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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: …
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 …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute. ​
… of novel genetic models to dissect resistance to thyroid hormone receptor a in zebrafish . Thyroid 30 (2):314-328. 2020. McElderry J, Carrington B, … from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus . Genomics 73: 211-222, 2001. Sood R , …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… a variety of conditions, including heart disease, breast cancer, and hearing loss. … Our goal is to enroll 1500 … Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… Klubo-Gwiezdzinska J (*Co-First Authors). Assessment of Thyroid Function in Patients with Alkaptonuria . JAMA Netw …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… Human Genome Research Institute (NHGRI) and the National Cancer Institute, both parts of NIH. … Comparing the genomes … can lead to diseases in people, including an inherited eye cancer, retinoblastoma. They would like to develop … University of California, San Diego/Ludwig Institute for Cancer Research; $2.3 million, three years Principal …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… underlie top genetic risk loci for glaucoma and colorectal cancer Mukamel et al. Cell 2023 Aug 17; 186(17): 3659-3673 … a larger influence on the risk for glaucoma and colorectal cancer, respectively, compared to previously identified … program, began when NHGRI partnered with the National Cancer Institute (NCI) to fund six research sites to ease the …
MINC
Contributors to the MINC toolkit
… Kathleen Calzone, Ph.D., R.N., AGN-BC, FAAN National Cancer Institute Donna Chase, M.S., R.N. South Shore Hospital … Cathy Glennon, R.N., MHS, OCN, NE-BC University of Kansas Cancer Center Beth Harkness, R.N., BSN, CPN Children’s … Hospital Barbara Tofani, R.N., MSN Hunterdon Regional Cancer Center … MINC Contributors … Contributors to the MINC …
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 … Anna-Katerina Hadjantonakis Sloan Kettering Institute for Cancer Research Johns Hopkins University School of Medicine Sloan Kettering Institute for Cancer Research Genomic control of gene regulatory networks …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… scientific societies, mostly recently at the American Thyroid Association, to her new role. With the numerous … ingenuity in genetics research. With a history in studying cancer genetics, Dr. Ostrander’s primary research focuses on …