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News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… diagnose rare diseases in non-Europeans, and to enable the delivery of critical, early interventions and better medical …
Educational Resources
AIDS is a collection of symptoms known as acquired immunodeficiency syndrome.
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.
… More than 6% of hospital admissions are due to adverse drug reactions, and avoiding such adverse reactions using … alters the protein and slows this transport, causing the drug to build up in the blood and leading to pain and muscle … the HER2 receptor can also be a target for treatment. The drug trastuzumab (one common brand name of which is …
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
… ; examining the impact of racial bias in health service delivery 17 and monitoring efforts within the biomedical …
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… Expecting Health meets a critical\ need in the health delivery landscape. We have tools that lead to more informed … Families Highlighted Activities Patient-Focused Drug Development PEER is presently deployed in our Patient Focused Drug Development Initiative, providing individuals with a …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… throughout the body. In December 2023, the U.S. Food and Drug Administration (FDA) approved two gene therapies to …
Research Funding
The following are research areas of interest that have been identified by the participating NIH institutes and centers (ICs). Program Officer contact information is also included.
… technologies and related patient outcomes of cancer care delivery (examples of context include community setting vs. … voice, speech, and language. … The National Institute on Drug Abuse (NIDA) is interested in research that focuses on … disorder trajectory, treatment recommendations, and drug-drug interactions in diverse patients. Research related …
Staff
Alanna Kulchak Rahm, is a certified genetic counselor, implementation scientist, and Program Director in the Division of Genomic Medicine.
… identifying individuals with genomic risk and new service delivery models for genomics, ethical and legal implications … Precision Medicine . 2020 17(1), 9-13. Rahm AK. Alternate delivery models for genetic counseling: clinical and …
15 Ways Genomics Influences Our World
Genomics is altering a genome with unparalleled efficiency and precision.
… the right time for effective therapy, there needs to be a delivery system that works for that specific body location. … the CRISPR tool itself  or the components involved in its delivery. … Beyond the technical issues, there are …
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… The Food and Drug Administration’s (FDA) Oversight and Regulation of …