 00:30:39.340 --> 00:30:44.059 evolved somewhat the the molecular 00:30:42.260 --> 00:30:48.350 geneticists have gotten into the act 00:30:44.059 --> 00:30:51.590 fortunately a much more so that those 00:30:48.350 --> 00:30:56.480 methods are added to the previous 00:30:51.590 --> 00:31:05.769 methods tell us how you got to all this 00:30:56.480 --> 00:31:10.130 from a small town in Maine yes right i 00:31:05.769 --> 00:31:13.490 developed a fixation on going to Johns 00:31:10.130 --> 00:31:16.970 Hopkins to medical school that at one 00:31:13.490 --> 00:31:19.070 stage and I applied to only one medical 00:31:16.970 --> 00:31:21.799 school and it was Johns Hopkins and I 00:31:19.070 --> 00:31:25.639 think the the reason was you know small 00:31:21.799 --> 00:31:30.649 things that determine what one does so 00:31:25.639 --> 00:31:36.139 often about in Time magazine in about 00:31:30.649 --> 00:31:37.700 1938 there was a story about dr. Henry 00:31:36.139 --> 00:31:40.370 Siegrist who was the professor of the 00:31:37.700 --> 00:31:45.250 history of medicine here and somewhat 00:31:40.370 --> 00:31:49.010 controversial and a person and in his 00:31:45.250 --> 00:31:54.590 left-wing view was in view in the 00:31:49.010 --> 00:31:58.130 opinion of many rather extreme but this 00:31:54.590 --> 00:32:02.539 was a very exciting at the paper very 00:31:58.130 --> 00:32:03.860 exciting account of how he had come here 00:32:02.539 --> 00:32:06.620 as the professor of the history of 00:32:03.860 --> 00:32:09.110 Medicine on the invitation of that dr. 00:32:06.620 --> 00:32:11.299 Welch and there was quite a lot about 00:32:09.110 --> 00:32:13.010 dr. Welch in it also and I thought 00:32:11.299 --> 00:32:15.800 Hopkins was really 00:32:13.010 --> 00:32:17.420 a place that I wanted to go so I think 00:32:15.800 --> 00:32:21.290 that really that was the first time I'd 00:32:17.420 --> 00:32:25.640 heard about Hopkins and so I came down 00:32:21.290 --> 00:32:27.650 here in arriving in Baltimore for the 00:32:25.640 --> 00:32:31.000 first time not having been south of New 00:32:27.650 --> 00:32:36.290 York before arriving in Baltimore on 00:32:31.000 --> 00:32:39.560 Washington's Birthday 1943 to start 00:32:36.290 --> 00:32:41.360 medical school the 1st of March and this 00:32:39.560 --> 00:32:43.760 was during the war and the medical 00:32:41.360 --> 00:32:47.810 school went around the calendar 9 months 00:32:43.760 --> 00:32:51.140 at a time and the I'd been here 00:32:47.810 --> 00:32:54.170 uninterruptedly since Washington's 00:32:51.140 --> 00:33:00.710 birthday 1943 I'd been a member of the 00:32:54.170 --> 00:33:02.990 faculty since 1947 so 40 years you're 00:33:00.710 --> 00:33:04.460 well known as a history buff and I guess 00:33:02.990 --> 00:33:07.160 the history of medicine brought you here 00:33:04.460 --> 00:33:09.860 how is the your knowledge and love of 00:33:07.160 --> 00:33:12.560 history affected your career and how 00:33:09.860 --> 00:33:16.990 you've tried to use precedents doozie 00:33:12.560 --> 00:33:21.830 I think that there's a to a large extent 00:33:16.990 --> 00:33:25.520 history and genetics a dovetail very 00:33:21.830 --> 00:33:29.330 well the genetics is is really the 00:33:25.520 --> 00:33:32.000 history of the organism of the history 00:33:29.330 --> 00:33:37.450 of the organism is written in our genome 00:33:32.000 --> 00:33:41.000 for for example the that they fit in 00:33:37.450 --> 00:33:44.390 very well I I've always been interested 00:33:41.000 --> 00:33:47.810 in the history of any area that I've 00:33:44.390 --> 00:33:49.370 worked in as you know very much 00:33:47.810 --> 00:33:53.480 interested in the history of heart 00:33:49.370 --> 00:33:55.040 sounds and and have been certainly 00:33:53.480 --> 00:34:00.130 interested in the history of medical 00:33:55.040 --> 00:34:02.330 genetics did your love of history 00:34:00.130 --> 00:34:05.420 helping your decision to become the 00:34:02.330 --> 00:34:07.899 Osler chairman of medicine it didn't 00:34:05.420 --> 00:34:13.820 hurt any yes no of course I was 00:34:07.899 --> 00:34:15.710 tremendously pleased that point the 00:34:13.820 --> 00:34:19.100 point of view I am a undoubtedly a 00:34:15.710 --> 00:34:20.060 traditionalist and when the proposal was 00:34:19.100 --> 00:34:23.150 made 00:34:20.060 --> 00:34:25.790 to me I had to watch myself that I would 00:34:23.150 --> 00:34:31.820 be unrealistic in jumping at the 00:34:25.790 --> 00:34:36.140 opportunity and the certainly I was very 00:34:31.820 --> 00:34:40.250 pleased and honored to to be and the 00:34:36.140 --> 00:34:42.890 seventh in the succession from from 00:34:40.250 --> 00:34:44.990 mostly as a chairman of Medicine you 00:34:42.890 --> 00:34:46.160 spent 12 years I believe as chairman the 00:34:44.990 --> 00:34:49.880 Department of Medicine what do you 00:34:46.160 --> 00:34:54.650 recall as your joys and successes in 00:34:49.880 --> 00:34:58.850 that job well I enjoyed the job at least 00:34:54.650 --> 00:35:00.820 I like to say that I enjoy about 97% of 00:34:58.850 --> 00:35:04.790 it and I could put up with the other 3% 00:35:00.820 --> 00:35:07.580 or that and certainly the contacts with 00:35:04.790 --> 00:35:10.760 medical students with who are excellent 00:35:07.580 --> 00:35:13.550 at Hopkins with the house officers who 00:35:10.760 --> 00:35:16.190 are equally excellent with the fellows 00:35:13.550 --> 00:35:18.700 with the a junior faculty and all the 00:35:16.190 --> 00:35:21.370 faculty for that matter and the 00:35:18.700 --> 00:35:25.670 continuing extensive clinical 00:35:21.370 --> 00:35:30.640 involvement I enjoyed very much I think 00:35:25.670 --> 00:35:35.420 that that was very important as far as 00:35:30.640 --> 00:35:40.340 successes I think that the preservation 00:35:35.420 --> 00:35:45.260 and the renovation extension expansion 00:35:40.340 --> 00:35:48.140 of the tradition of strong clinical 00:35:45.260 --> 00:35:52.790 medicine and strong clinical teaching at 00:35:48.140 --> 00:35:56.030 Hopkins the firm system for preserving 00:35:52.790 --> 00:35:59.290 the the best qualities of the House 00:35:56.030 --> 00:36:02.030 staff teaching program I think those 00:35:59.290 --> 00:36:04.310 aspects that I'm proudest of in 00:36:02.030 --> 00:36:06.260 connection with my tenure teaching has 00:36:04.310 --> 00:36:08.810 always been one of your great forte 00:36:06.260 --> 00:36:11.330 certainly as one of your former students 00:36:08.810 --> 00:36:13.310 as a fellow I remember that as do all of 00:36:11.330 --> 00:36:16.220 the many hundreds I think now fellows 00:36:13.310 --> 00:36:18.380 that we know how did you get involved in 00:36:16.220 --> 00:36:20.840 the training of medical geneticists and 00:36:18.380 --> 00:36:24.490 what has been the the interaction that 00:36:20.840 --> 00:36:24.490 has occurred as a result of that 00:36:25.569 --> 00:36:38.000 that's somewhat difficult question to 00:36:29.930 --> 00:36:41.480 answer it's I think yet the when I I 00:36:38.000 --> 00:36:48.019 took you see I took over the operation 00:36:41.480 --> 00:36:53.990 of what we renamed the more clinic July 00:36:48.019 --> 00:36:56.420 1 1957 and there was a training program 00:36:53.990 --> 00:37:00.319 there of fellows that dr. Moore had 00:36:56.420 --> 00:37:05.289 initiated and I continued and redirected 00:37:00.319 --> 00:37:08.869 that program along genetics lines and we 00:37:05.289 --> 00:37:13.910 unfortunately had the funding to develop 00:37:08.869 --> 00:37:19.819 a very large a fellowship program and it 00:37:13.910 --> 00:37:21.710 was an exciting area for that I think 00:37:19.819 --> 00:37:24.200 that's the best way I can answer your 00:37:21.710 --> 00:37:26.599 question you often been called an 00:37:24.200 --> 00:37:29.059 Anglophile and many of your fellows have 00:37:26.599 --> 00:37:31.009 been of from Great Britain could you 00:37:29.059 --> 00:37:35.750 tell us how this has influenced your 00:37:31.009 --> 00:37:39.759 thoughts yes well some of my very most 00:37:35.750 --> 00:37:45.529 able fellows came from England I had 00:37:39.759 --> 00:37:50.779 previous to that time we had a good many 00:37:45.529 --> 00:37:52.519 friends in England and and and I went to 00:37:50.779 --> 00:37:55.700 England on a honeymoon as a matter of 00:37:52.519 --> 00:37:59.200 fact and we had the exchanges from guys 00:37:55.700 --> 00:38:04.849 Hospital to Johns Hopkins had always 00:37:59.200 --> 00:38:07.880 been created a link with England and so 00:38:04.849 --> 00:38:11.269 when I became involved in the fellowship 00:38:07.880 --> 00:38:14.000 program and the more clinic I contacted 00:38:11.269 --> 00:38:16.730 friends in England and who informed 00:38:14.000 --> 00:38:18.859 young people that they had registrar's 00:38:16.730 --> 00:38:22.339 and suchlike of the opportunity in 00:38:18.859 --> 00:38:25.000 Baltimore and many of them came to this 00:38:22.339 --> 00:38:28.309 country some now very distinguished 00:38:25.000 --> 00:38:29.330 people in medicine both in this country 00:38:28.309 --> 00:38:32.030 and in 00:38:29.330 --> 00:38:33.950 when your wife Ann has been part of the 00:38:32.030 --> 00:38:36.800 training program all along and I 00:38:33.950 --> 00:38:38.750 certainly remember that not only as your 00:38:36.800 --> 00:38:41.510 wife but she stimulated my first paper 00:38:38.750 --> 00:38:44.180 written to Johns Hopkins how did you 00:38:41.510 --> 00:38:46.910 meet at and how she's helped in building 00:38:44.180 --> 00:38:48.860 this huge group of geneticists well 00:38:46.910 --> 00:38:52.220 she's been a very important part of it 00:38:48.860 --> 00:38:54.140 needless to say we first met when she 00:38:52.220 --> 00:38:57.040 first came to Hopkins to medical school 00:38:54.140 --> 00:39:00.350 which was just as I was starting to 00:38:57.040 --> 00:39:03.950 enter and she was starting medical 00:39:00.350 --> 00:39:05.990 school and we I learned about her 00:39:03.950 --> 00:39:09.770 existence from my cousin who had worked 00:39:05.990 --> 00:39:11.210 with her at Oak Ridge and and then we 00:39:09.770 --> 00:39:13.300 were married at the end of her third 00:39:11.210 --> 00:39:17.830 year of medical school 00:39:13.300 --> 00:39:17.830 she did she have an interest in genetics 00:39:17.990 --> 00:39:24.940 she certainly has had an interest in 00:39:21.050 --> 00:39:28.340 genetics her main activity and 00:39:24.940 --> 00:39:30.740 subspecialty area is Rheumatology but 00:39:28.340 --> 00:39:34.340 she's always had a great interest in 00:39:30.740 --> 00:39:38.000 genetics when you started in medical 00:39:34.340 --> 00:39:40.660 genetics back in 57 wasn't there weren't 00:39:38.000 --> 00:39:43.730 many people in clinical departments 00:39:40.660 --> 00:39:45.530 doing medical genetics so now we have an 00:39:43.730 --> 00:39:47.540 American Board of Medical Genetics and a 00:39:45.530 --> 00:39:51.140 full specialty can you tell us a bit 00:39:47.540 --> 00:39:53.780 about your involvement as to how you 00:39:51.140 --> 00:39:59.420 helped genetics achieve its role now as 00:39:53.780 --> 00:40:01.970 a medical specialty and under the aegis 00:39:59.420 --> 00:40:03.080 of dr. Harvey who was chairman of the 00:40:01.970 --> 00:40:07.430 Department of Medicine and my 00:40:03.080 --> 00:40:11.930 predecessor in that role in July on July 00:40:07.430 --> 00:40:13.310 1 1957 I started a division of medical 00:40:11.930 --> 00:40:16.040 genetics in the Department of Medicine 00:40:13.310 --> 00:40:18.380 here it's of interest that precisely at 00:40:16.040 --> 00:40:21.440 the same time in Seattle 00:40:18.380 --> 00:40:22.700 I know Motel ski he started a division 00:40:21.440 --> 00:40:24.710 of medical genetics within the 00:40:22.700 --> 00:40:27.110 Department of Medicine there I think 00:40:24.710 --> 00:40:32.240 that this was the first these were 00:40:27.110 --> 00:40:35.450 really the first divisions full-fledged 00:40:32.240 --> 00:40:38.660 honest-to-goodness divisions within a 00:40:35.450 --> 00:40:40.140 major clinical departments started in 00:40:38.660 --> 00:40:43.459 this country and 00:40:40.140 --> 00:40:46.920 yet they really served as models for 00:40:43.459 --> 00:40:49.140 bringing genetics into the mainstream of 00:40:46.920 --> 00:40:52.459 clinical medicine where do you see 00:40:49.140 --> 00:40:56.549 genetics now is a clinical specialty 00:40:52.459 --> 00:41:00.869 well I think it's never had never been 00:40:56.549 --> 00:41:03.479 stronger of course seems to have evolved 00:41:00.869 --> 00:41:05.219 as a private practice specialty as well 00:41:03.479 --> 00:41:07.400 is this something that you envisioned 00:41:05.219 --> 00:41:10.759 when you started this division no I 00:41:07.400 --> 00:41:14.910 really thought that it was likely that 00:41:10.759 --> 00:41:16.769 for the foreseeable future for at least 00:41:14.910 --> 00:41:18.779 as long as I could foresee which I 00:41:16.769 --> 00:41:21.359 thought was a fairly length length of 00:41:18.779 --> 00:41:26.969 time that it would be an academic 00:41:21.359 --> 00:41:31.640 Medical Center based activity strictly I 00:41:26.969 --> 00:41:35.839 couldn't see it as a private practice 00:41:31.640 --> 00:41:37.440 adventure but I think I was 00:41:35.839 --> 00:41:40.799 short-sighted as far as that was 00:41:37.440 --> 00:41:43.319 concerned now that you have returned 00:41:40.799 --> 00:41:44.670 from the host their chairs office back 00:41:43.319 --> 00:41:47.430 to your original office and the more 00:41:44.670 --> 00:41:48.529 clinic what are your major goals for the 00:41:47.430 --> 00:41:52.559 next few years 00:41:48.529 --> 00:41:58.829 my main interest these days is in gene 00:41:52.559 --> 00:42:02.880 mapping and and this is what what my 00:41:58.829 --> 00:42:04.709 main images into these days well what is 00:42:02.880 --> 00:42:07.859 your ultimate goal in this season 00:42:04.709 --> 00:42:10.109 well I'm pushing hard for a complete 00:42:07.859 --> 00:42:14.279 mapping within a reasonable length of 00:42:10.109 --> 00:42:17.869 time the human genome Victor you 00:42:14.279 --> 00:42:20.699 mentioned that you were a twin and that 00:42:17.869 --> 00:42:23.729 interest in twins perhaps was one of the 00:42:20.699 --> 00:42:26.249 facts that got you into genetics how are 00:42:23.729 --> 00:42:34.709 hell stead of being a twin influence 00:42:26.249 --> 00:42:37.859 your development we went a different 00:42:34.709 --> 00:42:40.469 pair this when we went to college and of 00:42:37.859 --> 00:42:41.940 course Vincent went into the law and I 00:42:40.469 --> 00:42:45.150 went into medicine 00:42:41.940 --> 00:42:47.249 eventually in many ways I think that law 00:42:45.150 --> 00:42:50.509 and medicine are not as Farrah Paradis 00:42:47.249 --> 00:42:53.519 might on the surface seem to be the case 00:42:50.509 --> 00:42:56.279 but I have this 00:42:53.519 --> 00:42:59.279 we have followed his career including 00:42:56.279 --> 00:43:02.609 his health status very closely and 00:42:59.279 --> 00:43:05.339 because identical twins I of course 00:43:02.609 --> 00:43:08.759 believe being a geneticist have closed 00:43:05.339 --> 00:43:13.769 health experiences and some years ago I 00:43:08.759 --> 00:43:16.489 had a kidney stone and a few weeks after 00:43:13.769 --> 00:43:19.829 that my brother had a kidney stone and 00:43:16.489 --> 00:43:22.769 and in recent weeks we've discovered 00:43:19.829 --> 00:43:28.949 that we developed dental root abscesses 00:43:22.769 --> 00:43:31.140 at the same time but the we enjoy seeing 00:43:28.949 --> 00:43:32.699 each other of course he's in Maine and 00:43:31.140 --> 00:43:33.899 I'm down here but we see each other in 00:43:32.699 --> 00:43:36.509 the summertime in particular 00:43:33.899 --> 00:43:39.179 occasionally other times were you 00:43:36.509 --> 00:43:44.459 competitive as students and your careers 00:43:39.179 --> 00:43:48.269 I was not aware of any competitiveness 00:43:44.459 --> 00:43:50.880 in the early stages we went to very 00:43:48.269 --> 00:43:54.059 small schools we were educated in one 00:43:50.880 --> 00:43:56.309 room school house from eight years of 00:43:54.059 --> 00:43:59.159 Grammar School in the same one-room 00:43:56.309 --> 00:44:02.309 schoolhouse and we were in a very small 00:43:59.159 --> 00:44:05.789 high school there were 28 and graduating 00:44:02.309 --> 00:44:08.939 members of our high school class and so 00:44:05.789 --> 00:44:13.429 and Vincent was the valedictorian and I 00:44:08.939 --> 00:44:16.529 was the salutatorian for the in the 00:44:13.429 --> 00:44:19.139 graduation ceremony so the the I wasn't 00:44:16.529 --> 00:44:21.239 really aware of any great 00:44:19.139 --> 00:44:24.239 competitiveness but although I suppose 00:44:21.239 --> 00:44:26.849 it was there I understand you recently 00:44:24.239 --> 00:44:31.109 went under another convocation ceremony 00:44:26.849 --> 00:44:33.569 together oh yes I have several honorary 00:44:31.109 --> 00:44:35.579 degrees but the one that I feel 00:44:33.569 --> 00:44:37.829 particularly pleased with was one from 00:44:35.579 --> 00:44:41.819 the University of Maine a few years ago 00:44:37.829 --> 00:44:44.969 it said Vincent and he got honorary 00:44:41.819 --> 00:44:47.669 degrees at the same time how did that 00:44:44.969 --> 00:44:50.549 occur well he he was the commencement 00:44:47.669 --> 00:44:54.179 speaker and that I am told on good 00:44:50.549 --> 00:44:55.709 authority that the president of the 00:44:54.179 --> 00:44:58.259 university announced that the Board of 00:44:55.709 --> 00:44:59.999 Trustees meeting that they had arranged 00:44:58.259 --> 00:45:02.819 for the Chief Justice of the state 00:44:59.999 --> 00:45:04.440 Supreme Court to give the commencement 00:45:02.819 --> 00:45:08.340 address and 00:45:04.440 --> 00:45:10.620 namely Vincent mcusic and Tibby Russell 00:45:08.340 --> 00:45:12.870 from the Jackson Laboratory who was on 00:45:10.620 --> 00:45:14.520 the board of trustees said you should 00:45:12.870 --> 00:45:17.160 give an honorary degree to Victor also 00:45:14.520 --> 00:45:20.610 so I owe it to Elizabeth she'll wrestle 00:45:17.160 --> 00:45:22.170 and I got a degree at the same time oh I 00:45:20.610 --> 00:45:23.970 know that you've gotten many honorary 00:45:22.170 --> 00:45:25.560 degrees not all of them following your 00:45:23.970 --> 00:45:27.410 brother's footsteps can you tell us 00:45:25.560 --> 00:45:30.390 which ones were most important to you 00:45:27.410 --> 00:45:33.180 well I have several from abroad and 00:45:30.390 --> 00:45:35.580 several from this country I have one 00:45:33.180 --> 00:45:37.710 from the University of Helsinki which is 00:45:35.580 --> 00:45:40.800 very interesting because they give you a 00:45:37.710 --> 00:45:45.090 sword when you get the honorary degree 00:45:40.800 --> 00:45:48.210 as well as a hat with a green band 00:45:45.090 --> 00:45:51.290 around it for medicine this was a very 00:45:48.210 --> 00:45:55.080 interesting ceremony and and so on I 00:45:51.290 --> 00:46:00.450 value an honorary degree from Edinburgh 00:45:55.080 --> 00:46:03.810 and from Liverpool and in from Memorial 00:46:00.450 --> 00:46:05.640 University in Newfoundland and and from 00:46:03.810 --> 00:46:08.970 the University of Rochester and from 00:46:05.640 --> 00:46:11.670 Tufts so where I went to college without 00:46:08.970 --> 00:46:14.550 a degree without a bachelor's degree I 00:46:11.670 --> 00:46:16.620 have not already a doctorate I came down 00:46:14.550 --> 00:46:21.900 here at the Medical School without 00:46:16.620 --> 00:46:23.190 completing the addition to your many 00:46:21.900 --> 00:46:25.110 honorary degrees you've received 00:46:23.190 --> 00:46:27.240 numerous awards one of which I believe 00:46:25.110 --> 00:46:28.710 is the Allan award of the American 00:46:27.240 --> 00:46:31.110 Society of Human Genetics can you tell 00:46:28.710 --> 00:46:33.150 us about some of the others I think the 00:46:31.110 --> 00:46:36.150 only other one that I think of is a 00:46:33.150 --> 00:46:39.990 Gairdner award which I certainly prize 00:46:36.150 --> 00:46:41.850 very much actually in terms of your 00:46:39.990 --> 00:46:43.500 writings you've certainly put out 00:46:41.850 --> 00:46:48.090 numerous papers and books but you've 00:46:43.500 --> 00:46:52.110 also a very active editorship role could 00:46:48.090 --> 00:46:55.290 you mention some of these to us I took 00:46:52.110 --> 00:46:58.650 over a few years ago from dr. Harvey as 00:46:55.290 --> 00:47:00.750 editor of Medicine this is medicine of 00:46:58.650 --> 00:47:05.180 course is a very distinguished reviewed 00:47:00.750 --> 00:47:08.850 journal that were started in 1922 and I 00:47:05.180 --> 00:47:10.420 took it over in my 65th year and it was 00:47:08.850 --> 00:47:13.990 the 65th year of 00:47:10.420 --> 00:47:17.380 of Medicine when I took it over the in 00:47:13.990 --> 00:47:19.960 the second place Frank Ruddle and I have 00:47:17.380 --> 00:47:24.579 started a new journal called genomics 00:47:19.960 --> 00:47:26.440 which the first edition of which the 00:47:24.579 --> 00:47:27.040 first issue of which is appearing this 00:47:26.440 --> 00:47:31.900 month 00:47:27.040 --> 00:47:34.780 this is genomic says is devoted to gene 00:47:31.900 --> 00:47:37.869 mapping and nucleotide sequencing of the 00:47:34.780 --> 00:47:39.220 human genome and other genomes you think 00:47:37.869 --> 00:47:44.200 the last edition will be in the year 00:47:39.220 --> 00:47:47.799 2000 I hope the name genomics 00:47:44.200 --> 00:47:50.980 incidentally is is a name for this field 00:47:47.799 --> 00:47:53.710 of mapping and sequencing and I think 00:47:50.980 --> 00:47:56.460 it's a very useful term it was a 10 that 00:47:53.710 --> 00:48:00.160 Tom Roderick at the Jackson Laboratory 00:47:56.460 --> 00:48:05.200 suggested and I think it might just 00:48:00.160 --> 00:48:07.299 catch on one of your major areas in 00:48:05.200 --> 00:48:08.619 teaching has been in teaching the 00:48:07.299 --> 00:48:10.420 history of the science that you're 00:48:08.619 --> 00:48:13.299 dealing with and as well as the history 00:48:10.420 --> 00:48:15.940 of the institution understand that one 00:48:13.299 --> 00:48:19.359 of your teaching activities was a tour 00:48:15.940 --> 00:48:20.740 of the the Johns Hopkins Hospital to 00:48:19.359 --> 00:48:22.480 your medical students could tell us a 00:48:20.740 --> 00:48:25.359 bit about that I guess what you're 00:48:22.480 --> 00:48:27.910 referring to is the is the tutorial that 00:48:25.359 --> 00:48:29.770 I have with the medical students who are 00:48:27.910 --> 00:48:32.260 taking the owsla clerkship I meet with 00:48:29.770 --> 00:48:34.750 them once a week one of the purposes of 00:48:32.260 --> 00:48:38.109 the tutorial is to give them some 00:48:34.750 --> 00:48:39.579 instruction in biomedical writing which 00:48:38.109 --> 00:48:42.309 they don't get elsewhere in the 00:48:39.579 --> 00:48:45.400 curriculum but another purpose is to 00:48:42.309 --> 00:48:47.140 give them instruction and medical 00:48:45.400 --> 00:48:50.619 history both the history of the 00:48:47.140 --> 00:48:53.680 institution as you say and and the 00:48:50.619 --> 00:48:56.559 history of a clinical medicine in the 00:48:53.680 --> 00:48:59.470 Latta connection I have them take a 00:48:56.559 --> 00:49:01.780 particular section of an early edition 00:48:59.470 --> 00:49:04.359 of aussolas textbook and compare it with 00:49:01.780 --> 00:49:06.339 the comparable section in a present-day 00:49:04.359 --> 00:49:10.510 textbook because the objective is to 00:49:06.339 --> 00:49:13.150 give them perspective on medicine in 00:49:10.510 --> 00:49:14.559 general but the another thing we do 00:49:13.150 --> 00:49:17.530 which is fun and I think has some 00:49:14.559 --> 00:49:19.869 historical value is at the end of the 00:49:17.530 --> 00:49:22.059 quarter the tradition is that we go on a 00:49:19.869 --> 00:49:22.750 pilgrimage to the administration 00:49:22.059 --> 00:49:27.970 building 00:49:22.750 --> 00:49:29.710 and we do two things in particular we go 00:49:27.970 --> 00:49:32.500 to the room on the second floor where 00:49:29.710 --> 00:49:36.730 OWSLA wrote his textbook in 1891 and 00:49:32.500 --> 00:49:38.500 then we go up on the dome I tell them 00:49:36.730 --> 00:49:42.210 that's the pinnacle of that clinical 00:49:38.500 --> 00:49:46.270 experience at Johns Hopkins among your 00:49:42.210 --> 00:49:48.580 activities you've been working many 00:49:46.270 --> 00:49:50.560 hours for many years and yet have a very 00:49:48.580 --> 00:49:57.070 active family life you tell us how you 00:49:50.560 --> 00:49:59.140 managed this and I've been blessed with 00:49:57.070 --> 00:50:01.060 three children and none of them are 00:49:59.140 --> 00:50:02.950 going into medicine but that's alright 00:50:01.060 --> 00:50:06.250 they're doing things that we're very 00:50:02.950 --> 00:50:07.780 proud of Victor know that you have 00:50:06.250 --> 00:50:09.130 contributed a lot to the genetic 00:50:07.780 --> 00:50:10.510 knowledge of your fellows but I 00:50:09.130 --> 00:50:12.100 understand that one of your fellows 00:50:10.510 --> 00:50:14.980 genomes contributed a lot to our 00:50:12.100 --> 00:50:15.730 knowledge genetic map did you tell us 00:50:14.980 --> 00:50:18.160 about that 00:50:15.730 --> 00:50:19.090 I guess you're referring to the Donoghue 00:50:18.160 --> 00:50:23.290 chromosome 00:50:19.090 --> 00:50:25.090 - Roger Donahue and his involvement in 00:50:23.290 --> 00:50:28.300 demonstrating that Duffy blood groups on 00:50:25.090 --> 00:50:31.180 chromosome number one Roger was a fellow 00:50:28.300 --> 00:50:33.490 with me and like and the in fact he was 00:50:31.180 --> 00:50:37.870 a PhD candidate in human genetics and 00:50:33.490 --> 00:50:40.630 like all PhD students should do he 00:50:37.870 --> 00:50:42.160 studied his own a karyotype and 00:50:40.630 --> 00:50:45.220 discovered that he had an unusual 00:50:42.160 --> 00:50:49.420 chromosome number one and which was 00:50:45.220 --> 00:50:53.350 unusually long and he had both the the 00:50:49.420 --> 00:50:56.530 gumption and the wit to do a family 00:50:53.350 --> 00:50:58.330 study realizing that possibly linkage 00:50:56.530 --> 00:51:00.910 could be found between this particular 00:50:58.330 --> 00:51:03.370 chromosome and some blood group or other 00:51:00.910 --> 00:51:05.590 marker and indeed that proved to be the 00:51:03.370 --> 00:51:09.070 case Duffy blood group being linked to 00:51:05.590 --> 00:51:12.610 this particular unusual chromosome this 00:51:09.070 --> 00:51:14.950 was a coarse abnormal variation but it 00:51:12.610 --> 00:51:17.830 would be very nice if every fellow would 00:51:14.950 --> 00:51:18.670 bring some unusual finding like that 00:51:17.830 --> 00:51:22.930 along with it 00:51:18.670 --> 00:51:26.710 and he came to work with me a victor 00:51:22.930 --> 00:51:30.270 among your many books so one was a pure 00:51:26.710 --> 00:51:33.430 short textbook of medical genetics that 00:51:30.270 --> 00:51:36.010 human genetics excuse me that I said has 00:51:33.430 --> 00:51:38.800 been widely published and in other 00:51:36.010 --> 00:51:40.660 languages as well in fact I think I 00:51:38.800 --> 00:51:43.630 remember having a delicious meal in 00:51:40.660 --> 00:51:44.290 Moscow paid for by the honor area of one 00:51:43.630 --> 00:51:47.860 of these books 00:51:44.290 --> 00:51:50.470 can you tell us how that of all the this 00:51:47.860 --> 00:51:52.090 is my book on human entitled human 00:51:50.470 --> 00:51:55.720 genetics which was published by prentice 00:51:52.090 --> 00:51:59.620 hall the first edition was in 1964 and 00:51:55.720 --> 00:52:04.320 the second edition in 1969 the first 00:51:59.620 --> 00:52:07.660 edition was translated into Russian in 00:52:04.320 --> 00:52:14.650 1965 I believe of perhaps late 60 for 00:52:07.660 --> 00:52:16.800 the lysenko finally went out in 1964 and 00:52:14.650 --> 00:52:22.810 my book was sort of johnny-on-the-spot 00:52:16.800 --> 00:52:26.730 as a as a book up to date on human 00:52:22.810 --> 00:52:29.860 genetics and of manageable size the 00:52:26.730 --> 00:52:31.870 Russia did not at that time belong to 00:52:29.860 --> 00:52:40.030 the copyright agreement so it was 00:52:31.870 --> 00:52:43.300 strictly a a it was plagiarized or it 00:52:40.030 --> 00:52:47.860 was pirated it was a case of pirating 00:52:43.300 --> 00:52:50.950 but they had told me that if when the 00:52:47.860 --> 00:52:54.250 author goes to Russia they will often 00:52:50.950 --> 00:52:58.090 give him an honorarium and a reference 00:52:54.250 --> 00:53:02.620 in in return for the use of his book and 00:52:58.090 --> 00:53:06.010 so when I went there in 1969 with my 00:53:02.620 --> 00:53:09.970 whole family its dentally the my host 00:53:06.010 --> 00:53:13.740 took me he had dr. bara took me to the 00:53:09.970 --> 00:53:17.950 publishing house and I got I think at 00:53:13.740 --> 00:53:20.830 224 roubles and and the 30 kopeks or 00:53:17.950 --> 00:53:25.390 something of this sort and they asked me 00:53:20.830 --> 00:53:27.400 if I had any questions and I I are at 00:53:25.390 --> 00:53:29.060 least I asked the question as to how 00:53:27.400 --> 00:53:32.570 many copies had been published 00:53:29.060 --> 00:53:36.080 and they looked into the matter and 00:53:32.570 --> 00:53:38.330 found that 25,000 copies had been 00:53:36.080 --> 00:53:40.970 published and that there were no books 00:53:38.330 --> 00:53:43.430 in trade they had all been sold this was 00:53:40.970 --> 00:53:45.380 more than had been published in English 00:53:43.430 --> 00:53:49.690 from the English edition so there was a 00:53:45.380 --> 00:53:54.590 tremendous interest in the subject in in 00:53:49.690 --> 00:53:58.630 Russia that the money had to be used in 00:53:54.590 --> 00:54:01.370 Europe and in Russia and before we left 00:53:58.630 --> 00:54:03.530 the country I had not used it all up so 00:54:01.370 --> 00:54:06.740 I took out a bank account in Leningrad 00:54:03.530 --> 00:54:09.620 and at 3% per annum and I called myself 00:54:06.740 --> 00:54:12.860 a Soviet capitalist but when we went 00:54:09.620 --> 00:54:15.200 back in 1978 that had grown appreciably 00:54:12.860 --> 00:54:18.290 and that we took the money out again and 00:54:15.200 --> 00:54:21.200 we still had some money when we left 00:54:18.290 --> 00:54:24.740 again so I again took out a bank account 00:54:21.200 --> 00:54:27.620 which I still have your career is taking 00:54:24.740 --> 00:54:29.750 you to many interesting travels abroad 00:54:27.620 --> 00:54:31.730 but also some interesting detective work 00:54:29.750 --> 00:54:32.810 in this country could you tell us about 00:54:31.730 --> 00:54:34.910 some of the interesting experience 00:54:32.810 --> 00:54:38.150 you've had tracing down genetic diseases 00:54:34.910 --> 00:54:42.430 I think that's one of the fascinating 00:54:38.150 --> 00:54:46.460 things about about medical genetics is 00:54:42.430 --> 00:54:48.950 tracking down family lines and so on 00:54:46.460 --> 00:54:52.100 some years ago we had a great deal of 00:54:48.950 --> 00:54:56.300 fun tracing out the haemophilia in early 00:54:52.100 --> 00:54:59.360 New England between 1830 and 1817 there 00:54:56.300 --> 00:55:03.370 were four families with hemophilia 00:54:59.360 --> 00:55:05.830 described in New England and we had 00:55:03.370 --> 00:55:10.700 interesting time bringing those 00:55:05.830 --> 00:55:13.100 pedigrees up to date and and so on did 00:55:10.700 --> 00:55:14.690 you have any stories for account about 00:55:13.100 --> 00:55:17.000 your time with the Amish you certainly 00:55:14.690 --> 00:55:19.760 have been in their homes and have 00:55:17.000 --> 00:55:22.970 introduced a lot of us to hamish culture 00:55:19.760 --> 00:55:26.080 yes well I've enjoyed of course my 00:55:22.970 --> 00:55:29.750 contacts with them very much indeed I 00:55:26.080 --> 00:55:32.290 grew up on a farm so that I think my 00:55:29.750 --> 00:55:35.900 farm background that makes me 00:55:32.290 --> 00:55:40.460 sympathetic and and 00:55:35.900 --> 00:55:45.230 sensitive to their way of life and so on 00:55:40.460 --> 00:55:48.080 but lots of interesting and even some 00:55:45.230 --> 00:55:51.530 amusing experiences I remember once at 00:55:48.080 --> 00:55:54.830 when Anna and I were staying with an 00:55:51.530 --> 00:55:58.970 Amish family in Pennsylvania that we had 00:55:54.830 --> 00:56:01.460 first arrived at their home and we were 00:55:58.970 --> 00:56:05.150 ushered into the living room 00:56:01.460 --> 00:56:09.380 by the white bearded patriarch of the 00:56:05.150 --> 00:56:12.110 family and by his wife and and I started 00:56:09.380 --> 00:56:14.480 to sit down and they were rocking chair 00:56:12.110 --> 00:56:17.990 and she hesitated for a moment and said 00:56:14.480 --> 00:56:20.300 to say I'm dead while the patriarch oh 00:56:17.990 --> 00:56:24.140 is this your chair and he said they're 00:56:20.300 --> 00:56:27.290 all my chairs Victor I know that as one 00:56:24.140 --> 00:56:30.110 of your former students and that we've 00:56:27.290 --> 00:56:32.000 had several gatherings of the clan now 00:56:30.110 --> 00:56:33.980 with three and perhaps the fourth 00:56:32.000 --> 00:56:36.260 generation of the McKusick scientific 00:56:33.980 --> 00:56:38.360 pedigree on behalf of all of them I'd 00:56:36.260 --> 00:56:40.460 like to thank you for your teachings and 00:56:38.360 --> 00:56:43.570 your many contributions to the field of 00:56:40.460 --> 00:56:43.570 genetics thank you 00:57:02.370 --> 00:57:04.430 you