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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center initially in 2008. The UDN was funded by the … are considered undiagnosed and are of interest to this clinical research program. Thirty to thirty-five percent of … dermatology, dentistry, neurology, cardiology and genetics, from other NIH research centers and institutes …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… pregnancy to evaluate for fetal abnormalities or to answer clinical questions. There are no data suggesting that … your insurance company to participate. In addition to free clinical evaluations, we will cover the cost of travel for … to travel to the NIH to participate? Traveling to the NIH Clinical Center is the most efficient way to be evaluated and …
Staff
Dr. Sagar is a staff clinician in the Neurobehavioral Clinical Research Section in Dr. Philip Shaw’s lab at the National Human Genome Research Institute.
… … Dr. Sagar is a staff clinician in the Neurobehavioral Clinical Research Section in Dr. Philip Shaw’s lab at the … in the neuroscience of mental health where she studied the genetics of autism spectrum disorders. Dr. Sagar worked as an … disorder. As a staff clinician in the Neurobehavioral Clinical Research Section, in Dr. Shaw’s lab, she is …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… researchers contend that there is a need for more rigorous clinical study of dietary management practices for patients … online August 13, 2015 and in the August issue of Genetics in Medicine , the researchers note that medical … In the MMA study, led by Irini Manoli, M.D., Ph.D., a clinical and biochemical geneticist in NHGRI's Organic Acid …
Clinical Research
This study explores how microbes, such as bacteria and fungi, contribute to a very common skin condition called Atopic Dermatitis, known as eczema.
… to severe AD (eczema) who are willing to travel to the NIH Clinical Center, Bethesda, Md. Healthy children without … diagnosis of moderate to severe AD will travel to the NIH Clinical Center. We will review your child's medical history … condition called Atopic Dermatitis, known as eczema. … Clinical Research …
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
… immune therapies in children with mitochondrial disease. … Clinical Research …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… Institute's (NHGRI) Medical Genomics and Metabolic Genetics Branch. But even with the information gathered … write computer code or work with vast amounts of data, the clinical value of using genomic data can be dampened. "We … tools to tackle big data." Through a mix of coursework, clinical exposure and mentoring, the two-year training …
Research at NHGRI
An international investigation into the genetics of severe acute malnutrition in children.
… Kampala, Uganda  University of Kinshasa Centre for Human Genetics Kinshasa, Democratic Republic of Congo  Botswana-Baylor Children’s Clinical Centre of Excellence  Gaborone, Botswana  Haydom … lead to ambiguous genetic results in both research and clinical testing. Upon completion of this study, and …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… of the Division of Intramural Research investigated the genetics using Illumina's Immunochip. This genotyping chip … - appears in the February 6, 2017 online version of Nature Genetics . Related Resources Dense genotyping of …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… their findings in the December 2017 issue of M olecular Genetics and Metabolism . … A single mutation in the Gaucher … author and a senior investigator in NHGRI's Medical Genetics Branch . "Understanding why the cross-bred mice get … mice impacts disease onset and course . Molecular Genetics and Metabolism ,Volume 122, Issue 4, 198-208, …