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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.​ … They 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 … their behavior and pay attention to tasks. … 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 … the development of new treatments for rare and neglected disorders. The NIH Office of Rare Diseases Research (ORDR) …
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 …
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 …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Duane syndrome is a rare, congenital eye movement disorder. … Duane syndrome (DS) … Duane's Retraction Syndrome - Yahoo! Groups Genetics and Rare Diseases Information Center Finding Reliable Health … is a rare, congenital eye movement disorder. … Genetic Disorders
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.
… Institute (NHGRI). … 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 … … 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 …
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.   … samples were deemed abnormal, 60 of which contained a rare trisomy. Trisomy 7 was observed most frequently in both …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… researchers have identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring … role in revealing the genomic basis for an important rare disease," said Eric D. Green, M.D., Ph.D., director of … beginning early in childhood. ​ … Childhood stroke, rare disorders, blood vessel inflammation, CECR1 gene, deficiency …