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The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… entitled Genomic Medicine XV: Genomics and Population Screening . The meeting discussed the current state of … comprehensive, and authoritative, thereby providing high scientific quality and a professional standard of … These STEAM Day attendees included elementary, middle, and high school students as well as the students’ parents and …
The Genomics Landscape
In the May 5, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., pays tribute to one of NHGRI’s founding staff members and current leaders, Bettie Graham, Ph.D., as she reached a truly remarkable milestone: 50 years of service in the federal government.
… convene an expert panel entitled "Does genetic and genomic screening keep open the door to eugenics?" on May 25 to … scientific racism in the context of genetic and genomic screening technologies. Emerging genome-sequencing … individual and public health benefits of such genomic screening are viewed positively by some, scholars have long …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… disability and other serious problems. Women who have high levels of phenylalanine during pregnancy are at high risk for having babies born with mental disability, … in 1 in 10,000 to 1 in 15,000 newborn babies. Newborn screening has been used to detect PKU since the 1960's. As a …
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 …
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 …
Staff
Dr. Minear is a program director in NHGRI's Division of Genomic Medicine.
… grants and contracts comprising the Hunter Kelly Newborn Screening Research Program and was a Project Scientist for … … Minear MA , Phillips MN, Kau A, Parisi MA. Newborn screening research sponsored by the NIH: From diagnostic … Allyse MA. Informed decision-making about prenatal cfDNA screening: An assessment of written materials . Ethics Med …
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 - …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
…  Obtain a family history to assist with early screening detection of genetic conditions or health habits …  Identify risk for asymptomatic individuals with high risk for hereditary cancers.  Advocate for … and email subscriptions. GenomeEd : a repository of high-quality genomic resources for interprofessional members …
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 …
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.) …