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 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. 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 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.
Susan Lee Lindquist, ForMemRS was an American professor of biology at MIT specializing in molecular biology, particularly the protein folding problem within a family of molecules known as heat-shock proteins, and prions. Lindquist was a member and former director of the Whitehead Institute and was awarded the National Medal of Science in 2010.
The International HapMap Project was an organization that aimed to develop a haplotype map (HapMap) of the human genome, to describe the common patterns of human genetic variation. HapMap is used to find genetic variants affecting health, disease and responses to drugs and environmental factors. The information produced by the project is made freely available for research.
Arvid Carlsson was a Swedish neuropharmacologist who is best known for his work with the neurotransmitter dopamine and its effects in Parkinson's disease. For his work on dopamine, Carlsson was awarded the Nobel Prize in Physiology or Medicine in 2000, together with Eric Kandel and Paul Greengard.
Antisense therapy is a form of treatment that uses antisense oligonucleotides (ASOs) to target messenger RNA (mRNA). ASOs are capable of altering mRNA expression through a variety of mechanisms, including ribonuclease H mediated decay of the pre-mRNA, direct steric blockage, and exon content modulation through splicing site binding on pre-mRNA. Several ASOs have been approved in the United States, the European Union, and elsewhere.
Trinucleotide repeat disorders, also known as microsatellite expansion diseases, are a set of over 50 genetic disorders caused by trinucleotide repeat expansion, a kind of mutation in which repeats of three nucleotides increase in copy numbers until they cross a threshold above which they become unstable. Depending on its location, the unstable trinucleotide repeat may cause defects in a protein encoded by a gene; change the regulation of gene expression; produce a toxic RNA, or lead to chromosome instability. In general, the larger the expansion the faster the onset of disease, and the more severe the disease becomes.
Sir Salvador Moncada, FRS, FRCP, FMedSci is a Honduran-British pharmacologist and professor. He is currently Research Domain Director for Cancer at the University of Manchester.
Bert Vogelstein is director of the Ludwig Center, Clayton Professor of Oncology and Pathology and a Howard Hughes Medical Institute investigator at The Johns Hopkins Medical School and Sidney Kimmel Comprehensive Cancer Center. A pioneer in the field of cancer genomics, his studies on colorectal cancers revealed that they result from the sequential accumulation of mutations in oncogenes and tumor suppressor genes. These studies now form the paradigm for modern cancer research and provided the basis for the notion of the somatic evolution of cancer.
Jim Giles is a journalist and business executive. He is currently a vice president at GreenBiz.
Mark Bender Gerstein is an American scientist working in bioinformatics. As of 2009, he is co-director of the Yale Computational Biology and Bioinformatics program, and Albert L. Williams Professor of Biomedical Informatics, Professor of Molecular Biophysics & Biochemistry and Professor of Computer Science at Yale University. In 2018, Gerstein was named co-director of the Yale Center for Biomedical Data Science.
Sanford Burnham Prebys is a 501(c)(3) non-profit medical research institute focusing on basic and translational research, with major research programs in cancer, neurodegeneration, diabetes, and infectious, inflammatory, and childhood diseases. The Institute also specializes in stem cell research and drug discovery technologies.
Rodents are commonly used in animal testing, particularly mice and rats, but also guinea pigs, hamsters, gerbils and others. Mice are the most commonly used vertebrate species, due to their availability, size, low cost, ease of handling, and fast reproduction rate.
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.
Sage Bionetworks is a nonprofit organization in Seattle that promotes open science and patient engagement in the research process. It is led by Lara Mangravite. It was co-founded by Stephen Friend and Eric Schadt.
George C. Prendergast is an American biomedical scientist. His research has focused on cancer pathobiology and immunology. Since 2004, he has been the President and CEO of Lankenau Institute for Medical Research, a cancer-focused research center in the U.S. He is also the co-director of the Program in Cancer Cell Biology & Signaling at the Sidney Kimmel Cancer Center, Thomas Jefferson University.
Gonçalo Rocha Abecasis is a Portuguese American biomedical researcher at the University of Michigan and was chair of the Department of Biostatistics in the School of Public Health. He leads a group at the Center for Statistical Genetics in the Department of Biostatistics, where he is also the Felix E. Moore Collegiate Professor of Biostatistics and director of the Michigan Genomic Initiative. His group develops statistical tools to analyze the genetics of human disease.
Wendy Anne Bickmore is a British genome biologist known for her research on the organisation of genomic material in cells.
Li-Huei Tsai is a neuroscientist and the director of the Picower Institute for Learning and Memory in the Department of Brain and Cognitive Sciences at the Massachusetts Institute of Technology.
Paul J. Tesar is an American developmental biologist. He is the Dr. Donald and Ruth Weber Goodman Professor of Innovative Therapeutics at Case Western Reserve University School of Medicine. His research is focused on regenerative medicine.
Edward Wild, also known as Ed Wild, is a British neurologist and neuroscientist in the field of Huntington's disease and 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.
