Search Results
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Research Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also provides insights into more common disorders.​ … are underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part …
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.
… with ADHD may also have learning disabilities, behavioral disorders or disorders of mood such as depression or anxiety. Problems … Genetic Disorders …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that … United States at any given time. There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 million to 30 million … There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated …
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.
… colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as … leading to reduced mobility. Because the disorder is so rare, its genetic cause had not been identified until now. … to be a potential treatment for other inflammatory skin disorders or disorders related to tissue scarring, whether it …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Duane syndrome is a rare, congenital eye movement disorder. … Duane's Retraction Syndrome - Yahoo! Groups Genetics and Rare Diseases Information Center Finding Reliable Health … Duane syndrome is a rare, congenital eye movement disorder. … Duane syndrome is a rare, congenital eye movement disorder. …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… Genomics is ending diagnostic odysseys for patients with rare diseases. … Did you know that there are truly rare people born all the time? Around 350 million people on earth are living with rare disorders - this is a disorder or condition with fewer than … 1 protein (which the gene encodes). His disorder was so rare that mutations in this gene had never been documented, …
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.
… This list of genetic, orphan and rare diseases is provided for informational purposes only and … in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic … List of Genetic Disorders … Genetic Disorders … A list of genetic, orphan and rare diseases under investigation by researchers at or …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases … The Genetic and Rare Diseases Information Center (GARD)  was created in 2002 … Genome Research Institute (NHGRI) and the Division of Rare Diseases Research Innovation (DRDRI) at the National …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities … suggests sequencing all 24 chromosomes to uncover other, rare disorders in pregnancy. Image Credit: Getty Images.  The … Sequencing all 24 human chromosomes uncovers rare disorders …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice to … inherit two mutant copies of GBA1 have Gaucher disease, a rare lipid storage disorder characterized by enlargement of … Blood Institute, the National Institute of Neurological Disorders and Stroke, the University of Florida, Northwestern …