Search Results
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system. … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly … in children, that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited blood disorder in the … carry the sickle cell trait, which means they are carriers of the disease. Sickle cell disease is caused by a mutation …
Secondary Genomics Finding Service
The SGFS can support annotation of up to 2000 exomes/genomes per year on a first-come, first-served basis.
… Genomics Finding Service (SGFS) can support annotation of up to 2000 exomes/genomes per year on a first-come, first-served basis. The SGFS is open to any Intramural Investigator and can analyze a maximum of 200 samples every 6 months per study or a one-time …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… to develop a graphical display illustrating the scale of human genome sequence. The wall is now enhanced with a representation of ~1/1000th of the human genome sequence – specifically, about 3 million … ‘Genomics2020’ Strategic Planning events include: one of two data science web-based workshops  held on Oct. 31, …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness … - to answer questions from the Reddit community as part of an "Ask Me Anything" (AMA). … uses genome sequencing in the clinic, along with a network of experts, to provide answers for patients and families …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function. … Huntington's Disease, Genetic Disease, Genes, Autosomal Dominant … inherited disorder associated with the progressive loss of brain and muscle function. Symptoms usually develop during …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied … genetic and biochemical influences in the development of stroke and cardiovascular disease, and may also help lead to new treatment strategies.  … study, researchers scan the genome to identify specific genomic variants associated with a disease. In this case, the …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… In the first study of its kind, researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 is a gene editing technology …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… on cancer, mental health, rare diseases, and many other disease areas. … to help scientists understand the basic biology underlying disease, as well as to discover new possible therapeutic … gene therapy has grown tremendously since the discovery of CRISPR, the vast majority of work undertaken by scientists …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… not accept all applicants due to the complex nature of the body and the diseases being investigated. … Manuscripts View a curated list of UDN Coordinating Center publications dating back to 2015. … clinical sites. The DMCC will also support Research Cores (genomic sequencing, model organisms screening center, …