Search Results
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… Series is designed to facilitate clinical research in the rare disease space with a focus on regulatory medicine and … Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory … Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Duane syndrome is a rare, congenital eye movement disorder. … Duane syndrome (DS) … Duane's Retraction Syndrome - Yahoo! Groups Genetics and Rare Diseases Information Center Finding Reliable Health …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome is a rare genetic condition caused by a deletion of a group of … of cancer, and mental disability. … WAGR syndrome is a rare genetic condition that can affect both boys and girls. … Tumor Study National Eye Institute (NEI) Genetics and Rare Diseases Information Center Finding Reliable Health …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… disease pathophysiology, genetics and treatments for rare inborn metabolic errors. We will also review the … disease pathophysiology, genetics and treatments for rare inborn metabolic errors. … A joint NHGRI-NCATS hosted … disease pathophysiology, genetics and treatments for rare inborn metabolic errors. … Event …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and at the National Human Genome Research … been identified for ~85% of genes associated with human diseases. Therefore, when a candidate gene for a disease or … Human Genome Research Institute. … Raman Sood, zebrafish, rare diseases, common diseases, genetic disease, animal …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… Genomics includes the scientific study of complex diseases such as heart disease, asthma, diabetes, and cancer … heart and other physical problems in children who have rare metabolic conditions, or to treat children with certain … Genomics, Inheritance, Ancestry, Genetic Disease, Rare Disease, Cloning, Gene Therapy … Genetics refers to 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.
… will sometimes say that a child has an "undiagnosed rare condition" or an "undiagnosed genetic condition" when … years, and occasionally may never happen, especially with rare conditions. In addition, some experts say that between … because there usually are so few cases of specific rare diseases, there is often not a doctor who has seen many (or …
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… sometimes have to say that a person has an "undiagnosed rare condition" or an "undiagnosed genetic condition" when … years, and occasionally may never happen, especially with rare conditions. This can be very difficult for the … because there usually are so few cases of specific rare diseases, there is often not a doctor who has seen many (or …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… suggests sequencing all 24 chromosomes to uncover other, rare disorders in pregnancy. Image Credit: Getty Images.  … samples were deemed abnormal, 60 of which contained a rare trisomy. Trisomy 7 was observed most frequently in both … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… Dr. Huizing investigates rare human genetic disorders and associated intracellular … Dr. Huizing also studies other sialic acid-related diseases, including sialuria, a progressive disease in which … (HPS), Chediak-Higashi syndrome, and Griscelli syndrome. A rare inherited disorder that has been identified in about 400 …