Search Results
Jobs at NHGRI
An NIH-funded postdoctoral position is available in the Childhood Complex Disease Genomics Section (CCDGS), a new section in the Center for Precision Health Research at NHGRI, under Dr. Neil Hanchard.
… An NIH-funded postdoctoral position is available in the Childhood Complex Disease Genomics Section (CCDGS), a new … Neil Hanchard . … The lab is studying a broad portfolio of childhood disorders - including severe undernutrition, sickle cell …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
… and laboratory interests focus on genetically-caused neuromuscular disorders of childhood. In his clinical practice, formerly at …
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.
… occuring before, during or after birth. … Brain images of children with ADHD may show differences compared to … with ADHD may also have learning disabilities, behavioral disorders or disorders of mood such as depression or anxiety. Problems …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… Raymond MacDougall … National Institutes of Health researchers have identified gene variants that … skin rashes and recurring strokes, beginning early in childhood. The team's discovery coincides with findings by an … beginning early in childhood. … Childhood stroke, rare disorders, blood vessel inflammation, CECR1 gene, deficiency …
News Release
A new study examines why some people grow out of childhood attention deficit hyperactivity disorder (ADHD), while others continue to have symptoms as adults.
… Genome Institute (NHGRI) examined why some people grow out of childhood attention deficit hyperactivity disorder (ADHD), … persisting from childhood partly lose the usual balance of connections between brain networks that control action and …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle … muscular atrophy (SMA) is the second leading cause of neuromuscular disease. It is usually inherited as an …
Talking Glossary
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders.
… Recessive Disorder … Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. … Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is …
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.
… Many human diseases have a genetic component. Some of these conditions are under investigation by researchers at … in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic … forms of neurofibromatosis. … Overview … List of Genetic Disorders … Featured Content … Genetic Disorders … A list of …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging. … … to be responsible for at least a half-dozen other genetic disorders, including two rare forms of muscular dystrophy. In …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… movement disorder. … Duane syndrome (DS) is a miswiring of the eye muscles, causing some eye muscles to contract when … binocular vision and compensate for improper turning of the eyes. In about 80 percent of cases of DS, only one eye … is a rare, congenital eye movement disorder. … Genetic Disorders …