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News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… There are an estimated 7,300 such conditions, which are rare and usually inherited, and typically caused by a … the genomic causes for only about half. Individually, a rare disease may affect only a handful of families. … As a result, they have found genomic answers to disorders where, in many cases, none had existed previously, …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a … by mysterious conditions. On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise …
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 clinical trials in Mendelian disorders. The series will follow one of two formats: (1) a … Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… increased risk of developing Parkinson disease and related disorders. … Genetic Disorders …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… Autism Spectrum Disorders, Asperger Syndrome, Rett Syndrome, ASD, …
News Release
Researchers identified connections in the brain that children with attention deficit hyperactivity disorder (ADHD) may inherit from their parents.
… One of the most common childhood neuropsychiatric disorders, ADHD is highly heritable - meaning that genes play … Deficit Hyperactivity Disorder, ADHD, inherited brain disorders, Phillip Shaw Ph.D., Social and Behavioral Research …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Genetic Disorders …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. … and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. Genetic … of a disease or condition. Many genetic diseases are so rare that only a geneticist can provide the most complete and …
News Release
Researchers and families are investigating the heritability of attention-deficit hyperactivity disorder or ADHD.
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… performed on newborn babies to detect a wide variety of disorders. … performed on newborn babies to detect a wide variety of disorders. …