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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Staff
Dr. Laura Koehly is the chief of and senior investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
… Koehly is particularly interested in how genetic/genomic risk information can be used to activate network processes to … to develop effective strategies to help families cope with disease-risk information, to increase patients' willingness … to risk in families across a diverse array of disease assessments. They also are investigating the role of …
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… asked patients, parents and physicians in the sickle cell disease community what they wanted and needed to know about … of the Bioethics Core at NHGRI. “By talking to sickle cell disease stakeholders ahead of time, we can learn more about … make very a difficult decision.” By talking to sickle cell disease stakeholders ahead of time, we can learn more about …
Fact Sheet
Understanding gene therapy for sickle cell disease
… Sickle cell disease is the most common inherited blood disorder in the … only a handful of options to manage or treat sickle cell disease. Now, researchers are developing new and emerging gene therapies to treat sickle cell disease. To help navigate these new therapies, more than 50 …
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… two gene therapies for the treatment of sickle cell disease in patients 12 years and older. About 100,000 … and millions of people around the world have sickle cell disease , a hereditary disease common among those whose ancestors come from …
Clinical Research
FAQs for participants in the Autoinflammatory Diseases Study.
… that are highly suspicious for a given autoinflammatory disease, we can look at the genes that we know cause that disease in our lab. This testing will usually take between a … if a person has symptoms indicative of an autoinflammatory disease – but not a specific one – we may decide to test …
Clinical Research
FAQs for Autoinflammatory Diseases Study providers and researchers.
… than 1 month and who have evidence of autoinflammatory disease (such as persistently elevated CRP ). We accept … family members, giving a stronger indication of genetic disease; however, we will also consider individual patients. …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… both clinical and basic research aspects of Gaucher disease and Parkinson's disease, and her group first identified glucocerebrosidase as a risk factor for parkinsonism. She has spearheaded two large …
Profile
Dr. Hanchard talks about his journey into genetics research, his collaborations with international researchers, and the importance of determination in science.
… Health Research and head of the Childhood Complex Disease Genomics Section within the Intramural Research … such as malnutrition, hypertension and sickle cell disease in diverse populations. He also works with a highly … transfusion treatments seen in patients with sickle cell disease. Many of the conditions that Dr. Hanchard studies are …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… patients with HA20 (haploinsufficiency of A20), a disease that may be associated with inflammatory liver disease and is investigating medications that will prevent … prevent caspase cleavage of RIPK1 cause autoinflammatory disease . Nature . 2020 Jan;577(7788):103-108. Ombrello AK, …
Staff
Dr. Lanata is a staff clinician in NHGRI's Genomics of Autoimmune Rheumatic Disease Section.
… Dr. Lanata joined the Genomics of Autoimmune Rheumatic Disease Section, at NHGRI. She is an expert in population … disparities. Within the Genomics of Autoimmune Rheumatic Disease Section, she leads a multi-omics translational … the environmental and genetic effects of disease risk and outcomes. In addition, as there is an unmet need to …