Inherited Disease

News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.

The companies will work together to identify the genetic mutations that cause the rare genetic lysosomal storage disorder alpha mannosidosis.

The firm's assay measures the concentration of the wild type and mutant alleles of hFE protein at three different mutation sites from a person's blood sample.

The disease is an inherited form of muscular dystrophy characterized by a repeat expansion of 50 CTG trinucleotides or greater in the DMPK gene.

The firm believes its Parsortix cell separation system, so far used for oncology, can extract rare fetal cells from maternal blood to detect genetic disorders.

Through the Alnylam Act program, patients suspected of having the rare disease or with a family history of the illness will receive testing at no cost.

 Senator Lamar Alexander (R-Tenn.), who chairs the Senate health committee, will be retiring at the end of his term, Stat News reports.

UCSF researchers find that having two X chromosomes may contribute to women's longer lifespans, according to Discover's D-brief blog.

The Wall Street Journal reports on the US Centers for Disease Control and Prevention's use of genetic approaches to study foodborne illnesses.

In PNAS this week: immune cell profiling of wild baboons by social status, metabolomics profiling of esophageal tumors, and more.

Jan
31
Sponsored by
Roche

This webinar highlights the use of single-cell genomics to identify distinct cell types and states associated with enhanced immunity.