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Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… to Function and Phenotype HG011972 Marc Vidal Dana-Farber Cancer Institute Molecular phenotyping of ~100,000 coding … parallel reporter assay and PERTURB-seq assay in various lung relevant cell types, mainly airway epithelial cells, lung fibroblasts and endothelial cells. Another contribution …
Diversity Center
The Pacific Center for Genome Research (PCGR) at the University of Hawaii at Manoa (UHM) aims to grow and support Genomic Research workforce at UHM, a Minority Serving Institution (MSI), which has a mission to serve historically underrepresented population in biomedical research, namely, Native Hawaiians and other Pacific Islanders.
… populations.  Characterizing genomic risk factors of lung cancers in Native Hawaiians Lead: Youping Deng, Ph.D. Lung cancer is the second most common cancer in the United States …
Profile
In a conversation, Dr. Elise Feingold reflects on her path to NHGRI, describes her experience leading the ENCODE program and shares advice for those considering different scientific careers.
… I happened to be postdoctoral fellow at National Heart, Lung, and Blood Institute. While I really loved the science, … consortium was working collaboratively with the National Cancer Institute on the early phases of the Mammalian Gene …
Research at NHGRI
Families Sharing Health Assessment and Risk Evaluation (SHARE) helps you and your family learn how your family health history affects your risk for diseases.
… Colorectal Cancer Breast Cancer Prostate Cancer Type 2 Diabetes Heart Disease How to Use the Families … to reduce risk of heart disease, diabetes, breast cancer, and colorectal cancer . BMC Public Health,  15: …
FAQ
Questions and answers from the September 26, 2022, Multi-Omics for Health and Disease Consortium Pre-Application Webinar.
… both tumor and normal tissues from participants with cancer are strongly encouraged and will be prioritized for … setting this up could take some time. … Biosamples For the cancer DSS, can we propose just plasma collection and no … Collection of tumor samples from participants with cancer is encouraged but it is not a strict requirement. See …
Clinical Research
A study for patients with unexpected genetic results
… unexpected genetic test results about their risk for cancer, heart disease, and other conditions after having … treated or prevented. Many of these results are related to cancer risk and heart conditions . If you think you have … or Spanish  Received a genetic testing result related to cancer risk or heart disease even though they were not …
The Genomics Landscape
In the November 4, 2021 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details how NHGRI researchers are emphasizing the need for diversity in genomics.
… Medical School  John Tisdale, M.D., National Heart, Lung, and Blood Institute, NIH Moderator: Dan Kastner, M.D., …
The Genomics Landscape
In the June 2024 issue of The Genomics Landscape, NHGRI Director Eric Green recognizes the 2023 recipients of the Bettie J. Graham Leadership Award for Enhancing DEIA in the Genomics Workforce.
… and alpha-1-antitrypsin, a protein associated with lung and liver disease. The machine learning algorithm …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… ranging from cognitive disabilities to susceptibilities to cancer, obesity, diabetes, heart disease and other disorders. … the National Cancer Institute, the National Heart, Lung, and Blood Institute and the National Institute of … of the National Institutes of Health, the National Heart, Lung, and Blood Institute (NHLBI) plans, conducts, and …