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News Release
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… rare, fatal pediatric disease. … What The U.S. Food and Drug Administration has approved the first treatment for … of a mouse model, and the demonstration that this drug class could provide benefit. Progeria, also known as … FDA-approved treatment for progeria … The U.S. Food and Drug Administration has approved the first treatment for …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… research focused on adeno-associated virus (AAV) gene therapy for the treatment of hemophilia A, a genetically … Chandler’s research has focused on the efficacy of gene therapy as a treatment for rare genetic disorders, such as … have helped enable two clinical trials: one uses mRNA therapy and the other, AAV-mediated nuclease-free genome …
Staff
Dr. Julie Segre is chief and a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… tools to track hospital-acquired infections of multi-drug resistant organisms, including the NIH's recent … reconstructed a polymicrobial outbreak of multi-drug resistant Acinetobacter baumannii that swept through the … overall fitness. MGS's long-term goal is to create a drug strategy that capitalizes on the bacterium's loss of …
Profile
After major advances in hematology, David Bodine retires with an eye towards mentorship and a garden
David Bodine, founder of the Hematopoiesis Section and chief of the Genetics and Molecular Biology Branch, advanced the fields of gene therapy and hematology in his 38 years at the NIH. Now, he plans to continue his contributions to science as an emeritus and through training the next generation of scientists.
… you see as the most exciting future opportunities in gene therapy?  Bodine: When we founded the American Society of Gene Therapy, we wanted to make these therapies low cost and widely available. Now, 20 years later, gene therapy has been very successful for treating any number of …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… account a person's genetic information regarding specific drug receptors and how drugs are transported and metabolized … goal of pharmacogenetics is to create an individualized drug therapy that allows for the best choice and dose of drugs. …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… allowed them to study the response to liver-directed gene therapy and to compare the findings in patients after liver … "Our new markers can accurately predict how effective a therapy, whether cellular or genomic, might be for the … acidemia, medical genomics, genetic disorders, gene therapy, Charles Venditti … Researchers have discovered that …
Staff
Dr. Rongling Li is an epidemiologist and program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
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… medical records, gene-environment interactions, gene-drug interactions … Dr. Rongling Li is an epidemiologist and …
News Release
Receiving a cancer diagnosis can feel like losing control of everything.
… control of everything. … cancer, cancer diagnosis, cancer therapy, genome sequencing, Precision medicine, epigenome, …
Staff
Dr. Joshua Denny is the head of the NHGRI Precision Health Informatics Section and Chief Executive Officer of the National Institutes of Health’s All of Us Research Program.
… Program, and UK Biobank to better understand disease and drug response. Prior to joining the NIH in 2020, Josh was a … N. B., Dai, Q., … Denny, J. C. (2015). Validating drug repurposing signals using electronic health records: A … big (clinical) data and genomics on precision medicine and drug development. Clin Pharmacol Ther , 103(3):409-418. [ …
Policy Issues
Most ethical discussions about genome editing center on human germline editing because changes are passed down to future generations.
… at this time, but that studies that would make gene therapy  safe and effective should continue. 1 , 2  Most … it is impossible to obtain informed consent for germline therapy because the patients affected by the edits are the … from prospective parents as long as the risks of germline therapy are unknown. 10 Justice and Equity As with many new …