Search Results
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and … skin. … Neurofibromatosis (NF) is a genetic neurological disorder that can affect the brain, spinal cord, nerves and … NF1. A physical examination by a doctor familiar with the disorder is usually performed. Doctors may use special lamps …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… patients, high levels of ammonia. Without treatment, the disorder can lead to coma and death in some cases. This … conditions. A gene called MMACHC is changed in this disorder. Affected patients have increased methylmalonic acid … the altered gene but do not show signs and symptoms of the disorder. Both boys and girls are equally affected. This …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have … treatment. Scientists discovered that people with the disorder have an overactive version of a protein called … have been diagnosed with disabling pansclerotic morphea, a disorder first described in the medical literature around 100 …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… threatening or they can worsen the progression of their disorder,” said Peter McGuire, M.B.B.Ch. , NHGRI … Around 1 in 5,000 people worldwide have a mitochondrial disorder. Examples of mitochondrial disorders are Leigh’s … threatening or they can worsen the progression of their disorder. We wanted to understand how immune cells differ in …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… Dr. Shchelochkov is interested in a rare metabolic disorder called propionic acidemia, which affects one in … much data into what really matters for the severity of the disorder,” says Dr. Shchelochkov. “This is the kind of …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… Autosomal Dominant Disorder … Autosomal dominance is a pattern of inheritance … the mutated gene (from one parent) is enough to cause the disorder. A child of a person affected by an autosomal … of a dominant allele. By contrast, an autosomal recessive disorder requires two copies of the mutated gene (one from …
Research Funding
Bioinformatics and computational biology are cross-cutting areas broadly relevant and fundamental across the entire spectrum of genomics.
… areas broadly relevant and fundamental across the entire spectrum of genomics. … Bioinformatics and computational … areas broadly relevant and fundamental across the entire spectrum of genomics. … Research Funding …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… … Methylmalonic Acidemia, Metabolic Disorders, Genetic Disorder, Inherited Disorder, Family Health History, Ancestry, Genetic Disease, …
Talking Glossary
Gender involves how a person identifies along a broad, fluid spectrum, rather than strictly by the sex assignment they received at birth.
… involves how a person identifies along a broad, fluid spectrum, rather than strictly by the sex assignment they … involves how a person identifies along a broad, fluid spectrum, rather than strictly by the sex assignment they … involves how a person identifies along a broad, fluid spectrum, rather than strictly by the sex assignment they …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… genetic basis that underlies Mendelian traits across the spectrum of Mendelian inheritance patterns. Further, they …