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Educational Resources

In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene.

… Genetic Imprinting … In genomic imprinting the ability of a … upon the sex of the parent who passed on the gene. … Genetic Imprinting, DNA Sequence, Genes, Family Health …

Summit

International Summit in Human Genetics and Genomics

This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.

… countries address their public health challenges in genetic diseases. This will ultimately help build healthier … medicine worldwide, as it provided new insights into the genetic contributions to disease. Many scientists and … conditions on the world’s most vulnerable populations. … Genetic disorders, both monogenic and polygenic, contribute …

Jobs at NHGRI

Program Director of Laboratory Genetics and Genomics Fellowship and Director of Education

NHGRI is seeking applicants for the position of Program Director (PD) of Laboratory Genetics and Genomics (LGG) Fellowship & Director of Genetics Education (DGE), which plays a critical role in leading and overseeing all aspects of our ACGME-accredited programs.

… and certification; (3) work closely with clinicians, genetic counselors, staff scientists, and others to advance … and consultations to enhance their understanding of genetic factors in various disease processes and empower them … manage patients and participants with potential genetic involvement. For PhD candidates with ABMGG Board …

Genetic Disorders

About Achondroplasia

Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.

… births. … Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein … or in individuals who do not have the typical symptoms, genetic testing can be used to identify a mutation in the FGFR3 gene. Genetic testing can identify mutations in 99 percent of …

EDUCATION

Talking Glossary of Genomic and Genetic Terms

The Talking Glossary features more than 250 common genetic terms pronounced and explained in an easy-to-understand way by leading scientists and professionals at the National Human Genome Research Institute.

… Loading... … Talking Glossary of Genomic and Genetic Terms … The Talking Glossary features more than 250 common genetic terms pronounced and explained in an … … The Talking Glossary features more than 250 common genetic terms pronounced and explained in an …

Research Training

Medical Biochemical Genetics Fellowship

A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.

… Mitochondrial diseases, metabolic disorders and cardio-genetic diseases Carlos Ferreira, M.D. Skeletal dysplasias, … Melissa Merideth, M.D., MPH Gynecologic aspects of genetic and metabolic diseases Drew Michael, Ph.D. Molecular … Program, Training Programs, Physicians, Metabolic Genetic Disorders, Rare Genetic Disorders, Newborn Screening …

The Genomics Landscape

NHGRI medical genetics training programs provide an array of education opportunities

… in which NHGRI is centrally involved, such as the Genetic Counseling Training Program that is collaboratively … physicians to diagnose, manage, and counsel patients with genetic disorders. The program exposes its trainees to genetic conditions that range from common to ultra-rare, …

News Release

A New Look at the Origin of the Sickle Allele

Researchers used whole genome sequence data to investigate the origin of the mutation that causes "sickling" of red blood cells.

… genome sequence data to investigate the origin of the mutation that causes sickling of red blood cells, which … consequences in individuals that have two copies of the mutation. … Resolving a 40-Year-Old Debate Five haplotypes … wet period of the Sahara. 3. We identified a new set of 27 genetic variants inherited with the sickle allele that may …

News Release

Facial recognition software helps diagnose rare genetic disease

NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.

… used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … … . "Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations." A young boy … Content … Facial recognition software helps diagnose rare genetic disease … NHGRI researchers have successfully used …

Healthcare Provider Genomics Education Resource

Direct-to-Consumer Genetic Testing FAQ for Healthcare Professionals

An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.

… Direct-to-Consumer Genetic Testing for Healthcare Professionals What is direct-to-consumer genetic testing? Direct-to-consumer genetic tests (DTC-GT) … Fan, H. & Chu, J.-Y. A brief review of short tandem repeat mutation. Genomics Proteomics Bioinformatics 5, 7–14 (2007). …