Letter from Victor A. McKusick to Seldon E. Bernstein
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1974-06-11 (June 11, 1974)
McKusick, Victor A.
Bernstein, Seldon E.
Roscoe B. Jackson Memorial Laboratory
Original Repository: Alan Mason Chesney Medical Archives. Victor Almon McKusick Collection
Medical Subject Headings (MeSH):
The Bar Harbor Course and "McKusick's Catalog," 1960-1980
11th June, 1974
I will comment specifically on the points and suggestions made in your review of the provisional program for the Bar Harbor
course. Your note of transmittal was dated May 17. I am sorry I have not gotten to respond to it sooner.
1. Your suggest Hamerton as coordinator for the entire session on cytogenetics. I think there are some problems inherent
in having someone who has not previously been at the course (such as Kazazian also) being the group organizer. There are,
I recognize, also advantages. Borgaonkar, Gerald, Hamerton, Ruddle and I will all be in Holland at a chromosome mapping conference
in July. We can put some finishing touches on the organization of the program at that time.
2. You suggest that Eicher would like to discuss "mapping of genes without recombination." I presume that this means
cell hybridization approaches as well as in situ hybridization techniques such as that of Gall. It was my thought that mapping
the human genome should be postponed until the second week. I believe there is enough for one day, namely Tuesday a.m. and
p.m. plus the previous evening in more conventional cytogenetics including clinical cytogenetics (see attached list). As
for as Eicher taking that topic I would only point out that Ruddle is a leader in this field.
3. Yes, I think Boyer is prepared to give the discussion of primary gene action, translation etc. which is needed for the
kick-off of Wednesday's session. As I had indicating by the comment in brackets I thought a lot of this could be presented
within the framework of human hemoglobins. It is said that one could teach a whole course of human genetics using only the
4. I think there are problems with having Kazazian organize a session when he has not been to the course previously. Furthermore,
I was much disappointed this past year by Kazazian's contribution to our medical student course. I think for various
reasons we may have to leave the organization of this session in the hands of Boyer.
5. Yes, we had Scriver in mind as group leader for all the sessions on inborn errors of metabolism.
6. It will be nice to include Coleman on diabetes and obesity. We have another contribution for the inborn errors of metabolism
section, namely porphyria discussed by Robin Bannerman. Robin Bannerman will be there during the two weeks of the course.
He does not expect remuneration.
7. No comment.
8. Poljak and Dick Humphrey jointly have been organizing the program for Friday morning and evening. Humphrey took the course
in the past and is a good man. They are bringing Bernice Schacter with them. Bernice is a very competent young lady although
she is relatively new to this field. They suggested that a brief summary lecture on blood groups be left in, stating certain
genetic principles. They point out, rightly I believe, that there are some genetic principles or at least genetically controlled
mechanisms which are illustrated only by the blood groups, e.g., the role of an enzyme in altering immune specificity though
the addition of a side chain or side group. Autoimmunity will be worked in to some extent. There is new evidence on the
relationship between HL-A type and susceptibility to certain diseases which have been construed as autoimmune in nature.
9. I think it is possible that we have not allowed sufficient time for immunogenetics. The folks here (Schacter, Poljak
and Humphrey) have a rather jam-packed program already planned for that Friday. I am not certain where Kaliss would be fitted
in. I am sure it would be very useful to hear from him. Perhaps Kaliss could be introduced during the second week.
10. No comment.
11. I think you are right. "Mapping the human genome" can probably be adequately covered in simply the morning of
Monday, even though the field is progressing with amazing rapidity. I will undertake to be the organizer for this and will
attempt to keep everyone in line. I am going to a conference in Holland on mapping and can get some ideas about how to organize
it there. I think it will be useful to have material on the mouse mapping for at least two reasons. One is as a contrast
in methodology and Margaret Green can certainly give that and, secondly, from the point of view of the comparative map of
the X chromosome because of the evolutionary conservatism of the X chromosome. The map in the mouse is of considerable interest.
12. I would be agreeable to putting Tibby Russell on for "genetic aspects of aging" on Monday evening of the second
week. Would she take the full 2 hour session? Should we put anything else on at that time? For example, would Harrison
like to talk on aging at that time and use Tuesday morning for developmental genetics? See my comment about Murphy and longevity
in man (below).
13. I suspect we don't need to worry about a transition between aging and development. Probably Tibby will provide that
for us on Monday evening. She should plan to do that.
14. In connection with the Mouse Clinic I think it would be very useful if you could let me know what mutant mice Margaret
Green et all would plan to present. What I would like to do is to have some medical members of the faculty and perhaps of
the student body prepared to discuss the medical condition in comparison with the condition in the mouse. Eva Eicher's
hypophosphatemic rickets would certainly be of great interest. I believe that you have a sideroblastic anemia in the mouse
(perhaps more than one) which would be of great interest also because sideroblastic anemias in man are being increasingly
recognized. Robin Bannerman has expressed a willingness to help with the Mouse Clinic. As you know he has recently written
a long review on animal models of hemotologic disorders in man.
15. I think we could plan to organize the morning on lysosomal diseases as follows:
Background 8.30 - 9.15 George Thomas
Sphingolipidoses 9.15 - 10.15 Dr. Schneider
Coffee 10.15 - 10.45
Mucopolysaccharidoses 10.45 - 11.30 Dr. McKusick
Mucolipidoses 11.30 - 12.15 Dr. Kelly
17. I believe that a very good morning's program could be worked up for Thursday of the second week from miscellaneous
short papers by staff and by students. You mention in your notes a number of short contributions from the Bar Harbor group
which may be difficult to fit in anywhere else.
The topics you suggest for that Thursday morning are per se good ones, but I am not certain we have anyone on board who is
particularly expert in those areas.
I would be perfectly willing to leave the organization of that Thursday morning until the first week of the course, at least
the final decision on it. I suppose we should inform the "students" that they should bring material including slides
for possible presentation, and possible participants at Bar Harbor would like to know that they might be presenting.
Incidentally, I am rather taken, I must say, with the organization which runs through Friday evening and feel that we should
do that and not worry about fall-off in attendance.
18. I suspect that Boyer would not plan to cover geographic and racial distribution of inherited diseases. The ethnic distribution
of disease has been a special hobby-horse of mine and I will bring some slides along on this which might be shown in relation
to Boyer's talk.
Comments on your general comments: I think it is defensible to put the talk on the genetics of sex abnormalities in the second
week. It is much more of a development genetics topic in its present development than cytogenetics pure and simple. There
is fascinating work, as you know, coming out of a study of testicular feminization both in the mouse and in man and there
is additional very interesting work on medelian sex abnormalities in man. Mapping the human genome should, I feel, come in
the second week because of the need of a bit of statistical background for the family study aspects thereof.
I think that it would be perfectly superb if you would talk on phenocopies, mimicry and gene environment interactions in phenotype.
You know, it occurs to me in looking over the program that we might move the Mouse Clinic to Thursday morning. This will
decongest Tuesday morning, leaving the possibility of adding some other persons such as Bernstein and Stevens. On Thursday
morning we could make the Mouse Clinic a paired -up operation between a "mousologist" and an M.D. discussing diseases
from a comparative point of view and pointing up by implication the usefulness of mouse models.
I think the best time for you to talk on phenocopies etc. would be on the morning of Tuesday of the second week, in the section
on developmental genetics.
I would like to feel free to call on either students or faculty to discuss the Mouse Models from the medical point of view.
I think we could work up a very good program.
I have heard from Scrivner and he is willing to organize the inborn errors of metabolism session. He is also willing to talk
both on treatment and on screening on the final Friday. He would propose to confine his screening discussion to screening
for heterozygotes and the usefulness of using more than one test to improve the signal-to-noise ratio.
For the Monday evening program of the second week (genetic aspects of aging) it would be worthwhile, I believe, to have Tony
Murphy present results from a study which we have been doing here in Baltimore on the genetics of longevity in man. This
is a follow-up study which was initiated by Raymond Pearl in the 1920's and has considerable interest.
I would appreciate it greatly if you and I could have an arrangement whereby you were always present for the beginning of
the morning session at 8.30 a.m. and the beginning of the evening session at 7.30 p.m. so that if I have trouble getting from
our cottage on Echo Lake the show would still get on the road. With family responsibilities and transportation problems I
suspect it may be important to have this sort of back up.
I think we should ask people to give us an outline of their lectures by July 10th.
Attached is a xerox copy of a list of topics which Borgaonkar has suggested should be covered in the section on cytogenetics,
Monday evening and all day Tuesday of the first week.
I would like to hear from you and other Jax folks soon about the topics for the Mouse Clinic. I am enthusiastic about the
idea of devoting the whole of the second Thursday morning to this and to having discussions in fair depth between a Jax person
and an MD
Things seem to be coming along very well. Let me know your reactions to the thoughts I have expressed here. I would like
to make up another somewhat mature program no later than Monday, June 24.