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Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… combines two scientific areas, pharmacology and genomics , to study how a person’s DNA affects their … providers better predict if a medication will be helpful for their patient, what dosage is most appropriate and if a … for an adverse reaction.  Pharmacogenomics is part of the growing medical areas of genomic medicine and precision …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… Yu Boston Children's Hospital VIGOR: Virtual Genome Center for Infant Health Caitlin Gloeckner Allen Medical University of South Carolina Facilitating the Implementation of Population-wide Genomic Screening … University of Washington Applying Population Management Best Practices to Preventive Genomic Medicine Iftikhar Kullo …
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.
…   2024 Year in Review 1. Testing and managing iron overload after genetic screening-identified … diverse families 4. Chronic disease polygenic risk scores for clinical implementation in diverse US populations 5. … precede diagnosis in electronic medical records  Read the full review: Manolio TA, Narula J, Rupert A, Bult CJ, …
For Patients and Families
Por lo general, se considera que una enfermedad es rara cuando afecta a menos de 200,000 personas en los Estados Unidos en cualquier momento dado.
… para enfermedades raras y desatendidas ( Therapeutics for Rare and Neglected Diseases , TRND), a fin de crear un canal de … de trastornos se encuentran la National Organization for Rare Diseases (Organización Nacional para Enfermedades … For Patients and Families …
For Patients and Families
La farmacogenómica combina la ciencia de cómo funcionan los medicamentos, llamada farmacologÃa, con la ciencia del genoma humano, llamada genómica.
… For Patients and Families …
For Patients and Families
Las pruebas genéticas usan métodos de laboratorio para estudiar sus genes. ​
… For Patients and Families …
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases. … The Department of Health and Human Services (HHS) has awarded … NHGRI Director Eric Green, M.D., Ph.D. "He exemplifies the best of a dedicated physician-scientist and serves as a role …
Media Advisory
With the publication of 16 high-quality reference genomes from across vertebrates, the Vertebrate Genome Project establishes standards for biodiversity genomics and reports discoveries in comparative biology, conservation, and health research
… researchers learn more about biodiversity, human health and disease. … The Vertebrate Genomes Project , part of the Genome 10K … of Scientists, today announced their flagship study and associated publications focused on genome assembly quality and standardization for the field of genomics. Researchers at the National Human …
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… Dr. Bell is a senior investigator at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. She received her B.Sc. (Honors) in Zoology and Genetics and her Ph.D. in Biology and Biochemistry from … Dr. Bell has devoted her career to understanding the genetic and genomic alterations that drive solid tumors. …
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… Dr. Settara Chandrasekharappa obtained his B.Sc. and M.Sc. from Bangalore University, and Ph.D. from The Indian Institute of Science, India in 1983. He completed … Core, he focused on employing genomic and cDNA libraries for genome research in genetic diseases. In 1993, Dr. …