Jeff Carroll | |
---|---|
Born | Jeffrey Bryan Carroll August 28, 1977 |
Occupation | Scientific researcher |
Known for | Huntington's disease research and advocacy |
Jeffrey Bryan Carroll is an American scientific researcher in the field of Huntington's disease (HD). [1] As a carrier of the abnormal gene that causes HD, [2] he is also a public advocate for families affected by the disease, and co-founder of the HD research news platform HDBuzz. [3] His life and work were the subject of a 2011 Gemini award-nominated [4] [5] CBC documentary feature. [6] Carroll is an associate professor of neuroscience in the Department of Biology at the University of Washington
Born in Seattle on August 18, 1977, to parents Cindy and Jim, Carroll is one of six siblings. [2] [6] He joined the US Army in 1998, serving in Kosovo. [2] [6] While serving in the army, Carroll's mother was diagnosed as suffering from Huntington's disease (HD), a fatal, incurable, genetically inherited neurodegenerative illness. [2] [6] Learning that he and his siblings were each at 50% risk of having inherited the genetic abnormality that causes HD, and having no scientific background, Carroll enrolled in an Army-sponsored basic biology course, initiating a career as a neuroscientist. [2] [6]
Carroll underwent genetic testing for Huntington's disease in 2003 and received a positive result, indicating that he will succumb to the disease at some time, unless effective treatments are found. [2] [6]
On leaving the US Army in 2001, Carroll joined an undergraduate biology program at the University of British Columbia, Vancouver, followed by a doctoral program in UBC's Centre for Molecular Medicine and Therapeutics in the laboratory of Dr Michael Hayden. [2] [6] Carroll gained a PhD in 2010 for his research into Huntington's disease, including work on the YAC128 HD mouse model, [7] [8] [9] [10] [11] [12] the role of caspase 6 in HD, [13] genetic variation in the human HD gene [14] and the potential of allele-specific gene silencing using antisense oligonucleotides as a treatment for the condition. [15]
As a postdoctoral researcher, Carroll worked in the laboratory of Dr Marcy MacDonald at Harvard University [16] on metabolic abnormalities in Huntington's disease before moving to Western Washington University in 2011 where he is a visiting professor in the Department of Psychology and continues to conduct research into Huntington's disease. [1] In 2022, he moved as associate professor at the Department of Neurology in the University of Washington. [17]
Accurately communicating research to the affected community is a moral obligation of the scientific community ... a work of science isn't complete until this has been done.
— Jeff Carroll, Trends in Molecular Medicine, 2011 [16]
As a carrier of the gene that inevitably causes the fatal condition that forms the subject of his scientific research, Carroll is a frequent speaker at scientific and patient conferences and congresses, on issues relating to living at risk of HD, the mutual interdependence of science and patient communities, preimplantation genetic diagnosis and the controversial issue of predictive genetic testing for HD. He delivered keynote addresses at the 2009 World Congress on Huntington's Disease in Vancouver [18] and the 2010 Annual Convention of the Huntington's Disease Society of America. [2]
Carroll is also a prominent scientific educator and an advocate for accessible education of the public by scientists. In an editorial in the scientific journal Trends in Molecular Medicine, he argued that "accurately communicating research to the affected community is a moral obligation of the scientific community ... a work of science isn't complete until this has been done." [16] Alongside clinical researcher Dr Ed Wild and Emmy award-winning journalist and HD patient advocate Charles Sabine, Carroll has delivered plain-language digests of research news for patients and family members at major scientific conferences, including the 2009 [19] and 2011 [20] World Congresses on Huntington's Disease in Vancouver and Prague, and the 2010 European Huntington's Disease Network Annual Congress. [21]
In 2010, Carroll's life, work and family were the subject of an episode of the CBC News Network documentary Connect with Mark Kelley , entitled "Fighting Huntington's disease". [6] The episode was nominated for a Gemini Award for 'Best Lifestyle/Practical Information Segment'. [4] [5]
In 2011, with financial support from the national Huntington's disease lay organizations of the US, [22] Canada, [23] England & Wales, [24] Scotland [25] and Germany, [26] Carroll and Wild co-founded HDBuzz, an online source of accessible news about Huntington's disease research, written by scientists. [3] [16] HDBuzz was awarded the HD Association of Northern Ireland's 2011 Award for Scientific Communication [27] and the 2012 Michael Wright Community Development Award from the Huntington Society of Canada. [28] HDBuzz was the subject of an article in the scientific journal Trends in Molecular Medicine in October 2011 entitled 'HDBuzz: empowering patients through accessible education'. [16]
Carroll's life, family and research were the subject of the 2012 documentary feature film Do You Really Want to Know?, directed by Academy Award-winning Canadian film maker John Zaritsky and screened at the DOXA Documentary Film Festival. The film won several awards, including Best Documentary at the 2012 Okanagan Film Festival, Best Science / Medicine Technology Documentary and Best Non-fiction Director at the 2012 Yorkton Film Festival and Best Science / Technology Film at the 2012 Columbus International Film Festival. [29] [30] [31] Carroll was also the subject of a November 2012 feature on CBC radio show DNTO . [32]
Along with HDBuzz co-founder Dr Ed Wild, Carroll received the 2012 Michael Wright Community Development Award from the Huntington Society of Canada. [28]
Carroll lives in Bellingham, Washington with his wife Megan and two children, Raven and Elijah (born June 27, 2006), non-identical twins born through in-vitro fertilization using pre-implantation genetic diagnosis to ensure that they did not inherit a risk of Huntington's disease. [2] [6]
Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease that is mostly inherited. The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities. A general lack of coordination and an unsteady gait often follow. It is also a basal ganglia disease causing a hyperkinetic movement disorder known as chorea. As the disease advances, uncoordinated, involuntary body movements of chorea 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, depression, apathy, and impulsivity at times. The specific symptoms vary somewhat between people. Symptoms usually begin between 30 and 50 years of age, and can start at any age but are usually seen around the age of 40. The disease may develop earlier in each successive generation. About eight percent of cases start before the age of 20 years, and are known as juvenile HD, which typically present with the slow movement symptoms of Parkinson's disease rather than those of chorea.
Repeated sequences are short or long patterns that occur in multiple copies throughout the genome. In many organisms, a significant fraction of the genomic DNA is repetitive, with over two-thirds of the sequence consisting of repetitive elements in humans. Some of these repeated sequences are necessary for maintaining important genome structures such as telomeres or centromeres.
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 its involvement in long-term memory storage.
Huntingtin-interacting protein 1 also known as HIP-1 is a protein that in humans is encoded by the HIP1 gene.
Intraflagellar transport protein 57 homolog is a protein that in humans is encoded by the IFT57 gene.
Palmitoyltransferase ZDHHC17 is an enzyme that contains a DHHC domain that in humans is encoded by the ZDHHC17 gene.
Huntington's disease (HD) has been shown in numerous formats, more so as awareness of the condition has increased. Here is a list of references to it in popular culture;
Pridopidine is an orally administrated small molecule investigational drug. Pridopidine is a selective and potent Sigma-1 Receptor agonist. It is being developed by Prilenia Therapeutics and is currently in late-stage clinical development for Huntington's disease (HD) and amyotrophic lateral sclerosis (ALS).
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.
Charles Edward Sabine is a British television journalist who worked for the US Network NBC News for twenty-six years, before becoming a global spokesman for patients and families with degenerative brain diseases. He is active throughout advocacy and charity sectors across four continents and founder of the Hidden No More Foundation. He has 2 children, Roman and Sabrina.
The Hereditary Disease Foundation (HDF) aims to cure genetic disorders, notably Huntington's disease, by supporting basic biomedical research.
The Centre for Molecular Medicine and Therapeutics (CMMT) is part of the University of British Columbia's Faculty of Medicine. The Centre is located at the British Columbia Children's Hospital Research Institute (BCCHR) in Vancouver, British Columbia, Canada. Research at CMMT is focused on discovering genetic susceptibility to illnesses such as Huntington Disease, Type 2 diabetes and bipolar disorder.
Michael R. Hayden, is a Killam Professor of Medical Genetics at the University of British Columbia, the highest honour UBC can confer on any faculty member. Only four such awards have ever been conferred in the Faculty of Medicine. Dr. Hayden is also Canada Research Chair in Human Genetics and Molecular Medicine. Hayden is best known for his research in Huntington disease (HD).
The CHDI Foundation, Inc., is a United States–based non-profit biomedical foundation that aims to "rapidly discover and develop drugs that delay or slow the progression of Huntington's disease", a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline.
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.
Sarah Joanna Tabrizi FMedSci FRS is a British neurologist and neuroscientist in the field of neurodegeneration, particularly Huntington's disease. She is a Professor and Joint Head of the Department of Neurodegenerative Diseases at the UCL Institute of Neurology; the founder and Director of the UCL Huntington's Disease Centre; a Principal Investigator at the UK Dementia Research Institute at UCL; and an Honorary Consultant Neurologist at the National Hospital for Neurology and Neurosurgery, Queen Square, London, where she established the Multidisciplinary Huntington's Disease Clinic. The UCL Huntington’s Disease Centre was officially opened on 1 March 2017 by UCL President and Provost Professor Michael Arthur.
Michelle Gray is an American neuroscientist and assistant professor of neurology and neurobiology at the University of Alabama Birmingham. Gray is a researcher in the study of the biological basis of Huntington's disease (HD). In her postdoctoral work, she developed a transgenic mouse line, BACHD, that is now used worldwide in the study of HD. Gray's research now focuses on the role of glial cells in HD. In 2020 Gray was named one of the 100 Inspiring Black Scientists in America by Cell Press. She is also a member of the Hereditary Disease Foundation’s scientific board.
Edward Wild, also known as Ed Wild, is a British neurologist and neuroscientist in the field of Huntington's disease and an advocate for scientific outreach to the public. He co-founded the Huntington's research news platform HDBuzz in 2010. He is a professor of neurology at UCL Institute of Neurology and is an associate director of the UCL Huntington's Disease Centre. He is also a consultant neurologist at the National Hospital for Neurology and Neurosurgery in London.
Georg Bernhard Landwehrmeyer FRCP is a German neurologist and neuroscientist in the field of neurodegeneration primarily focusing on Huntington's disease. Landwehrmeyer is a professor of neurology at Ulm University Hospital. He was one of the founders of the European Huntington's Disease Network (EHDN) in 2004 and was chairman of its executive committee until 2014.
Dimitri Krainc is a Slovenian-born American physician-scientist who is the Aaron Montgomery Ward Professor and Chairman of the Ken & Ruth Davee Department of Neurology and Director of the Feinberg Neuroscience Institute and the Simpson Querrey Center for Neurogenetics at Northwestern University Feinberg School of Medicine. After completing his medical training at the University of Zagreb, Krainc spent more than two decades at the Massachusetts General Hospital and Harvard Medical School, where he completed his research and clinical training and served on faculty until relocating to Northwestern University in 2013. He has dedicated his scientific career to studying molecular pathways in the pathogenesis of neurodegeneration. Informed by genetic causes of disease, his work has uncovered key mechanisms across different neurodegenerative disorders that have led to pioneering design and development of targeted therapies. He has received numerous awards and recognitions for his work, including the Javits Neuroscience Investigator Award and the Outstanding Investigator award from NIH, and was elected to the Association of American Physicians, the National Academy of Medicine, the National Academy of Inventors and the Croatian Academy of Sciences and Arts He is the principal founding scientist of two biotech companies and serves as Venture Partner at OrbiMed. Krainc is President-elect of the American Neurological Association.
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