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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 Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- 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
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… a specialist at a major university hospital or academic medical center. Health care professionals in this type of … your doctor for such a referral. You can also help your medical team by keeping complete copies of your medical records and making them available to everyone on the …
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… a specialist at a major university hospital or academic medical center. Health care professionals in this type of … care providers by keeping complete copies of their child's medical records and making these available to everyone on the … and is trained to look for patterns in a family's medical history that offer clues for a diagnosis. A genetics …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… activities and interests. The ASDs include a variety of medical autism diagnoses, which vary in the severity of the … developmental pediatricians, pediatric neurologists or medical geneticists. The diagnosis of autism is made when … on development later in life. Treatment of autism involves medical and behavioral therapies to help children with …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… step. Sharing is SO important. #ACMGMtg17 #gcchat  Medical Geneticist @MedicalGenes To strong applause: WG … Institute of Dental Research from 1953 to 1955. … Solving Medical Mysteries … Related Content … Dr. William Gahl …
MINC
Use the resources to help you design an education program or policy for your setting.
… Slides Free Baptist of Miami: Understanding Genetics & Genomics Pdf Free Beaumont Health System: Family History … Successes and Challenges Poster Free OSF Saint Anthony Medical Center: Bulletin Pdf Free OSF Saint Anthony Medical Center: Call for Posters Flyer Free OSF Saint Anthony …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… have Marfan syndrome are treated by a multidisciplinary medical team that includes a geneticist, cardiologist, …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… born with serious organ defects and other life-threatening medical conditions, although most individuals with cri du … from a team made up of the parents, therapists, and medical and educational professionals to help the child … or lost. Balanced translocations usually do not cause any medical problems; however, they can become unbalanced as they …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… delays including mental disability. Sometimes these medical conditions are so severe they may cause death. … …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… hereditary. VCFS is characterized by a combination of medical problems that vary from child to child. These medical problems include: cleft palate, or an opening in the …