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• W2791799897 abstract "Arthur L. BeaudetIt is a great honor to receive the AllanAward today,and Iwant to thank Jim Lupski for his extremely kind remarks. Iam sure that receiving this award will always be one of thehighlights of my academic career.I started doing human and mammalian genetic researchat the NIH as a summer student in 1966. I returned to theNIH full time as a research associate in 1969, and bothtimes, I worked in the laboratory of Tom Caskey in thelarger overall unit headed by Marshall Nirenberg. Marshallwas described in a recent edition of Scentific American as‘‘The Forgotten Code Cracker.’’ This was an extraordinaryera for the NIH with the military draft for the VietnamWar funneling highly competitive graduates from U.S.medical schools into the NIH as a way of fulfilling militaryobligations, while at the same time receiving researchtraining in an outstanding environment. Formalized NIHsupported M.D./Ph.D. programs did not exist yet, or I amsure that I would have enrolled in one of them. In onesmall laboratory in the NIH in my first full year, GregMilman, Joe Goldstein, and Ed Scolnick were present inaddition to Tom Caskey. This was an extraordinarily stim-ulating environment for someone who had minimalprevious exposure to research. All of these individualshad enormous impact on me and served as absolutelyoutstanding role models.In 1971, I moved to Baylor College of Medicine in Hous-ton with Tom Caskey and a year later initiated my ownresearch program, and I have never been on the facultyanywhere else. As you can probably tell from Jim’sintroduction, the first 16 years of my research career wererelatively lacking in focus. While I was jumping from lyso-somalstoragediseasetoureacycledisordersandnumerousother genetic disorders, Mike Brown and Joe Goldstein,my former benchmate, had won a Nobel Prize seeminglybefore my research career had gained any traction. Hope-fully, I would be a late bloomer.It was not until 1988, when we came to understand apatient with cystic fibrosis and uniparental disomy, thatsome semblance of focus on genomic imprinting and epi-genetics took root. Soon thereafter, Allan Bradley arrivedat Baylor College of Medicine, bringing with him the em-bryonic stem (ES) cell technology and homologous recom-bination that have just this month led to a Nobel Prize forOliver Smithies, Martin Evans, and Mario Capecchi. AllanBradleyandtheEScelltechnologyhadanenormoustrans-forming effect on genetics at Baylor College of Medicine.This further consolidated my focus on the use of mousemodels to study the role of genomic imprinting and epige-netics in human disease.I am sure that allof you knowthe general story ofunipa-rental disomy (UPD) now, but we first described the phe-nomenon in a teenage girl with cystic fibrosis and shortstature at the plenary session of this meeting in 1987. EdSpence, who is here at the meeting, was a clinical fellowand did most of the lab work. This was the first descriptionof a documented case of uniparental disomy in a human,but Eric Engel had suggested the potential for this phe-nomenon seven years earlier in 1980 in an article entitled‘‘A new genetic concept: Uniparental disomy and its po-tentialeffect,isodisomy.’’" @default.
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• W2791799897 date "2008-01-01" @default.
• W2791799897 modified "2023-09-27" @default.
• W2791799897 title "2007 ASHG AWARDS AND ADDRESSES Allan Award Lecture: Rare Patients Leading to Epigenetics and Back to Genetics" @default.
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