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New gene identified responsible for Scoliosis and Bone Malformations biospectrumasia
November 06, 2017
Unique collaboration between Shriners Hospitals for Children - Canada, CHU Sainte-Justine and McGill University leads to a publication in The American Journal of Human Genetics.
Gene variant activity is notably variable between tissues worldpharmanews
August 18, 2017
New study found that both genetic and epigenetic differences between the maternal and paternal allele contributed to the observed tissue-specific activity patterns, uncovering the first complete allelome.
Alexion and Sema4 partner in rare disease diagnostics pharmatimes
August 14, 2017
Alexion has partnered with Sema4 to leverage their shared experience in data science and systems biology to accelerate rare disease diagnosis and therapeutic discovery.
£2m UK consortium to tackle gene therapy pharmatimes
August 14, 2017
A new consortium, led by Oxford BioMedica, will embark on a two-year, £2 million project focused on gene and cell therapy manufacturing.
UK Biobank releases genetic data on 0.5m people europeanpharmaceuticalreview
July 31, 2017
Genetic data on half a million people was made available for research last week by the UK Biobank study.
Sema4 announces the launch of CarrierCheck biospectrumasia
July 26, 2017
CarrierCheck stands apart in providing individuals with an online ordering pathway to a genetic test with easy-to-understand results that can reveal an individual's probability of being a carrier for any of the 67 hereditary conditions.
Gene variant protecting against Alzheimer’s decreases plasma beta-amyloid levels expressbpd
June 21, 2017
The METSIM data comprises 10,000 men living in the eastern part of Finland and the findings were published in Annals of Neurology
New NIH study reveals mutations in gene CABLES1 may lead to Cushing syndrome pharmaceutical-technology
June 06, 2017
A new study conducted by researchers at the National Institutes of Health (NIH) shows that mutations in the gene CABLES1 may lead to Cushing syndrome, a rare disorder that makes the human body produce excess stress hormone cortisol.

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