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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.
… be a physicist or a mathematician. During my last year of high school, I decided to pursue a career in medicine because … lives. In my home country of Paraguay, you go from high school directly to medical school. I have to say that I … with different physical manifestations. With advances in high-throughput DNA sequencing over the last decade, more …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… occupied the forefront of research innovation by using high-risk screens to identify major modifiers of primary … to identify candidate therapeutic compounds via high-throughput screens, its Therapeutics for Rare and Neglected … in establishment of a natural history study to identify screening criteria and biomarkers for use in gauging …
News Release
NHGRI researcher Dr. Julie Segre has been elected to the National Academy of Medicine, one of the highest honors in the fields of health and medicine.
… Ph.D., NHGRI Director.  Dr. Segre’s laboratory integrates high-throughput DNA-sequencing technologies, algorithm development …
News Release
The Genomics and Society: Expanding the ELSI Universe conference focused on issues arising from the ethical, legal and social implications of genomic research.
… From prenatal genetic screening to the genetic testing of women with family …
Staff
Dr. Lisa Helbling Chadwick is a deputy director in Division of Genome Sciences at the National Human Genome Research Institute. ​
… evaluation of candidate variants, and the development of high-throughput genomic technologies related to gene expression or …
Research at NHGRI
NHGRI researchers develop freely available software and analysis tools to help researchers around the world analyze and explore their genomic data.
… the design and selection of overgo probes optimized for high-throughput comparative mapping. SubmiRine A software package …
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… Using next-generation DNA sequencing, a fast and high-throughput method for sequencing nucleic acids (like DNA and … too much sugar circulating in the bloodstream. Prolonged high blood sugar levels can lead to heart disease, kidney …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… symposium titled, Genetic Epidemiology at Scale: High Throughput Genomics Linked to Large Scale HER Systems . … A 9. Danielle M. Karyadi: Whole exome sequencing in 75 high-risk families identifies eight previously unknown …
Research Funding
A list of funding opportunities in genomics research provided by NHGRI and the National Institutes of Health.
… 12, 2025  SBIR Solutions to Enable Population Genomic Screening (R43/R44 Clinical Trial Optional) PAR-24-263 …  Center for Inherited Disease Research (CIDR) High Throughput Sequencing and Genotyping Resource Access (X01 … Expiration Date: September 10, 2024  Announcing the High-Priority, Short-Term Project Award (R56) Notice of …
Archive
… High-throughput screening finds surprising properties for antioxidants …