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Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this … their vagina and womb are totally normal. In early childhood, girls who have Turner syndrome may have frequent … condition that alters development in females. … Genetic Disorders …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… is also used for the detection and characterization of some cancers and to monitor cancer therapy. … Cell-free …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… bleeding problems, developmental delays, and malformations of the bones of the rib cage. … Noonan syndrome is a disorder that … delays and malformations of the ribs. … Genetic Disorders …
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
… Genomics Coordinating Center Susanne May University of Washington University of Washington (UW) Mendelian … at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced … at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced …
Genetic Disorders
Skin cancer is the most common type of cancer in the United States.
… Skin cancer is the most common type of cancer in the United States. An estimated 40 to 50 percent … best line of defense. Protection should start early in childhood and continue throughout life. Suggested protections … most common type of cancer in the United States. … Genetic Disorders …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… an inherited disease, characterized by recurrent attacks of fever, inflammation of the abdominal lining (peritonitis), … In some patients, attacks begin in infancy or very early childhood, but 80 to 90 percent of patients experience their … painful, swollen joints, and ankle rash. … Genetic Disorders …
Staff
Dr. Sudre is an Associate Investigator in Dr. Philip Shaw's Neurobehavioral Clinical Research within the Social and Behavioral Research Branch
… different brain states. Previously, Dr. Sudre was part of the Human Rehab Neural Engineering Lab at the University … focus is on one of the most common neuropsychiatric disorders of childhood: attention deficit hyperactivity disorder (ADHD). …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… The porphyrias are a group of different diseases, each caused by a specific abnormality … difficult because the range of symptoms is common to many disorders and interpretation of the tests may be complex. A … include chest and abdominal pain, emotional and mental disorders, seizures and muscle weakness. These symptoms often …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and … Opens Door to Further Research In Inherited Neurological Disorders [News Release]) is implicated in CMT type 2D, a … forms of these diseases, as well as other neurological disorders. Because carpal tunnel syndrome affects the hands …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye). … Retinitis pigmentosa (RP) is the name given to … retina (the light-sensitive part of the eye). … Genetic Disorders …