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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 Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- 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
News Release
The Genetics/Genomics Competency Center (G2C2) resource has been expanded to include a new collection of resources for physicians.
… John Daniels … The Genetics/Genomics Competency Center (G2C2) - www.g-2-c-2.org … to bridge the gap," said Jean Jenkins, R.N., Ph.D., NHGRI clinical advisor, Genomic Healthcare Branch. "Genomic … Physicians' societies, including the American Society of Clinical Oncology, the American Academy of Pediatrics and the …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… muscular dystrophy is diagnosed in several ways. A clinical diagnosis may be made when a boy has progressive … for sure. For the remaining individuals, a combination of clinical findings, family history, blood creatine kinase … Medline Plus Duchenne and Becker muscular dystrophy Genetics HOME Reference The National Organization for Rare …
Genetic Disorders
Breast cancer is the second most common cancer in women after skin cancer.
… for the BRCA1 or BRCA2 gene, surveillance (mammography and clinical breast exams) can help detect the disease at an … breast cancer by almost 50 percent in women at high risk. Clinical trials are now under way to determine whether …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… factors into account: Whether or not the patient has the clinical symptoms common for the disease and whether the … Familial Mediterranean Fever National Library of Medicine Genetics Home Reference Familial Mediterranean Fever from … Fever, Familial MUMS National Parent-to-Parent Network Genetics and Rare Diseases Information Center Finding …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… can be diagnosed in infancy based on the characteristic clinical findings. When Down syndrome is suspected in a … normal course of development, causing the characteristic clinical features of Down syndrome. Some people who have Down … the condition. Additional Resources for Down Syndrome The Genetics Home Reference: Down Syndrome National Institute of …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… Deficiency Registry Alpha-1 antitrypsin deficiency - Genetics Home Reference Alpha-1 Antitrypsin Deficiency - …
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… health care team. … Participating in a research study or clinical trial can at times be another option when searching … with the goal of making a diagnosis. Alternatively, clinical trials or studies may be looking at the … the ClinicalTrials.gov identifier. … A consultation at a genetics service with a genetics professional can sometimes …
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… on the team. … Participating in a research study or clinical trial can at times be another option when searching … individuals to make a diagnosis. Alternatively, clinical trials or studies may be looking at the … the ClinicalTrials.gov identifier.  … A consultation at a genetics service with a genetics professional can sometimes …
MINC
Each clinical setting is unique. Strategies that will work in your environment can be used to design your interventions based on suggested options from the Champions.
… Each clinical setting is unique. Strategies that will work in your … students, teachers and the public can learn more about genetics and genomics! The day commemorates the completion of … … Resources … MINC: What strategies could be used? … Each clinical setting is unique. Strategies that will work in your …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… to 20,000 individuals. There is a wide variability in clinical symptoms in Marfan syndrome with the most notable … dissection). … The diagnosis of Marfan syndrome is a clinical diagnosis that is based on family history and the … Foundation NIAMS: Marfan Syndrome NHLBI: Marfan Syndrome Genetics Home Reference: Marfan Syndrome Genetic Testing …