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For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for … has an "undiagnosed rare condition" or an "undiagnosed genetic condition" when they are unable to find a diagnosis … entitled "Studies of Children with Metabolic and Other Genetic Diseases" evaluates individuals of all ages (despite …
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 child has an "undiagnosed condition" when a physician is unable to find a diagnosis for … has an "undiagnosed rare condition" or an "undiagnosed genetic condition" when they are unable to find a diagnosis … entitled "Studies of Children with Metabolic and Other Genetic Diseases" evaluates individuals with known or …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… who are working with families with a known Mendelian condition or one newly described by a CMG, or others, submit … author Michael Bamshad, M.D., chief of the division of genetic medicine at the University of Washington and CMG … CMG. Digenic inheritance involves two inherited genetic changes that interact to cause a single disease. The …
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.
… 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. … Cri du …
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.
… Genetic professionals work as members of health care teams … and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. … geneticist will make the actual diagnosis of a disease or condition. Many genetic diseases are so rare that only a …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… Trimethylaminuria is a metabolic condition in which an individual is not able to convert … FMO3 gene. Trimethylaminuria may be caused by a variety of genetic changes to the FMO3 gene. Not all of the functions of … experience, researchers think that different genetic mutations in FMO3 can influence the symptoms of the …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 … may be expressed, and both versions contribute to the genetic trait. The M gene is the most common allele of the … - National Library of Medicine Alpha-1 Association Genetic Counseling Service Alpha-1 Advocacy Alliance Alpha …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… Genetic testing uses laboratory methods to look at your … you inherit from your mother and your father. … Genetic tests may be used to identify increased risks of … … Genetic Testing, Newborn Screening, Diagnosing A Genetic Condition, Genetic Disease … ​Genetic tests may be used to …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study is exploring the genetic factors that contribute to ADHD, with the hope of improving treatment for this condition in the future. … ADHD often appears to run in …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in … likely to develop the condition. Genetics: The Basics Our genetic material is stored in the center of every cell in our bodies (skin cells, hair cells, blood cells). This genetic material comes in individual units called genes. We …