Genetics

Protein regulation linked to intellectual disability

Genetics researchers at the University of Adelaide have solved a 40-year mystery for a family beset by a rare intellectual disability – and they've discovered something new about the causes of intellectual disability in ...

Immunology

Researchers identify new genetic immune disorder

Researchers funded by the National Institutes of Health (NIH) have identified a new immune disorder—DOCK2 deficiency—named after the mutated gene responsible for the disease. An international team of collaborators studied ...

Genetics

Genetic defect underlying a rare disease identified

Researchers at MedUni Vienna have discovered the genetic cause of a rare disease characterized by life-threatening "liver crises" in early childhood and subsequent manifestation of neurological symptoms, such as neuropathy ...

Genetics

Faulty gene linked to condition in infants

(Medical Xpress)—Researchers at King's College London have for the first time identified a defective gene at the root of Vici syndrome, a rare inherited disorder which affects infants from birth, leading to impaired development ...

Neuroscience

How frontotemporal dementia changes the brain

Around 55 million people worldwide suffer from dementia such as Alzheimer's disease. Recently, the actor Bruce Willis was diagnosed with frontotemporal dementia, or FTD, a rare type of dementia that typically affects people ...

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