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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 …
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, …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… Antiphospholipid Syndrome (APS) is a disorder characterized by elevated levels of multiple … antibody syndrome and sometimes Hughes syndrome, is a disorder characterized by elevated levels of multiple … APS. If the individual has no known underlying autoimmune disorder, the person is said to have primary APS. If the …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… severity of the individual symptoms and include autistic disorder (sometimes called classical autism), Asperger's … become the most commonly diagnosed childhood developmental disorder. According to the Centers for Disease Control … Of children being diagnosed now with an autism spectrum disorder, about half will have intellectual disabilities …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
… Fragile X Syndrome … Fragile X syndrome is a hereditary disorder affecting mostly males. … Hereditary, X Chromosome, Y Chromosome, Genetic Disorder, Mutation … Fragile X syndrome is a genetic … of the X chromosome). … Fragile X syndrome is a hereditary disorder affecting mostly males. … Educational Resources …
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… as well as other birth defects. Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the … have somewhat divided, causes an intermediate form of the disorder. Lobar, in which there is considerable evidence of … are helpful. … The prognosis for individuals with the disorder depends on the severity of the brain and facial …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… Autism … Autism is a developmental brain disorder characterized by impaired social interactions, … Asperger Syndrome, Rett Syndrome, ASD, Developmental Disorder … Autism is a condition related to brain development … and to varying degrees. … Autism is a developmental brain disorder characterized by impaired social interactions, …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called … … Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called … are so mild that they never have any problems from the disorder. Type 2 and 3 do affect the nervous system. Type 2 …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… Sequencing … Related Content … NIH team discovers genetic disorder causing strokes and vascular inflammation in …