Search Results
Research Funding
The Genotype-Tissue Expression (GTEx) Project will create a resource that researchers can use to study how inherited changes in genes lead to common diseases
… can use to study how inherited changes in genes lead to common diseases. It will establish a database and a tissue bank that … as planned for GTEx. GTEx is funded through the NIH Common Fund, which supports innovative projects involving … our understanding of how changes in genes contribute to common human diseases. This knowledge will improve health …
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 … Nir Hacohen, Ph.D. To understand the DNA drivers of common human diseases (using immune diseases as test cases), … plan to analyze how DNA variants that are associated with common immune diseases cause individuals to differ in their …
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 …
Genetic Disorders
Breast cancer is the second most common cancer in women after skin cancer.
… Breast cancer is the second most common cancer in women after skin cancer. Each year, … Breast cancer is a common disease. Each year, approximately 200,000 women in the … Breast cancer is the second most common cancer in women after skin cancer. Approximately … Breast cancer is the second most common cancer in women after skin cancer. …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… non-neuronopathic (type 1). Type 1 GD: This is the most common presentation of GD in the United States and in the … usually less than 2 years.  Type 3 GD: Type 3 is the most common presentation of Gaucher disease worldwide. Again, … manifestations associated with Gaucher disease. Diseases. 2;5(1). pii: E10. doi: 10.3390/diseases5010010. …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… in men as a result of an extra X chromosome. The most common symptom is infertility. … in men as a result of an extra X chromosome. The most common symptom is infertility. Humans have 46 chromosomes, … variations of the XXY chromosome count may occur, the most common being the XY/XXY mosaic. In this variation, some of …
Educational Resources
Lyonization is commonly known as X-inactivation. In mammals, males receive one copy of the X chromosome while females receive two copies.
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.