Genetics

Scientists discover gene behind rare disorders

Scientists at the Montreal Neurological Institute and Hospital – The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders.

Genetics

New findings on protein misfolding

Misfolded proteins can cause various neurodegenerative diseases such as spinocerebellar ataxias (SCAs) or Huntington's disease, which are characterized by a progressive loss of neurons in the brain. Researchers of the Max ...

Medications

Tafamidis: Approval denotes proven added benefit

Tafamidis meglumine (trade name: Vyndaqel) was approved in November 2011 for the treatment of transthyretin amyloidosis in adults. This rare disorder ("orphan disease") is caused by a defective gene and is associated with ...

Genetics

Too much protein HUWE1 causes intellectual disability

Two to three percent of the children are born with an intellectual disability. Possibly by a genetic defect, but in 80% of these cases, we do not know – yet - which genes are responsible. VIB researchers at KU Leuven show ...

Genetics

Vitamin B12 deficiency: Tracking the genetic causes

Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, ...

Psychology & Psychiatry

Psychopaths get a break from biology

A University of Utah survey of judges in 19 states found that if a convicted criminal is a psychopath, judges consider it an aggravating factor in sentencing, but if judges also hear biological explanations for the disorder, ...

Autism spectrum disorders

Study shows gene defect's role in autism-like behavior

Scientists affiliated with the UC Davis MIND Institute have discovered how a defective gene causes brain changes that lead to the atypical social behavior characteristic of autism. The research offers a potential target for ...

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