James Francis Gusella (born 1952 in

Ottawa Ottawa (, ; Canadian French: ) is the capital city of Canada. It is located at the confluence of the Ottawa River and the Rideau River in the southern portion of the province of Ontario. Ottawa borders Gatineau, Quebec, and forms the core ...

) is a Canadian molecular biologist and geneticist known for his work on

Huntington's disease Huntington's disease (HD), also known as Huntington's chorea, is a neurodegenerative disease that is mostly inherited. The earliest symptoms are often subtle problems with mood or mental abilities. A general lack of coordination and an unst ...

and other

neurodegenerative disease A neurodegenerative disease is caused by the progressive loss of structure or function of neurons, in the process known as neurodegeneration. Such neuronal damage may ultimately involve cell death. Neurodegenerative diseases include amyotrophic ...

s in humans. He is the Bullard Professor of Neurogenetics in the Department of Genetics at

Harvard Medical School Harvard Medical School (HMS) is the graduate medical school of Harvard University and is located in the Longwood Medical Area of Boston, Massachusetts. Founded in 1782, HMS is one of the oldest medical schools in the United States and is consi ...

and an investigator at the Center for Genomic Medicine at the Mass General Research Institute.

Early life and education

Gusella was born in Ottawa, Canada. He received his Bachelor of Science degree in biology from the

University of Ottawa The University of Ottawa (french: Université d'Ottawa), often referred to as uOttawa or U of O, is a bilingual public research university in Ottawa, Ontario, Canada. The main campus is located on directly to the northeast of Downtown Ottawa ...

in 1974, and his Ph.D. in biology from the

Massachusetts Institute of Technology The Massachusetts Institute of Technology (MIT) is a private land-grant research university in Cambridge, Massachusetts. Established in 1861, MIT has played a key role in the development of modern technology and science, and is one of the ...

in 1980. As a doctoral student of David Housman, Gusella developed

linkage analysis Genetic linkage is the tendency of DNA sequences that are close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Two genetic markers that are physically near to each other are unlikely to be separ ...

techniques using restriction fragment length polymorphisms (RFLPs) to identify human disease genes.

Career

Gusella joined the faculty of

in 1980, where began collaborating with

Nancy Wexler Nancy Wexler (born 19 July 1945) FRCP is an American geneticist and the Higgins Professor of Neuropsychology in the Departments of Neurology and Psychiatry of the Columbia University College of Physicians and Surgeons, best known for her involve ...

to study the genetic basis of

. 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. 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 Huntingtin (Htt) is the protein coded for in humans by the ''HTT'' gene, also known as the ''IT15'' ("interesting transcript 15") gene. Mutated ''HTT'' is the cause of Huntington's disease (HD), and has been investigated for this role and also for ...

gene in 1993 and established the CAG trinucleotide repeat expansion as the underlying genetic etiology of Huntington's disease. Gusella's lab employed similar strategies to identify genes responsible for

neurofibromatosis type 2 Neurofibromatosis type II (also known as MISME syndrome – multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition that may be inherited or may arise spontaneously, and causes benign tumors of the brain, spinal cord, ...

and a familial form of

Alzheimer's disease Alzheimer's disease (AD) is a neurodegeneration, neurodegenerative disease that usually starts slowly and progressively worsens. It is the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in short-term me ...

. In 1999, along with

Cynthia Morton Cynthia Casson Morton (born August 1, 1955) is an American geneticist, professor at Harvard Medical School, and director of cytogenetics at Brigham and Women's Hospital. Biography Morton graduated in 1973 from Maryland's Easton High School and in ...

, he co-founded the Developmental Genome Anatomy Project (DGAP), harnessing de novo balanced chromosomal rearrangements to identify genes associated with

autism The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulti ...

and other

neurodevelopmental disorders Neurodevelopmental disorders are a group of disorders that affect the development of the nervous system, leading to abnormal brain function which may affect emotion, learning ability, self-control, and memory. The effects of neurodevelopmental ...

. Gusella was a founding director of the Center for Human Genetic Research (now known as the Center for Genomic Medicine) at

Massachusetts General Hospital Massachusetts General Hospital (Mass General or MGH) is the original and largest teaching hospital of Harvard Medical School located in the West End neighborhood of Boston, Massachusetts. It is the third oldest general hospital in the United Stat ...

in 2003. Gusella and David Housman were among the founders of Integrated Genetics (now part of

Genzyme Genzyme was an American biotechnology company based in Cambridge, Massachusetts. Since its acquisition in 2011, Genzyme (also known as Genzyme Transgenics Corp or GTC Biotherapeutics) has been a fully owned subsidiary of Sanofi. In 2010, Genzyme ...

), who introduced the first diagnostic test for Huntington's disease in 1986.

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 A neurodegenerative disease is caused by the progressive loss of structure or function of neurons, in the process known as neurodegeneration. Such neuronal damage may ultimately involve cell death. Neurodegenerative diseases include amyotrophic ...

. He has also received the

Metlife Foundation Award The Metlife Foundation Award for Medical Research in Alzheimer's Disease were awarded annually from 1986 to 2016 to recognize scientific contributions toward a better understanding of the underlying causes, prevention, and treatments of Alzheimer's ...

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 A neuron, neurone, or nerve cell is an membrane potential#Cell excitability, electrically excitable cell (biology), cell that communicates with other cells via specialized connections called synapses. The neuron is the main component of nervous ...

(2004). He was elected as a fellow of the American Academy of Arts and Sciences in 2007, and he received the

William Allan Award The William Allan Award, given by the American Society of Human Genetics, was established in 1961 in memory of William Allan (1881–1943), one of the first American physicians to conduct extensive research in human genetics. The William Allan ...

of the

American Society of Human Genetics The American Society of Human Genetics (ASHG), founded in 1948, is a professional membership organization for specialists in human genetics. As of 2009, the organization had approximately 8,000 members. The Society's members include researchers, a ...

in 2016.

References

External links

James F. Gusella
at

1952 births 20th-century Canadian biologists Alzheimer's disease researchers Biography articles needing translation from German Wikipedia Canadian molecular biologists Canadian geneticists Living people Searle Scholars Program recipients Massachusetts Institute of Technology alumni University of Ottawa alumni University of Toronto alumni {{Canada-scientist-stub