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News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… generation of therapies. Sickle cell disease is the most common inherited blood disorder in the United States, … as well as damage to their hearts, lungs and kidneys. Some common themes emerged from the 15 focus groups. A major theme …
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 in her lifetime. … Breast cancer is a common disease. Each year, approximately 200,000 women in the … … About Breast Cancer … Breast cancer is the second most common cancer in women after skin cancer. Approximately …
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. … Klinefelter syndrome is a … 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 …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project utilizes a deliberative stakeholder-engagement approach to develop patient educational materials for sickle cell disease gene therapy.
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.
… genes. … 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 …
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. …
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.
Media Availability
Researchers have used a new combination of microfluidics and genomics to fish out a specific gut bacterium from the sea of microbes in the human microbiome.
… Microbiome Project (HMP). The HMP is supported by the NIH Common Fund and coordinated by the National Human Genome … NHGRI can be found at http://www.genome.gov . The NIH Common Fund encourages collaboration and supports a series of … the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, …
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 have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.