Search Results
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."
… Sheena Faherty, Ph.D. … 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 … in Man ( www.omim.org ) is a cataloging of Mendelian disorders and can be searched by symptom or phenotype (3) …
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 …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… problems, and repetitive behaviors. … Autism Spectrum Disorders, Asperger Syndrome, Rett Syndrome, ASD, …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
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. … The diagnosis of Gaucher disease is based on … glucocerebroside cannot be adequately degraded. … Genetic Disorders …
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.
… 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.