James F. Gusella Explained

James F. Gusella
Birth Place:Ottawa, Ontario
Citizenship:Canada
Field:genetics, neurology
Known For:Contributing to identification of the gene that causes Huntington's disease
Doctoral Advisor:David Housman
Thesis Title:Selection and localization of cloned DNA sequences from human chromosome 11
Thesis Year:1980
Thesis Url:https://worldcat.org/en/title/7705106
Doctoral Students:Rudolph E. Tanzi

James Francis Gusella (born 1952 in Ottawa) is a Canadian molecular biologist and geneticist known for his work on Huntington's disease and other neurodegenerative diseases in humans. He is the Bullard Professor of Neurogenetics in the Department of Genetics at Harvard Medical School and an investigator at the Center for Genomic Medicine at the Mass General Research Institute.[1]

Early life and education

Gusella was born in Ottawa, Canada. He received his Bachelor of Science degree in biology from the University of Ottawa in 1974, and his Ph.D. in biology from the Massachusetts Institute of Technology in 1980.[2] As a doctoral student of David Housman, Gusella developed linkage analysis techniques using restriction fragment length polymorphisms (RFLPs) to identify human disease genes.[3]

Career

Gusella joined the faculty of Harvard Medical School in 1980, where began collaborating with Nancy Wexler to study the genetic basis of Huntington's disease. Through linkage analysis of a large Venezuelan population of Huntington's disease kindreds, they mapped the location of the causal gene to the short arm of chromosome 4 in 1983.[4] This achievement marked the first time that a human disease gene had been localized to a specific chromosome using anonymous DNA markers.

Building on this success, the team cloned the huntingtin gene in 1993 and established the CAG trinucleotide repeat expansion as the underlying genetic etiology of Huntington's disease.[5] Gusella's lab employed similar strategies to identify genes responsible for neurofibromatosis type 2[6] and a familial form of Alzheimer's disease.[7]

In 1999, along with Cynthia Morton, he co-founded the Developmental Genome Anatomy Project (DGAP),[8] harnessing de novo balanced chromosomal rearrangements to identify genes associated with autism and other neurodevelopmental disorders.

Gusella was a founding director of the Center for Human Genetic Research (now known as the Center for Genomic Medicine) at Massachusetts General Hospital in 2003.[9]

Gusella and David Housman were among the founders of Integrated Genetics (now part of Genzyme), who introduced the first diagnostic test for Huntington's disease in 1986.[10]

Awards and honors

In 1997, Gusella was awarded the King Faisal Prize in Medicine together with Konrad Beyreuther and Colin L. Masters for contributions to the understanding of neurodegenerative diseases.[11] He has also received the Metlife Foundation Award for Medical Research in Alzheimer's Disease (1987), the Taylor Prize (1994), the Charles A. Dana Award for Pioneering Achievement in Health and Education (1998), the Neuronal Plasticity Prize (2004).

He was elected as a fellow of the American Academy of Arts and Sciences in 2007,[12] [13] and he received the William Allan Award of the American Society of Human Genetics in 2016.

External links

Notes and References

  1. Web site: James F. Gusella, PhD. Massachusetts General Hospital. 2024-04-17. 2024-04-17. https://web.archive.org/web/20240417150821/https://researchers.mgh.harvard.edu/profile/1785487/James-Gusella.
  2. Web site: Meet Marcy & Jim. Huntington's Disease Society of America. 2024-04-17.
  3. Selection and localization of cloned DNA sequences from human chromosome 11. Gusella, James F. 1980. en.
  4. Gusella. James F.. Wexler. Nancy S.. Conneally. P. Michael. Naylor. Susan L.. Anderson. Mary Anne. Tanzi. Rudolph E.. Watkins. Paul C.. Ottina. Kathleen. Wallace. Margaret R.. Sakaguchi. Alan Y.. Young. Anne B.. Shoulson. Ira. Bonilla. Ernesto. Martin. Joseph B.. A Polymorphic DNA Marker Genetically Linked to Huntington's Disease. Nature. 306. 5940. 234–238. November 17, 1983. 10.1038/306234a0. 6316146. 2024-04-17.
  5. MacDonald . Marcy E . Ambrose . Christine M . Duyao . Mabel P . Myers . Richard H . Lin . Carol . Srinidhi . Lakshmi . Barnes . Glenn . Taylor . Sherryl A . James . Marianne . Groot . Nicolet . MacFarlane . Heather . Jenkins . Barbara . Anderson . Mary Anne . Wexler . Nancy S . Gusella . James F . Bates . Gillian P . Baxendale . Sarah . Hummerich . Holger . Kirby . Susan . North . Mike . Youngman . Sandra . Mott . Richard . Zehetner . Gunther . Sedlacek . Zdenek . Poustka . Annemarie . Frischauf . Anna-Maria . Lehrach . Hans . Buckler . Alan J . Church . Deanna . Doucette-Stamm . Lynn . O'Donovan . Michael C . Riba-Ramirez . Laura . Shah . Manish . Stanton . Vincent P . Strobel . Scott A . Draths . Karen M . Wales . Jennifer L . Dervan . Peter . Housman . David E . Altherr . Michael . Shiang . Rita . Thompson . Leslie . Fielder . Thomas . Wasmuth . John J . Tagle . Danilo . Valdes . John . Elmer . Lawrence . Allard . Marc . Castilla . Lucio . Swaroop . Manju . Blanchard . Kris . Collins . Francis S . Snell . Russell . Holloway . Tracey . Gillespie . Kathleen . Datson . Nicole . Shaw . Duncan . Harper . Peter S . A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes . Cell . 72 . 6 . 971–983 . 1993-03-26 . 10.1016/0092-8674(93)90585-e . 3 . 8458085 . 2027.42/30901 . free .
  6. Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22 . Rouleau, G. A. . Wertelecki, W. . Haines, J. L. . Hobbs, W. J. . Trofatter, J. A. . Seizinger, B. R. . Martuza, R. L. . Superneau, D. W. . Conneally, P. M. . Gusella, J. F. . Nature . 329 . 6136 . 246–248 . 1987 . en . 10.1038/329246a0 . 3 .
  7. Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Tanzi, R. E.. Gusella, J. F.. Watkins, P. C.. Bruns, G. A.. St George-Hyslop, P.. Van Keuren, M. L.. Patterson, D.. Pagan, S.. Kurnit, D. M.. Neve, R. L.. 3. Science. 235. 4791. 880–884. 1987-02-20. en. 10.1126/science.2949367.
  8. Higgins . Anne W . etal . Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project . Am. J. Hum. Genet. . The American Society of Human Genetics . 82 . 3 . 712-722 . 2008-03-03 . 18319076 . 10.1016/j.ajhg.2007.12.011. 2427204 .
  9. 10.1016/j.ajhg.2017.01.016. Nelson. David L.. 2016 William Allan Award Introduction: James Gusella. American Journal of Human Genetics. 100. 3. 385-386. 2017-03-02. 2024-04-17. 28257684. 5339081.
  10. Book: Reaping the Benefits of Genomic and Proteomic Research: Intellectual Property Rights, Innovation, and Public Health. Genomics, Proteomics, and the Changing Research Environment. National Center for Biotechnology Information. 2024-04-17.
  11. Web site: Professor James F. Gusella . King Faisal Prize . 10 October 2012 . 13 August 2018. 2020-03-29. https://web.archive.org/web/20200329064030/https://kingfaisalprize.org/professor-james-f-gusella/. dead.
  12. Web site: The Harvard Gazette. AAAS selects 15 Harvard faculty members as fellows. 2007-11-15. 2024-04-17. 2024-04-17. https://web.archive.org/web/20240417154943/https://news.harvard.edu/gazette/story/2007/11/aaas-selects-15-harvard-faculty-members-as-fellows/.
  13. Web site: Elected Fellows. American Association for the Advancement of Science. 2024-04-17.

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