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New research provides a better understanding of some of the genetic and cellular changes in pathways and processes involved in Autism Spectrum Disorder.
… to uncover dozens of genes that heighten the risk for autism. Joseph Buxbaum, Ph.D., Icahn School of Medicine at … genes that are likely to contribute to the risk for autism spectrum disorder (ASD) - a jump from the nine genes implicated in …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… Autism represents a broad group of developmental disorders … and interests. … Autism - or more precisely the autism spectrum disorders (ASDs) - represent a broad group of … severity of the individual symptoms and include autistic disorder (sometimes called classical autism), Asperger's …
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, … communication problems, and repetitive behaviors. … Autism Spectrum Disorders, Asperger Syndrome, Rett Syndrome, ASD, …
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
… Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their … Deficit Hyperactivity Disorder, ADHD, Attention Span, Autism, Neurological Disorder, Genetic Disorder, Genetic …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood … classic PKU include seizures, developmental delay, and autism. Boys and girls who have classic PKU may also have … PKU, Moderate PKU, Mild PKU, Seizures, Develpmental Delay, Autism, Eczema, Hyperphenylalaninemia … Phenylketonuria is an …
Talking Glossary
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders.
… Autosomal Recessive Disorder … Autosomal recessive is a pattern of inheritance … gene (one from each parent) are required to cause the disorder. In a family where both parents are carriers and do … and have the disease. By contrast, an autosomal dominant disorder requires only a single copy of the mutated gene from …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… only and is by no means comprehensive. … A genetic disorder is a disease caused in whole or in part by a change … can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Duane syndrome is a rare, congenital eye movement disorder. … Duane syndrome (DS) is a miswiring of the eye … Syndrome. In 70 percent of DS cases, this is the only disorder the individual has. However, other conditions and … … Duane syndrome is a rare, congenital eye movement disorder. … Duane Syndrome, DS, Eye Disorder, Congenital …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between … an idiopathic (of unknown cause), chronic inflammatory disorder of the bowel, involves any region of the … Disease … Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… Achondroplasia is a disorder of bone growth. It is the most common form of … inherited? … About Achondroplasia … Achondroplasia is a disorder of bone growth and the most common form of … Disorders, FGFR3 Gene, Gene Mutation … Achondroplasia is a disorder of bone growth and the most common form of …