A study published today in the New England Journal of Medicine is one of the first to show the life-changing benefits of genome-wide sequencing for children with certain kinds of intellectual disability. The work was led ...
May 25, 2016
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Fragile X syndrome (FXS) is the most common genetically inherited cause of intellectual disability in humans. New research shows how the hormone insulin—usually associated with diabetes—is involved in the daily activity ...
Apr 26, 2016
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One in 5,000 babies is born missing a small amount of genetic material from the tip of chromosome 1, a region called 1p36. Missing genes in the 1p36 region is a relatively common cause of intellectual disability. These children ...
Apr 14, 2016
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Pediatric researchers, using high-speed DNA sequencing tools, have identified a new syndrome that causes intellectual disability (ID). Drawing on knowledge of the causative gene mutation, the scientists' cell studies suggest ...
Apr 4, 2016
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Mitochondrial diseases - which affect 1 in 5,000 people - encompass a spectrum of disorders with an array of symptoms. Many patients with a mitochondrial disease experience neurological symptoms, including intellectual disability, ...
Mar 31, 2016
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Each gene variation has the potential to trigger specific defects. Among all genetic conditions, diseases recessive occur only when both the father and the mother are healthy carriers of the same defective gene which can ...
Mar 17, 2016
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Individuals with 2p15p16.1 microdeletion syndrome present with intellectual disability, microcephaly, delayed growth, dysmorphic craniofacial features, and digital abnormalities. The precise genetic region responsible for ...
Mar 17, 2016
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For the first time researchers have identified the lifelong changes in gene expression in the brains of people born with Down syndrome (DS).
Feb 25, 2016
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(HealthDay)—Mothers-to-be who are both obese and diabetic have a higher risk of giving birth to a child with autism than healthy women, a new study suggests.
Jan 29, 2016
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Scientists have pinpointed the cells that are likely to trigger common brain disorders, including Alzheimer's disease, Multiple Sclerosis and intellectual disabilities.
Jan 27, 2016
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