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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.
… That event was extremely helpful in revealing some of the major issues that are on the minds of genome … to direct the program today. With the goal of improving disease management for individual patients and advancing … robust clinical evaluations, the UDP employs cutting-edge genomic analyses, such as scans for single-nucleotide …
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 … in children, that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of …
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 … work on the human skin microbiome and the use of genomic tools to advance the tracking and control of … health and health disparities Discovery of the genetic basis of childhood cancers and of structural birth defects: …
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. … … carry the sickle cell trait, which means they are carriers of the disease. Sickle cell disease is caused by a mutation …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… Sheena Faherty, Ph.D. … 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). … Clinical and research …
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.
… Steven Benowitz … Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied … 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 …
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 … inherited disorder associated with the progressive loss of brain and muscle function. Symptoms usually develop during …
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. … Basic research exploring human and nonhuman … gene therapy has grown tremendously since the discovery of CRISPR, the vast majority of work undertaken by scientists funded by NHGRI or other NIH …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… and their association with lifespan in Iceland 3. Impact of digitally enhanced genetic results disclosure in diverse … GA, Ramos EM, Roden DM, Rowley R, Taylor CO, Williams MS. Genomic medicine year in review: 2024 . Am J Hum Genet . 2024 … notable accomplishments in genomic medicine on a monthly basis and post them to the Accomplishments in Genomic …
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… Benowitz … A dozen awards from the National Institutes of Health will support research that incorporates DNA … and Genomics (eMERGE) network is to better understand the genomic basis of disease and to tailor medical care to individual …