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Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… affect facial features, including closely spaced eyes, small head size, and sometimes clefts of the lip and roof of … affect facial features, including closely spaced eyes, small head size, and sometimes clefts of the lip and roof of … , another facial anomaly, is characterized by a small, flattened nose with a single nostril situated below …
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… approaches have excellent spatial resolution, can detect small amounts of protein, and can be used in intact tissues . … approaches ha ve the potential to detect and quantify very small amounts of protein and proteoforms, and to approach the … efforts in these areas will be encouraged via the Small Business Program of NHGRI . Mechanism s of Suppor t …
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… $2M for Phase II • Seek sign-on from other ICs • NHGRI is small player in proteomics –1-2% of NIH 7 Mechanisms and …
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.
… being developed, such as gene therapy and the use of small molecules. By improving our understanding of these disorders … with skeletal disorders, we hope to better understand molecules and pathways that influence skeletal growth and …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… much DNA can be packed into a cell’s nucleus, which is so small it can only be seen with a specialized microscope. The … … Not entirely. Genomes are complicated, and while a small number of your traits are mainly controlled by one …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… of Gaucher disease. Researchers then tested a small molecule compound on the damaged cells, which resulted … correction of the cell malfunction. They identified the small molecule compound through high-throughput screening, which tests hundreds of thousands of small molecule chemicals concurrently in order to find …
Fact Sheet
Genomic research has been central to understanding and combating the SARS-CoV-2 (COVID-19) pandemic.
…  Primers attach to the end of these strands. Primers are small pieces of DNA designed to only connect to a genetic … in research and clinical practices to amplify, or copy, small segments of genetic material. PCR is sometimes called …
News Release
Researchers funded by NHGRI’s Genome Technology Program include a wide range of investigators with a variety of scientific expertise.
… methods help researchers analyze long nucleic acid molecules (1,000 nucleotides or more in length), a technique … threading strands of DNA or RNA nucleotides through small pores within a membrane, generating changes in electric … that can be used to detect their location. The beads are small, around the size of a single cell. Researchers can put …
Media Advisory
NHGRI hosts a Reddit AMA with Jennifer Doudna, Ph.D., and her research group.
… is a customizable tool that lets scientists cut and insert small pieces of DNA at precise areas along a DNA strand. This … is a customizable tool that lets scientists cut and insert small pieces of DNA at precise areas along a DNA strand. Who: …
News Release
Funding to advance understanding of RNA biology and development of RNA-based technologies
… Amherst, will focus on synthesizing long RNA molecules using a microfluidics platform, which consists of … which fluids are moved or stored. Scientists use long RNA molecules to probe genomic pathways and develop new drugs, … RNA to develop technologies and therapeutics such as small interfering RNA-based drugs and messenger RNA-based …