Autosomal News and Research

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Genome sequencing promises to identify rare mutations that give rise to autism

Genome sequencing promises to identify rare mutations that give rise to autism

CSHL scientists solve the mystery of why some infants born with grave syndrome

CSHL scientists solve the mystery of why some infants born with grave syndrome

Ambry Genetics introduces BRCA1 and BRCA2 analysis

Ambry Genetics introduces BRCA1 and BRCA2 analysis

Study: Gene mutations are associated with severe form of nearsightedness

Study: Gene mutations are associated with severe form of nearsightedness

New clinical algorithm to treat complex pediatric patients with ARPKD

New clinical algorithm to treat complex pediatric patients with ARPKD

FDA grants orphan-drug designation to XEN402 for treatment of pain associated with EM

FDA grants orphan-drug designation to XEN402 for treatment of pain associated with EM

FDA accepts Otsuka Pharmaceutical's tolvaptan NDA for priority review

FDA accepts Otsuka Pharmaceutical's tolvaptan NDA for priority review

Alnylam begins dosing in Phase I clinical trial with ALN-TTRsc for treatment of ATTR

Alnylam begins dosing in Phase I clinical trial with ALN-TTRsc for treatment of ATTR

Columbia University Medical Center, NewYork-Presbyterian Hospital present research works at AAN meeting

Columbia University Medical Center, NewYork-Presbyterian Hospital present research works at AAN meeting

Pivotal study of olesoxime in Spinal Muscular Atrophy receives positive interim review

Pivotal study of olesoxime in Spinal Muscular Atrophy receives positive interim review

Genetic testing strategy for familial high cholesterol questioned

Genetic testing strategy for familial high cholesterol questioned

Microarray analysis ‘best test for prenatal diagnosis’

Microarray analysis ‘best test for prenatal diagnosis’

Researchers discover new gene for susceptibility to Alzheimer's disease

Researchers discover new gene for susceptibility to Alzheimer's disease

Tolvaptan improves kidney health in polycystic kidney disease

Tolvaptan improves kidney health in polycystic kidney disease

Chromosome 22q11.2 deletion syndrome anxiety linked to poorer adaptive behaviors

Chromosome 22q11.2 deletion syndrome anxiety linked to poorer adaptive behaviors

Study highlights potential treatment that reduces kidney growth

Study highlights potential treatment that reduces kidney growth

Tolvaptan shows promise in treating autosomal dominant polycystic kidney disease

Tolvaptan shows promise in treating autosomal dominant polycystic kidney disease

Intellectual disability often results from genetic causes that are not inherited

Intellectual disability often results from genetic causes that are not inherited

Study finds four different subtypes of breast cancer

Study finds four different subtypes of breast cancer

Potential new drug to treat common inherited kidney disease

Potential new drug to treat common inherited kidney disease

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