Search Results
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… emphasizes clinical research. Trainees also gain broad newborn screening experience at referral centers serving the … Medical System in Baltimore, MD, and the State of Maryland Newborn Screening Laboratory. … Three months of rotations …
Event
NSIGHT explores the implications, challenges and opportunities associated with the possible use of genomic sequence information during the newborn period.
… Related Resources … The Newborn Sequencing in Genomic Medicine and Public Health … possible use of genomic sequence information during the newborn period. The NSIGHT program consists of four sites: … possible use of genomic sequence information during the newborn period. … NSIGHT explores the implications, …
FAQ
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD. The following questions were answered during the meeting.
… the panel address the social structural ramifications of screening based on race and/or genetic ancestry? Recognizing … with self-identified race or background genetic ancestry, screening based on these factors will inevitably miss some … Ideally, everyone would have genomic data available and screening would be based on actual variant data rather than …
Educational Resources
Fact sheets explaining complex concepts in genomics research to a non-scientific audience.
… Microarray, DNA Sequencing, Epigenomics, Knockout Mice, Newborn Screening, Cost Of Sequencing A Human Genome, X Chromosome, Y …
Event
As the National Institutes of Health’s Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program comes to a close, the NSIGHT program holds a public webinar on June 24, 2019, during its final steering committee meeting.
… As the National Institutes of Health’s Newborn Sequencing in Genomic Medicine and Public Health … Public Session … As the National Institutes of Health’s Newborn Sequencing in Genomic Medicine and Public Health … meeting. … As the National Institutes of Health’s Newborn Sequencing in Genomic Medicine and Public Health …
Educational Resources
A birth defect is an abnormality present at birth.
… birth. … Congenital Defect, Genetic Mutation, Pregnancy, Newborn Testing … A birth defect (also called a congenital …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… At the NHGRI, Dr. Elkahloun started applying large scale screening methods to identify genes associated with … A, Lee MJ, Trepel J, Ferrer M, Pacak K. High-throughput screening for the identification of new therapeutic options … Scientific Core Facilities. … Abdel Elkahloun, large-scale screening methods, microarray technology, transcriptomics … …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… James Inglese directs the Assay Development and Screening Technology laboratory within the Division of … conference of the Society of Laboratory Automation and Screening. Inglese also serves as a scientific advisor to NIH-funded chemistry and screening centers, disease foundations, and international …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… Disease, Down Syndrome, Trisomy, Chromsomes, Prenatal Screening … Down syndrome (also called Trisomy 21) is a …
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