NEW YORK (GenomeWeb News) – a newly formed foundation said this week that it is working with researchers at the National Center for Genome Resources on a multiplex test for rare genetic diseases.

The Beyond Batten Disease Research Foundation, which was recently founded in Texas and is supporting research efforts into finding a cure for the rare childhood disease, said that it expects an initial screening test for around 75 diseases to be ready in the fall of this year. The foundation did not say what technologies will be employed in developing the test.

Get the full story

This story is free
for registered users

Registering provides access to this and other free content.

Register now.

Already have an account?
Login Now.

In Science this week: caution urged in use of gene drives, and more.

NIH's Sally Rockey examines the tapped and untapped potential of the NIH peer reviewer pool.

PLOS Biology has asked researchers how they envision the future of genetics and genomics.

Representative Lamar Smith brings back a provision to require the National Science Foundation to certify that each study it funds is "in the national interest."

Sep
17
Sponsored by
Omicia

This online seminar will provide examples of how commercial and hospital-affiliated clinical labs are successfully developing and deploying high-throughput next-generation sequencing-based testing services for genetic diseases. 

Oct
15
Sponsored by
Parabase

This webinar will discuss the benefits of a rapid targeted next-generation sequencing (TNGS) panel, using dried blood spots, for second-tier newborn metabolic and hearing loss screening and its immediate utility for high-risk diagnostic testing in the neonatal intensive care unit.