genetic disorders

MCRI is planning to integrate its POSSUMweb database into FDNA's Face2Gene software, in order to enhance its library of genetic syndrome data and images.

Rainbow Genomics will offer exome-sequencing based screening and diagnostic tests developed by Baylor Genetics to patients in Asia.

Paralogs may compensate for a mutated gene in tissues other than the disease-affected ones, researchers from Ben-Gurion University of the Negev in Israel found.

Undiagnosed Disease Network researchers used exome sequencing to diagnose more than one-quarter of individuals previously denied clinical exome reimbursement.

UK regulators have given the clinic the green light to offer the service, the Guardian reports.

For New Skin

Technology Review writes that gene therapy might be able to help people with epidermolysis bullosa.

The approach, which uses 10x Genomics technology for haplotyping, requires neither mutation-specific assays nor DNA from affected family members.

The company launched an updated version of its Face2Gene software suite earlier this month at the American Society of Human Genetics annual meeting.

Fulcrum, a startup pharmaceutical company, is looking for druggable targets to regulate gene expression in genetic diseases where few treatment options exist. 

The partners will evaluate various established research solutions including a number of variant calling methods for potential clinical use.

Pages

New Mexico is re-doing its proposed science education standards after criticism, the Associated Press reports.

Agbio executives say gene editing will speed up breeding efforts, according to the Wall Street Journal.

La Trobe University's Jenny Graves has won the $250,000 Prime Minister's Prize for Science, the Guardian reports.

In Cell this week: post-treatment changes to melanoma genome, multi-omics analysis of muscle-invasive bladder cancer, and more.