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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research … cultured cells to exhibit the signature traits of the disease. Using this model, they have now tested a drug … that cause Gaucher disease were an important genetic risk factor for developing the more common disorder …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting … a functional copy of the NPC1 gene into mice with the disease; the treated animals were then found to have less … in the journal Human Molecular Genetics . Niemann-Pick disease is a rare and fatal disorder of the central nervous …
News Release
NHGRI researchers have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer.
… shows 70% of people who use the workbook discuss their disease risks and health history with family members. … … have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer. Since …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on this ultra-rare disease, found in approximately 600 people in the world, were … with ECD provides hope for improving the diagnoses of a disease that affects so many parts of the body. We also hope …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… look at the genetic differences that increase a person's risk for disease development. The findings, published today in the … the University of Michigan, reveal the complexity of the disease in more detail than previously appreciated, but also …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… have found that being a carrier for sickle cell disease, known as having sickle cell trait , increases the risk of blood clots, a risk that is the same among diverse … that may not traditionally be associated with sickle cell disease. The study provides estimated clinical risks for …
Educational Resources
Susceptibility is a condition of the body that increases the likelihood that the individual will develop a particular disease.
… likelihood that the individual will develop a particular disease. … Gene, Gene Environment Interaction, Inherited, Risk … Susceptibility, as related to genetics, refers to the … predisposed to, or sensitive to, developing a certain disease. An individual’s disease susceptibility is influenced …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 is a … to explore two approaches for reducing the burden of the disease. The first approach will let researchers correct the … increases the production of fetal hemoglobin which reduces disease severity. Study participants expressed overall …
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 … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational materials … provider or a clinical trial team. … What is Sickle Cell Disease?   National Institutes of Health (NIH)  About …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… (EMRs) to better understand the underlying genomics of disease. Many of the studies point to new associations of … (NIH). The major goal of eMERGE is to better understand disease risk and susceptibility and, ultimately, improve patient …