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Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… to the patient. … Familial Mediterranean Fever (FMF) TNF Receptor Associated Periodic Fever Syndrome (TRAPS) …
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… cell lung cancer patients to gefitinib, a small molecule inhibitor of EGFR. Upon joining NHGRI in 2006, Dr. Bell … cell lung cancer patients to gefitinib, a small molecule inhibitor of EGFR .  The image shows an H&E stained section …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
News Release
Stomach cancers fall into four distinct molecular subtypes researchers with The Cancer Genome Atlas Network have found.
Staff
Dr. Ours is an Assistant Research Physician at the Center for Precision Health Research, NHGRI.
… the evaluation of the efficacy of miransertib, a pan-AKT inhibitor, in the Proteus syndrome study ( NCT04316546 ). … …
News Release
Researchers are asking if the precision medicine approach will reduce or eliminate the role that race plays in prescribing drugs and in health care overall.
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… lifespan. FDA approved lonafarnib (a farnesyltransferase inhibitor) for HGPS in 2021. In a complementary approach, the … FD, Virmani R, Nabel EG, Collins FS. A farnesyltransferase inhibitor prevents both the onset and late progression of …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
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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… study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough. Pharmacogenomics, J .doi: … Garcia, K Yaffe, RG Wunderink. 4G/5G plasminogen activator inhibitor-1 polymorphisms and haplotypes are associated with … Rodondi, R Li, J Zmuda, TB. Harris. Plasminogen activator inhibitor type 1 gene polymorphisms and haplotypes are …
For Patients and Families
​Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.​