Search Results
Genetic Disorders
Colon cancer is a malignant tumor of the large intestine that affects both men and women.
… been identified in this APC gene. Individuals with this syndrome develop many polyps in their colon. People who … HNPCC (hereditary nonpolyposis colon cancer) also called Lynch Syndrome Individuals with an HNPCC gene mutation have … Familial adenomatous polyposis - Genetics Home Reference Lynch Syndrome - Genetics Home Reference Do You Know Tony? …
Health
Healthcare professionals determine whether individuals, other family members, or future generations may be at increased risk of developing particular conditions.
… and Neck Surgery  Utilizing family history to identify Lynch Syndrome Type of Case Study: Family History In collaboration …
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
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 … 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 …
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… DA. Heterozygous germline hCHK2 mutations in Li-Fraumeni Syndrome. Science, 286:2528-2531. 1999. [ PubMed ] Cantor S, … cancer cell lines. Nature, 413:311-316. 2001. [ PubMed ] *Lynch TJ, *Bell DW, *Sordella R, Gurubhagavatula S, Okimoto … RA, Brannigan BW, Harris PL, Driscoll DR, Fidias P, Lynch T, Sharma SV, Settleman J, and Haber DA. Irreversible …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… IDH1 mosaicism P237 Diagnosis of Cornelia de Lange Syndrome Through EPISign Whole Genome Methylation Assay: …
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. 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 . …