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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. … bleeding problems, developmental delays, and malformations of the bones of the rib cage. Noonan syndrome is caused by changes in one … Symptoms of Noonan syndrome may include the following: A …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… Dr. Huizing investigates rare human genetic disorders and associated intracellular processes in order to … molecular function that underlie various genetic metabolic disorders, with the hope of developing treatments for these illnesses. Her research … , 69:1022-1032. 2001. [ PubMed ] Huizing M., Gahl W.A. Disorders of vesicles of lysosomal lineage: the …
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 of Americans who live to age 65 will have skin cancer at … Skin cancer is the most common type of cancer in the United States. An estimated 40 to 50 percent of Americans who live to age 65 will have skin cancer at …
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), inflammation of the lining surrounding the lungs , painful, swollen … disease worldwide. However, it is very common in people of Sephardic (non-Ashkenazi) Jewish, Armenian, Arab and …
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. …
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 … The porphyrias are a group of different diseases, each caused by a specific abnormality … and gives blood its red color. The essential functions of heme depend on its ability to bind oxygen. Heme is …
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 a mild loss of sensation in the limbs, fingers, and toes. … disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and …
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 a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye). RP causes the breakdown of photoreceptor cells …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body … Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body … neck and face that get worse over time. Signs and symptoms of myotonic dystrophy usually develop when a person is in his …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… in movement. The condition affects about 1 to 2 percent of people over the age of 60 years and the chance of developing PD increases as we age. Most people affected … protein called alpha-synuclein. If one studies the brains of people with PD after they die, one can see tiny little …