Search Results
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… In fact, finding an underlying diagnosis for many conditions can be a very long and frustrating experience. A … and occasionally may never happen, especially with rare conditions. This can be very difficult for the individual and … This type of professional often has experience with rare conditions, and is trained to look for patterns in a family's …
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… In fact, finding an underlying diagnosis for many conditions can be a very long and frustrating experience. A … and occasionally may never happen, especially with rare conditions. In addition, some experts say that between 30 to … This type of professional often has experience with rare conditions and is trained to look for patterns in a family's …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… identifying the genomic underpinnings of as many Mendelian conditions as possible. … It's a huge challenge: There are an estimated 7,300 such conditions, which are rare and usually inherited, and … inroads in discovering genes underlying Mendelian conditions. In studying nearly 9,000 families, they have …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… and treating children with complex neuromuscular and neurogenetic conditions. His team uses next-generation genomic tools to … … Carsten Bonnemann, neuromuscular disorders of childhood, neurogenetic conditions, congenital myopathies … Carsten …
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… have now identified three health conditions for which people with SCT are at increased risk. … … review found little rigorous evidence for most medical conditions investigated in SCT," said Vence L. Bonham , Jr., … experts evaluated the association of SCT with 24 health conditions based on a review of scientific literature …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… than others and our likelihood of developing certain conditions. We have two copies of every gene: we inherit one … who have genetic disorders or may be at risk for inherited conditions. Genetic professionals can discuss the risks, …
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.
… serious organ defects and other life-threatening medical conditions, although most individuals with cri du chat …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… autosomal dominant manner. In autosomal dominant inherited conditions, a parent who carries an altered gene that causes …