Search Results
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… Marfan syndrome an inherited disorder of connective tissue occurring once in … Marfan syndrome is one of the most common inherited disorders of connective tissue. It is an autosomal … known to cause the syndrome, or a haplotype around FBN-1 inherited by descent and identified in a familial Marfan …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… pathway that plays a major role in several common diseases. Together, their findings may provide new clues to … of stroke, cardiovascular disease and many other common diseases," said Stephen R. Williams, Ph.D., a postdoctoral … are associated with an increased risk of common diseases such as stroke, cardiovascular disease and dementia. …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… Familial hypercholesterolemia is an inherited condition that causes high levels of low density … Familial hypercholesterolemia is an inherited condition that causes high levels of LDL (low … in their 50's and 60's). Familial hypercholesterolemia is inherited in families in an autosomal dominant manner. In …
Educational Resources
Gregor Mendel was an Austrian monk who in the 19th century worked out the basic laws of inheritance, even before the term "gene" had been coined.
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease … Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center … evaluation after acceptance in the UDP. The Undiagnosed Diseases Program pursues two goals: To provide answers to …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… (GWAS) to find regions of the genome associated with diseases and traits. In GWAS, the genomes of thousands of … Ph.D. To understand the DNA drivers of common human diseases (using immune diseases as test cases), the … RNA structure can lead to diseases in people, including an inherited eye cancer, retinoblastoma. They would like to …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… this dilemma? Evaluating all potential genetic features of inherited diseases by sequencing the genetic code is a powerful … practiced because the test is the same no matter what inherited disease the patient has," said Dr. Biesecker. The … Evaluating genetic features of inherited diseases by sequencing the genetic code helps with …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… to identify genes and genomic variants underlying human inherited disease across its full spectrum, including rare diseases likely to be due to rare variants with strong … enhance the ability of the community to pursue other human inherited diseases. For a summary of the process that led to …
News Release
Researchers identified connections in the brain that children with attention deficit hyperactivity disorder (ADHD) may inherit from their parents.
… and ranked them according to which were most likely to be inherited and play a role in ADHD. We're now asking which … Attention Deficit Hyperactivity Disorder, ADHD, inherited brain disorders, Phillip Shaw Ph.D., Social and …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… The UDP is part of the Undiagnosed Diseases Network , which brings together clinical and … to improve upon the 25 percent diagnosis rate for unknown diseases," said Thomas Markello, M.D., Ph.D., the study's … on average, 6.6 faulty genes in people with undiagnosed diseases compared to 5.8 faulty genes in their healthy …