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Inherited Disease

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

The company provided updates on its newborn screening testing presence.

The firm it plans to offer from time to time units of its common stock, preferred stock, one or more debt securities, warrants, or rights to such securities in one or more series.

The national project has developed infrastructure for implementing genomics into clinical care and is now studying clinical utility and cost effectiveness.

The company is hoping to add outreach to make sure individuals who want counseling get it, and to better understand the reasons why others might not.

During an NIH meeting, researchers from four newborn sequencing research projects discussed results of their studies and future implications.   

The Wall Street Journal looks into FamilyTreeDNA's handling of genetic genealogy searches by law enforcement.

In a point-counterpoint in the Boston Globe, researchers discuss the potential of gene editing to prevent Lyme disease, but also the pitfalls of doing so.

MIT's Technology Review reports that researchers hope to develop a CRISPR-based pain therapy.

In Science this week: atlas of malaria parasites' gene expression across their life cycles, and more.

Aug
28
Sponsored by
Horizon Discovery

This webinar will provide an overview of alternatives to the popular Cas9 nuclease used in CRISPR gene editing.

Sep
16
Sponsored by
ArcherDX

This webinar will discuss a next-generation sequencing approach for detecting genomic mutations in hematologic maglignancies.

Sep
18
Sponsored by
Bionano Genomics

This webinar will outline how a team at Radboud University Medical Center is assessing ultra-long read optical mapping on the Bionano Saphyr system to replace classical cytogenetics approaches in routine testing and for the discovery of novel structural variants with potential scientific, prognostic, or therapeutic value that are missed by standard approaches.

Oct
24
Sponsored by
Sunquest

This webinar will tell the story of Versiti’s journey in transforming genetic testing from a manual to a digitized process. It will include detail on how the organization succeeded, pain points along the way, a novel approach to variant assessment, and future plans for the program.