Jeff Carroll
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Jeff Carroll
Jeffrey Bryan Carroll is an American 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. Early life and family history Born in Seattle on August 18, 1977 to parents Cindy and Jim, Carroll is one of six siblings. He joined the US Army in 1998, serving in Kosovo. While serving in the army, Carroll's mother was diagnosed as suffering from Huntington's disease (HD), a fatal, incurable, genetically inherited neurodegenerative illness. 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 ...
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Seattle, Washington
Seattle ( ) is a port, seaport city on the West Coast of the United States. It is the county seat, seat of King County, Washington, King County, Washington (state), Washington. With a 2020 population of 737,015, it is the largest city in both the U.S. state, state of Washington and the Pacific Northwest region of North America. The Seattle metropolitan area's population is 4.02 million, making it the List of metropolitan statistical areas, 15th-largest in the United States. Its growth rate of 21.1% between 2010 and 2020 makes it one of the nation's fastest-growing large cities. Seattle is situated on an isthmus between Puget Sound (an inlet of the Pacific Ocean) and Lake Washington. It is the northernmost major city in the United States, located about south of the Canada–United States border, Canadian border. A major gateway for trade with East Asia, Seattle is the fourth-largest port in North America in terms of container handling . The Seattle area was inhabited by Nat ...
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Yeast Artificial Chromosome
Yeast artificial chromosomes (YACs) are genetically engineered chromosomes derived from the DNA of the yeast, ''Saccharomyces cerevisiae'', which is then ligated into a bacterial plasmid. By inserting large fragments of DNA, from 100–1000 kb, the inserted sequences can be cloned and physically mapped using a process called chromosome walking. This is the process that was initially used for the Human Genome Project, however due to stability issues, YACs were abandoned for the use of Bacterial artificial chromosomes (BAC). Beginning with the initial research of the Rankin et al., Strul et al., and Hsaio et al., the inherently fragile chromosome was stabilized by discovering the necessary autonomously replicating sequence (ARS); a refined YAC utilizing this data was described in 1983 by Murray et al. The primary components of a YAC are the ARS, centromere, and telomeres from ''S. cerevisiae''. Additionally, selectable marker genes, such as antibiotic resistance and a visible ...
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Emmy Award
The Emmy Awards, or Emmys, are an extensive range of awards for artistic and technical merit for the American and international television industry. A number of annual Emmy Award ceremonies are held throughout the calendar year, each with their own set of rules and award categories. The two events that receive the most media coverage are the Primetime Emmy Awards and the Daytime Emmy Awards, which recognize outstanding work in American primetime and daytime entertainment programming, respectively. Other notable U.S. national Emmy events include the Children's & Family Emmy Awards for children's and family-oriented television programming, the Sports Emmy Awards for sports programming, News & Documentary Emmy Awards for news and documentary shows, and the Technology & Engineering Emmy Awards and the Primetime Engineering Emmy Awards for technological and engineering achievements. Regional Emmy Awards are also presented throughout the country at various times through the year, re ...
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Edward Wild (neuroscientist)
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. Career Wild studied medicine at Christ's College, Cambridge. In his early career, he studied and published on the neurological phenomenon of déjà vu. He undertook a PhD, supervised by professor Sarah Tabrizi, at the UCL Institute of Neurology, Queen Square, London, during which he published research on biomarkers for Huntington's disease using magnetic resonance imaging measures of brain atrophy and biochemical analysis of blood. Wild and Tabrizi continue to work together at the UCL Huntington's Disease Centre. ...
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Huntington's Disease Society Of America
The Huntington's Disease Society of America is a US non-profit organization dedicated to improving the lives of those affected by Huntington's disease, an incurable, genetically transmitted degenerative disease of the nervous system that affects movement, thinking, and some aspects of personality. The Huntington's Disease Society of America is the largest non-profit volunteer organization dedicated to improving the lives of everyone affected by Huntington's Disease. Founded in 1967 by Marjorie Guthrie, wife of folk legend Woody Guthrie who died of HD, the Society works to provide the family services, education, advocacy and research for the more than 41,000 people diagnosed with HD in the United States. HDSA supports and participates in the HD Drug Research Pipeline, which develops potential therapies to treat and eventually cure HD; and HDSA also supports 50+ HDSA Centers of Excellence at major medical facilities throughout the U.S., where people with HD and their families r ...
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Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breeding, ...
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Preimplantation Genetic Diagnosis
Preimplantation genetic diagnosis (PGD or PIGD) is the genetic profiling of embryos prior to implantation (as a form of embryo profiling), and sometimes even of oocytes prior to fertilization. PGD is considered in a similar fashion to prenatal diagnosis. When used to screen for a specific genetic disease, its main advantage is that it avoids selective abortion, as the method makes it highly likely that the baby will be free of the disease under consideration. PGD thus is an adjunct to assisted reproductive technology, and requires in vitro fertilization (IVF) to obtain oocytes or embryos for evaluation. Embryos are generally obtained through blastomere or blastocyst biopsy. The latter technique has proved to be less deleterious for the embryo, therefore it is advisable to perform the biopsy around day 5 or 6 of development. The world's first PGD was performed by Handyside, Kontogianni and Winston at the Hammersmith Hospital in London. Female embryos were selectively transferred ...
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Metabolic
Metabolism (, from el, μεταβολή ''metabolē'', "change") is the set of life-sustaining chemical reactions in organisms. The three main functions of metabolism are: the conversion of the energy in food to energy available to run cellular processes; the conversion of food to building blocks for proteins, lipids, nucleic acids, and some carbohydrates; and the elimination of metabolic wastes. These enzyme-catalyzed reactions allow organisms to grow and reproduce, maintain their structures, and respond to their environments. The word metabolism can also refer to the sum of all chemical reactions that occur in living organisms, including digestion and the transportation of substances into and between different cells, in which case the above described set of reactions within the cells is called intermediary (or intermediate) metabolism. Metabolic reactions may be categorized as ''catabolic'' – the ''breaking down'' of compounds (for example, of glucose to pyruvate by cel ...
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Harvard University
Harvard University is a private Ivy League research university in Cambridge, Massachusetts. Founded in 1636 as Harvard College and named for its first benefactor, the Puritan clergyman John Harvard, it is the oldest institution of higher learning in the United States and one of the most prestigious and highly ranked universities in the world. The university is composed of ten academic faculties plus Harvard Radcliffe Institute. The Faculty of Arts and Sciences offers study in a wide range of undergraduate and graduate academic disciplines, and other faculties offer only graduate degrees, including professional degrees. Harvard has three main campuses: the Cambridge campus centered on Harvard Yard; an adjoining campus immediately across Charles River in the Allston neighborhood of Boston; and the medical campus in Boston's Longwood Medical Area. Harvard's endowment is valued at $50.9 billion, making it the wealthiest academic institution in the world. Endowment inco ...
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Antisense Oligonucleotide
Oligonucleotides are short DNA or RNA molecules, oligomers, that have a wide range of applications in genetic testing, research, and forensics. Commonly made in the laboratory by solid-phase chemical synthesis, these small bits of nucleic acids can be manufactured as single-stranded molecules with any user-specified sequence, and so are vital for artificial gene synthesis, polymerase chain reaction (PCR), DNA sequencing, molecular cloning and as molecular probes. In nature, oligonucleotides are usually found as small RNA molecules that function in the regulation of gene expression (e.g. microRNA), or are degradation intermediates derived from the breakdown of larger nucleic acid molecules. Oligonucleotides are characterized by the sequence of nucleotide residues that make up the entire molecule. The length of the oligonucleotide is usually denoted by "-mer" (from Greek ''meros'', "part"). For example, an oligonucleotide of six nucleotides (nt) is a hexamer, while one of 25 nt woul ...
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Gene Silencing
Gene silencing is the regulation of gene expression in a cell to prevent the expression of a certain gene. Gene silencing can occur during either transcription or translation and is often used in research. In particular, methods used to silence genes are being increasingly used to produce therapeutics to combat cancer and other diseases, such as infectious diseases and neurodegenerative disorders. Gene silencing is often considered the same as gene knockdown. When genes are silenced, their expression is reduced. In contrast, when genes are knocked out, they are completely erased from the organism's genome and, thus, have no expression. Gene silencing is considered a gene knockdown mechanism since the methods used to silence genes, such as RNAi, CRISPR, or siRNA, generally reduce the expression of a gene by at least 70% but do not eliminate it. Methods using gene silencing are often considered better than gene knockouts since they allow researchers to study essential genes that are r ...
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Allele
An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution. ::"The chromosomal or genomic location of a gene or any other genetic element is called a locus (plural: loci) and alternative DNA sequences at a locus are called alleles." The simplest alleles are single nucleotide polymorphisms (SNP). but they can also be insertions and deletions of up to several thousand base pairs. Popular definitions of 'allele' typically refer only to different alleles within genes. For example, the ABO blood grouping is controlled by the ABO gene, which has six common alleles (variants). In population genetics, nearly every living human's phenotype for the ABO gene is some combination of just these six alleles. Most alleles observed result in little or no change in the function of the gene product it codes for. However, ...
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