Search Results
For Health Professionals
Archives of ISCC-PEG webinars, articles, case studies and more.
… Neck Surgery Title: Utilizing family history to identify Lynch Syndrome Type of Case Study: Family History In collaboration …
Staff
Alanna Kulchak Rahm, is a certified genetic counselor, implementation scientist, and Program Director in the Division of Genomic Medicine.
… causal chains associated with optimal implementation of Lynch syndrome tumor screening: An application of coincidence … oncogenomics model: improving the identification of Lynch syndrome . Front Oncol . 2023 May 26;13:1140135. doi: …
Staff
Dr. Laura Koehly is the chief of and senior investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.​
… genetic risk communication within families for whom Lynch syndrome mutations and, separately, BRCA1/2 mutations, have … Reveal Two Growth Phenotypes in Mouse Models of Down Syndrome . Am J Obstet Gynecol . 2023 Aug … members not participating in cascade genetic testing for Lynch syndrome . Scientific Reports , 10(1): 1-10, 2020. …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… group was the first to uncover the cause of Saul-Wilson syndrome and characterize the disorder. What are some key … Ferreira: We found that all patients with Saul-Wilson syndrome have the same genomic changes and similar clinical … heart. One that he knows particularly well is Saul-Wilson syndrome, a condition so rare that only four patients …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… but there are a few examples of inherited cancers like Lynch syndrome (also known as hereditary non-polyposis colorectal …
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.
… atrial fibrillation Germline genomic screening for Lynch syndrome in the US is approaching cost effectiveness  Read …
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
… – 4:30 p.m. . Seyma Eroglu Ankylosing spine-brachydactyly syndrome: A possible novel skeletal dysplasia 2010T Kendall … for Genetic Disorders Platform talk: Rescue of Proteus syndrome lethality in mice with prenatal miransertib …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… King discovering the BRCA1 gene. I also worked with Henry Lynch to find genes associated with colorectal cancer.  At …
Staff
Dr. Sara Chandros Hull is a co-deputy scientific director in the Office of the Scientific Director and the director of NHGRI's Bioethics Core.
… 23:7, 5-8. [ PubMed ] Spector-Bagdady K, Fernandez Lynch H, Bierer BE, Gelinas L, Hull SC , Magnus D, Meyer MN, … R, Spector-Bagdady K Sugarman J, Wilfond B, Fernandez Lynch H (2021) An Ethics Framework for Consolidating and …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered … MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer . Genet Med . …