Search Results
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 …
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.
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… 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 …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… with gene editing 7. Validation of a clinical breast cancer risk assessment tool for all ancestries 8. Broader … with rare diseases 9. Benefits for children with suspected cancer from routine whole-genome sequencing 10. Clinical … … Population screening for hereditary breast and ovarian cancer is cost effective Australian implementation of …
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 …
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 …
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 …
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 …