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- Multi-Omics for Health and Disease (Multi-Omics)1
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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.
… lead to clinical trials and decrease the burden of disease of our patients. … Soo: What are some difficulties in … When the first patient came to our clinic, we found their disease-causing genomic variant and looked for other patients … face. We have a mouse model that recapitulates the human disease, and we are in the process of running a clinical …
News Release
Experts discussed the gaps, challenges and opportunities in genomics at Genomic Medicine Meeting VIII: NHGRI's Genomic Medicine Portfolio, sponsored by NHGRI.
… genomics improves doctors' ability to diagnose and treat disease, but genomics must first be implemented into medical … in genes and the regions between the genes - in disease may go a long way in supporting the use of genomic … variants could help doctors evaluate individual disease risk, make better diagnoses and provide tailored treatments …
News Release
NHGRI has selected Charles Rotimi, Ph.D., as the next scientific director. In this role, he will lead the institute’s Intramural Research Program, which conducts basic and clinical research to enable a greater understanding of human disease and to develop better methods to detect, prevent and treat genetic disorders.
… research to enable a greater understanding of human disease and to develop better methods to detect, prevent and … of the NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch. He has designed and led major basic … and has greatly expanded genomics-based studies of human disease on the African continent. My vision for the NHGRI …
News Release
More research must be done to understand the interactions of ancient genes with modern environments.
… evolved over thousands of years to protect Africans from disease-causing pathogens. … Today, these same mutations can increase the risk of other diseases in Africans and people of African … with these genetic mutations have a higher risk of kidney disease. "Strides have been made but more research must be …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… in the genomic sequence of a person with a genetic disease, they sequenced the genomes of healthy participants, … genomic variants predicting that they would have a rare disease. Almost half of them indeed had the disease when researchers went back and carefully evaluated …
News Release
NIH has awarded grants of more than $28 million aimed at deciphering the language of how and when genes are turned on and off.
… to work together can be important for understanding disease," said Mike Pazin, Ph.D., a program director in the … the role of genomic differences in human health and disease." With these new grants, researchers will study gene … that are altered by these variants, which increase the risk for a disease. "Knowing the interconnections of these …
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… network is to better understand the genomic basis of disease and to tailor medical care to individual patients … to examine rare and common variants suspected to relate to disease risk and treatment effects," said Rongling Li, M.D., Ph.D., …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… and speakers echoed this theme throughout the workshop. Disease Variant Discovery The morning of day one focused on … surrounding the discovery of variants conferring risk for common disease. He said that one goal for the next five years should …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… genomic causes for only about half. Individually, a rare disease may affect only a handful of families. Collectively, … That's remarkable." Insights into the biology of disease Studying Mendelian conditions and characteristics has … taught the researchers a great deal about the biology of disease. "Knowing that there is a relationship between a gene …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… and phenotypes, gene variant influence, gene variants and disease conditions, gene variants and traits, Leslie …