Search Results
Research Funding
The following are research areas of interest that have been identified by the participating NIH institutes, centers, and offices (ICOs) on the investigator-initiated ELSI Research Grants (R01, R21, R03). Program Officer(s) contact information is also included for each ICO.
… seeks to explore and address challenges in the effective delivery of genomic medicine. Research might examine how … Information. Issues arising in the standardization, delivery, interpretation and use of genomic information in a … technologies and related patient outcomes of cancer care delivery (examples of context include community setting vs. …
File
… 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 …
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 …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… Working Group is multi-faceted: Explore return of result delivery models for genomic testing across diverse … of results process including information received, mode of delivery and overall patient experience. The WG will … consent and return of results processes, as well as the delivery and personal utility of genomic medicine more …
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 …
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 …
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 …
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 …
News Release
Receiving a cancer diagnosis can feel like losing control of everything.
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… phases: In Phase I clinical trials, researchers test a new drug or treatment for the first time in a small group of … side effects. In Phase II clinical trials, the study drug or treatment is given to a larger group of people (about … patients with the particular disease, to see if the drug or treatment is effective, and to further evaluate its …