Search Results
Fact Sheet
Sickle cell disease resources for patients
… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … only. They are meant to promote your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational materials …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN). The UDP was organized by the National … that elude diagnosis are considered undiagnosed and are of interest to this clinical research program. Thirty to …
15 Ways Genomics Influences Our World
Genomics is altering a genome with unparalleled efficiency and precision.
… we have decoded (that is, read out) the genome sequence of an organism, a logical next step would be to "edit" that genome  - perhaps to cure a genetic disease or to alter the a trait in a plant or animal. … that they could borrow tools from the immune system of bacteria  and develop "bacterial scissors" for surgically …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… Researchers with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a powerful new toolset for finding potential disease-causing gene variants in undiagnosed patients. The … we developed significantly narrows down the number of genomic changes that could be responsible for an individual's …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… The National Institutes of Health (NIH) recently awarded approximately $6.8 million … in grants to several research teams to study the biology of rare and undiagnosed diseases. The new grants, pending … studies to better understand the causes and development of these diseases, and to improve the ability of doctors to …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… A series of nearly 20 papers published online in 2014 highlights research on the use of DNA biorepositories and electronic medical records (EMRs) to better understand the underlying genomics of disease. Many of the studies point to new associations of … patient's data and disease characteristics with his or her genomic information collected from stored tissue specimens in …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Gaucher disease (GD) is a rare (autosomal recessive) genetic … byproduct stored in the lysosomes (recycling centers) of macrophages (clean-up cells of the immune system). In patients with GD, this enzyme does … Ongoing, currently recruiting: Studies of Genetic Heterogeneity in Patients with Lysosomal Storage …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy for sickle cell disease is available to you through FDA-approved therapies ( … ), and through clinical trials . While there are a number of clinical trials for sickle cell gene therapy, the journey … to a certain trial, you should learn about: Phases of a clinical trial. Study outcome(s). How researchers will …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… Study of millions of people from diverse ancestral groups substantially improves identification of genomic variants associated with blood lipid levels. … ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… As Summer 2020 comes to an end, many of us continue to spend the bulk of our time working from home. If you are seeking some … about bioethics and genomics research on Twitter as part of #AskDrGenome . Meanwhile, the NHGRI History of Genomics … and accomplishments from the institute and the field of genomics. …