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rare disease

The partnership stands to accelerate the Utah Genome Project, which aims to discover new disease-causing genes and advance tests by studying large families.

The investment, which will be paid out over the course of five years, comes in part from industry sources.

Spot for Information

Families and patients coping with very rare genetic diseases have a new website where they can seek information and, perhaps, a sense of community, NPR reports.

Cyclica will soon begin testing a commercial version of its services software this summer ahead of a full launch planned for next year.

The partners will generate and analyze disease-specific gene expression data to identify likely drug candidates for rare skin diseases.

The firm and the cancer center will work together to use genome information-based precision medicine for cancer research.

Envision offers commercial whole-genome sequencing and analysis services to hospitals and clinical labs interested in using WGS in clinical diagnostics.

Icon will use its data management capabilities and clinical trials expertise to validate clinical data from the 70,000 participating patients and their families.  

An autosomal dominant form of vibratory urticaria has been linked to a missense mutation in the ADGRE2 gene that appears to affect mast cell function and inflammation.

A French drugmaker aims to develop an affordable treatment for Charcot-Marie-Tooth, Stat News reports.

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A New Zealand minister says the country's genetic modification laws need to be re-examined to help combat climate change, the New Zealand Herald reports.

A new analysis finds some cancers receive more nonprofit dollars than others.

An Australian mother's conviction in the deaths of her children may be re-examined after finding that two of the children carried a cardiac arrhythmia-linked gene variant.

In Science this week: comparative analysis of sex differences in mammal gene expression, and more.