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- Genome Technology Program2
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Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryx™ fingerstick at-home sampling.
Staff
Dr. Simona Volpi is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
… National Human Genome Research Institute. … Simona Volpi, common diseases, Genotype-Tissue Expression Project (GTEx), NIH Common Fund … Dr. Simona Volpi is a program director in the …
Genetic Disorders
Skin cancer is the most common type of cancer in the United States.
… Skin cancer is the most common type of cancer in the United States. An estimated 40 … have skin cancer at least once. … Skin cancer is the most common type of cancer in the United States. An estimated 40 … to age 65 will have skin cancer at least once. The most common skin cancer is basal cell carcinoma, which accounts …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. … … are found in each child who is born with VCFS. The most common features are palatal differences (~75 percent), heart … Syndrome … Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. … …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
… Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and at the National Human Genome Research … been identified for ~85% of genes associated with human diseases. Therefore, when a candidate gene for a disease or … Institute. … Raman Sood, zebrafish, rare diseases, common diseases, genetic disease, animal models of disease … …
Event
On December 12-13, NHGRI and NIAID will sponsor the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… in the diagnosis, prevention, and treatment of infectious diseases Examine obstacles and potential solutions to … of host genomic information in clinical care of infectious diseases … Meeting Objectives … On December 12-13, 2024, the … and the National Institute of Allergy and Infectious Diseases (NIAID) will co-sponsor the 16th Genomic Medicine …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… of physical traits of people with many different inherited diseases around the world, including Asia, the Indian … often does not represent the characteristics of these diseases in patients from other parts of the world. …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… nationwide to begin the second phase of the Undiagnosed Diseases Network (UDN). The total investment planned for the … support and joint leadership for the network via the NIH Common Fund. "By bringing together a nationwide network of … human health. Learn more at genome.gov . About the NIH Common Fund: The NIH Common Fund encourages collaboration and …