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Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… safe for you and safe for your baby. MRI is routinely used in pregnancy to evaluate for fetal abnormalities or to answer … cost to you or to your insurance company to participate. In addition to free clinical evaluations, we will cover the … asymptomatic person. I’ve already been diagnosed with cancer. Can I still participate? Yes. If you were diagnosed …
Educational Resources
A mutation is a change in a DNA sequence. Mutations can result from DNA copying mistakes made during cell division, exposure to ionizing radiation, exposure to chemicals called mutagens, or infection by viruses.
… Mutation … A mutation is a change in a DNA sequence. Mutations can result from DNA copying … DNA Sequence, Germ Line, Gene … A mutation is a change in the DNA sequence of an organism. Mutations can result from errors in DNA replication during cell division, exposure to mutagens …
News Release
NHGRI researchers have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer.
… to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer. Since 2012, Laura Koehly, … Research Branch at NHGRI and senior author of the study. In a recent study in the journal Public Health Genomics , the researchers …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease … funded by NHGRI or other NIH Institutes takes place in the petri dish and in nonhuman organisms such as mice or … This approach can help researchers determine if specific changes made to the genome contribute to the disease. It can …
News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
… gave them more detailed information. The paper, published in Genomics in Medicine , examines people's attitudes about receiving … that are associated with a heightened risk for breast cancer. Based on the American College of Medical Genetics and …
Event
Annual scientific lecture honoring NHGRI's founding scientific director, Jeffrey M. Trent, Ph.D.
… MIT and Harvard, will present the lecture, Perspectives on Cancer Precision Medicine . Dr. Golub is a world leader in using genomics tools to understand the basis of cancer. He … diseases. Golub is also the Charles A. Dana Investigator in Human Cancer Genetics at the Dana-Farber Cancer Institute …
Event
The National Human Genome Research Institute is hosting a seminar, "Genomics, Imaging and AI - three technologies that are changing biological research through to clinical practice," on January 10, 2023. Dr. Ewan Birney is the guest speaker.
… pitfalls to avoid. Request an Accommodation All times are in ET. … Lipsett Amphitheater … MD … 10 Center Dr, Bethesda, …
Talking Glossary
GMO (short for “genetically modified organism”) is a plant, animal or microbe in which one or more changes have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the characteristics of an organism.
… modified organism”) is a plant, animal or microbe in which one or more changes have been made to the genome, typically using … is a plant, animal or microbe in which one or more changes have been made to the genome, typically using …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… titles to view their respective videos. All times are in ET. Thursday, June 24 Scientific Session: Methylmalonic … Ph.D. 3:40 - 4:10 p.m. Testing All Possible Amino Acid Changes in the Homocystinuria Proteins CBS and MTHFR … defects in the propionyl-CoA and vitamin B12 (cobalamin) metabolic pathways. This meeting will bring together …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… and are at high risk for developing certain types of cancer, and mental disability. … WAGR syndrome is a rare … (W)ilms' Tumor, the most common form of kidney cancer in children. (A)niridia, some or complete absence of the … of genes on chromosome 11 (11p13). Most of the time the changes on chromosome 11p13 happen by chance when the egg or …