Study of rare genetic disorder that causes severe eyesight problems

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Study of rare genetic disorder that causes severe eyesight problems   Nagano prefecture is home to a group of people effected with a rare genetic neurodegenerative disorder called familial amyloid polyneuropathies. This disease impacts the gene encoding protein transthyretin which is produced in the liver and also eyes.

Whole genome sequencing can improve rare disease diagnosis   A research programme pioneering the use of whole genome sequencing in the NHS has diagnosed hundreds of patients and discovered new genetic causes of disease.         Research project launched to find new treatments for rare genetic diseases   The University Carlos III Madrid, Almirall, S.A. and the MEDINA Foundation have launched a project to find new treatments for recessive dystrophic epidermolysis bullosa and other genetic diseases caused by nonsense mutations.

Virginia Tech scientists reveal molecular cause underlying rare genetic disorder   Virginia Tech scientists have revealed how a nonfunctioning version of an ordinary gene impairs brain structure and function. The findings help explain a genetic form of microcephaly -- a condition where babies' heads are small and grow more slowly than their peers.       Study calls for better data framework to enhance rare disease diagnostic rates   A better framework for the reanalysis of genetic data, a game-changing process which could improve diagnostic rates by up to 32 per cent, was needed, a new study has found.       Umbilical cord blood safely and effectively treats children with rare genetic disorders   Researchers at UPMC Children's Hospital of Pittsburgh found that infusing umbilical cord blood - a readily available source of stem cells - safely and effectively treated 44 children born with various non-cancerous genetic disorders, including sickle cell, thalassemia, Hunter syndrome, Krabbe disease, metachromatic leukodystrophy (MLD) and an array of immune deficiencies.       New project launched to find novel treatments for rare genetic diseases   The University Carlos III Madrid, Almirall, S.A. and the MEDINA Foundation have launched a project to find new treatments for recessive dystrophic epidermolysis bullosa and other genetic diseases caused by nonsense mutations.

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