Search Results
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. … …
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
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 … …
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 …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… as plot points for television dramas. The Undiagnosed Diseases Program (UDP) was conceived by Dr. William Gahl … Diseases Network (UDN) was established by the NIH Common Fund. Growing out of the revolutionary work of the … 2018 NIH & NHGRI News NIH Approves Second Stage of ExRNA Common Fund Program All of Us Director Eric Dishman Clarifies …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.