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 …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
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 …