Huntington's disease (HD), also known as Huntington's chorea, is an inherited disorder that results in the death of brain cells. The earliest symptoms are often subtle problems with mood or mental abilities. A general lack of coordination and an unsteady gait often follow. As the disease advances, uncoordinated, jerky body movements become more apparent. Physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk. Mental abilities generally decline into dementia. The specific symptoms vary somewhat between people. Symptoms usually begin between 30 and 50 years of age but can start at any age. The disease may develop earlier in life in each successive generation. About eight percent of cases start before the age of 20 years, and are known as juvenile HD, they typically present with symptoms more like Parkinson's disease. People with HD often underestimate the degree of their problems.
Michael Smith was a British-born Canadian biochemist and businessman. He shared the 1993 Nobel Prize in Chemistry with Kary Mullis for his work in developing site-directed mutagenesis. Following a PhD in 1956 from the University of Manchester, he undertook postdoctoral research with Har Gobind Khorana at the British Columbia Research Council in Vancouver, British Columbia, Canada. Subsequently, Smith worked at the Fisheries Research Board of Canada Laboratory in Vancouver before being appointed a professor of biochemistry in the UBC Faculty of Medicine in 1966. Smith's career included roles as the founding director of the UBC Biotechnology Laboratory and the founding scientific leader of the Protein Engineering Network of Centres of Excellence (PENCE). In 1996 he was named Peter Wall Distinguished Professor of Biotechnology. Subsequently he became the founding director of the Genome Sequencing Centre at the BC Cancer Research Centre.
Marco A. Marra is a Canadian scientist who is Director and Distinguished Scientist, Genome Sciences Centre, BC Cancer Agency; Professor and Head, Department of Medical Genetics, University of British Columbia, and UBC Canada Research Chair in Genome Science.
The Oklahoma Medical Research Foundation (OMRF), located in Oklahoma City, Oklahoma, is an independent, nonprofit biomedical research institute. Established in 1946, OMRF is dedicated to understanding and developing more effective treatments for human disease. Stephen M. Prescott serves as president of OMRF, which employs more than 500 scientific and administrative staff members.
A transgene is a gene that has been transferred naturally, or by any of a number of genetic engineering techniques from one organism to another. The introduction of a transgene, in a process known as transgenesis, has the potential to change the phenotype of an organism. Transgene describes a segment of DNA containing a gene sequence that has been isolated from one organism and is introduced into a different organism. This non-native segment of DNA may either retain the ability to produce RNA or protein in the transgenic organism or alter the normal function of the transgenic organism's genetic code. In general, the DNA is incorporated into the organism's germ line. For example, in higher vertebrates this can be accomplished by injecting the foreign DNA into the nucleus of a fertilized ovum. This technique is routinely used to introduce human disease genes or other genes of interest into strains of laboratory mice to study the function or pathology involved with that particular gene.
Vancouver General Hospital is a medical facility located in Vancouver, British Columbia. It is the largest facility in the Vancouver Hospital and Health Sciences Centre (VHHSC) group of medical facilities. VGH is Canada's second largest hospital, after The Ottawa Hospital.
The Kolling Institute of Medical Research is located on the grounds of the Royal North Shore Hospital in St Leonards, Sydney Australia. The institute, founded in 1920, is the oldest medical research institute in New South Wales.
The National Core for Neuroethics at the University of British Columbia was established in August 2007, with support from the Canadian Institutes of Health Research, the Institute of Mental Health and Addiction, the Canada Foundation for Innovation, the British Columbia Knowledge Development Fund, the Canada Research Chairs program, the UBC Brain Research Centre and the UBC Institute of Mental Health. Co-founded by Judy Illes and Peter Reiner, the Core studies neuroethics, with particular focus on ethics in neurodegenerative disease and regenerative medicine, international and cross-cultural challenges in brain research, neuroimaging and ethics, the neuroethics of enhancement, and personalized medicine.
Christopher Carl Goodnow is an immunology researcher and the current Executive Director of the Garvan Institute of Medical Research. He holds the Bill and Patricia Ritchie Foundation Chair and is a Conjoint Professor in the Faculty of Medicine at UNSW Sydney. He holds dual Australian and US citizenship.
Nancy Wexler 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 involvement in the discovery of the location of the gene that causes Huntington's disease. She earned a Ph.D. in clinical psychology but instead chose to work in the field of genetics.
Loren H. Rieseberg is a Canadian-American botanist.
Michael R. Hayden, is a Killam Professor of Medical Genetics at the University of British Columbia and Canada Research Chair in Human Genetics and Molecular Medicine. Hayden is best known for his research in Huntington disease (HD).
Jeffrey Bryan Carroll is a scientific researcher in the field of Huntington's disease (HD). As a carrier of the abnormal gene that causes HD, he is also a public advocate for families affected by the disease, and co-founder of the HD research news platform HDBuzz. His life and work were the subject of a 2011 Gemini award-nominated CBC documentary feature. Carroll is an Associate Professor of neuroscience in the Department of Psychology at Western Washington University.
The UBC Faculty of Medicine is the medical school of the University of British Columbia. It is one of 17 medical schools in Canada and the only one in the province of British Columbia. It has Canada's second-largest undergraduate medical education program and the fifth-largest in the U.S. and Canada. It is ranked as the 2nd best medical program in Canada by Maclean's, and 27th in the world by the 2017 QS World University Rankings.
Do You Really Want To Know? is a 2012 documentary film directed by John Zaritsky and produced by Kevin Eastwood. Using interviews and dramatic recreations, the film recounts the stories of three families who carry the gene for Huntington's disease, a neurodegenerative illness which is the result of a genetic abnormality, whose symptoms typically appear in mid-life. Members of each featured family have undergone predictive testing to learn whether or not they have inherited the gene that causes the disease, and they each describe the impact that testing has had upon their lives. "Do You Really Want To Know?" had its world premiere in Canada at the 2012 DOXA Documentary Film Festival and its broadcast premiere on November 13, 2012 on Knowledge Network.
P. Michael Conneally, Ph.D., was the Distinguished Professor Emeritus at the Indiana University School of Medicine in the Department of Medical and Molecular Genetics. He was certified in medical genetics by the American Board of Medical Genetics and a founding fellow of the American College of Medical Genetics. He was a human geneticist interested in discovering the location of human genes that cause disease, specifically the mapping of Mendelian and complex inherited diseases including the study of Huntington's disease, genetics of alcoholism, diabetes and manic depressive illness. In collaboration with researchers from Columbia University and James F. Gusella of Harvard University, he was the first to use DNA techniques to map a human gene. In the past twenty years he has helped map approximately 20 human genes and his work has resulted in the identification of 20% of the human genome. Conneally received his bachelor's degree in Agriculture with Honors from University College Dublin in 1954 and Master’s and Ph.D. from the University of Wisconsin, Madison.
Jamey Marth, Ph.D., is a molecular and cellular biologist. He is currently on the faculty of the SBP Medical Discovery Institute of La Jolla and the University of California, Santa Barbara. Dr. Marth is Director of the Center for Nanomedicine and an adjunct Professor in the Department of Molecular, Cellular and Developmental Biology. He is also the inaugural recipient of the Carbon Chair of Biochemistry and Molecular Biology and the recipient of the Mellichamp Chair of Systems Biology.
Wendy K. Chung is an American clinical and molecular geneticist and physician. She currently directs the clinical genetics program at NewYork–Presbyterian Hospital / Columbia University Medical Center in New York City and serves as the Kennedy Family Professor of Pediatrics. She is the author of 300 peer-reviewed articles and 50 chapters and has won several awards as a physician, researcher, and professor. Chung helped to initiate a new form of newborn screening for spinal muscular atrophy which is used nationally, and was the plaintiff in the supreme court case which prevents patenting of genes.
Nihar Ranjan Jana is an Indian neuroscientist and a professor at the National Brain Research Centre. Known for his studies on E3 ubiquitin ligases, Jana is an elected fellow of the National Academy of Sciences, India. The Department of Biotechnology of the Government of India awarded him the National Bioscience Award for Career Development, one of the highest Indian science awards, for his contributions to biosciences in 2008.
Carolyn J. Brown is a Canadian geneticist and Professor in the Department of Medical Genetics at the University of British Columbia. Brown is known for her studies on X-chromosome inactivation, having discovered the human XIST gene in 1990.
