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Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… There is no cost to you, the participant. NIH will cover screening and blood draw costs. In addition, we will provide … interested, one of our team members will call you to take screening information and to explain details of the study and …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… with the goal of advancing noninvasive prenatal DNA screening and diagnosis and investigating the fetal … prenatal testing (NIPT) - has revolutionized prenatal screening and diagnosis for fetal chromosome abnormalities. … lower false positive rates (FPRs). Due to the improved screening test performance for the common autosomal …
Media Advisory
On Monday, June 24, 2019, Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program investigators will present genomic research findings on implications for health and care of newborns during a public webinar session from 1:30 - 5:15 p.m Eastern.
… can genomic sequencing replicate or augment known newborn screening results? What knowledge could genomic sequencing …
Research Funding
The Division of Genomic Medicine promotes the NHGRI's efforts to advance the application of genomics to medical science and clinical care.
… 12-13, 2024 Genomic Medicine XV: Genomics and Population Screening November 8-9, 2023 Genomic Medicine XIV: Genomic … Expiration Date: February 12, 2025 2024 Population Genomic Screening in Primary Care Cooperative Agreement (U01 - … 2024 Expiration Date: December 03, 2024 Population Genomic Screening in Primary Care Cooperative Agreement (U01 - …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… diseases, by collecting and sharing standardized, high-quality clinical and laboratory data including … and targeted biomarker analyses, and a new Model Organisms Screening Center increasing the zebrafish modeling capacity … Research Cores (genomic sequencing, model organisms screening center, metabolomic and proteomic analysis, etc.) …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Petcharat Leoyklang Cell-based functional assays for screening of drug candidates for Free Sialic Acid Storage …
News Release
NIH Center for Research on Genomics and Global Health is participating in the H3Africa Consortium's effort to develop an African-specific genotyping array.
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… nerve cells. Dr. Tifft is also working to improve genetic screening tests for newborns. Current genetic screening programs detect up to around 70 conditions, … — like GM1 gangliosidosis — are not included in the screening process. With an earlier diagnosis and new …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… is born with MMA, which is now detected by routine newborn screening. Despite current treatments, the disorder can cause … patients with isolated MMA. CblC patients - who also have high levels of methymalonic acid and homocysteine in their … patients. In addition, these medical foods' relatively high leucine content may block methionine and other amino …
Leadership Initiatives
The History of Genomics Program collects and organizes historic materials related to the field of genomics and NHGRI as an organization.
… 4, 2022  Roundtable discussion: "Does genetic and genomic screening keep open the door to eugenics?" May 25, 2022  The …