Close Menu

genetic disorders

Investigators have identified a form of compound inheritance for congenital scoliosis that involves null mutations and hypomorphic alleles of a particular gene.

NHGRI will provide the Centers for Common Disease Genomics with $60 million and the Centers for Mendelian Genomics with $10 million.

Bioinformatics firm Congenica today announced it has received £1 million ($1.6 million) from Cambridge Innovation Capital to scale up its Sapientia platform.

This story has been updated to clarify that the Parabase test's correct diagnosis rate when phenotype was considered was specifically 32 out of 34 samples and to add additional comments by the company.

NEW YORK (GenomeWeb) — After more than three years offering clinical whole exome sequencing for pediatric and adult patients suspected of having rare genetic disorders, clinicians from Columbia University Medical Center have concluded that the approach is a feasible, useful, and timely option for

NEW YORK (GenomeWeb News) – A bipartisan pair of lawmakers in the US House of Representatives have introduced the Newborn Screening Saves Lives Reauthorization Act, which has several provisions to help guide and support disease-risk screening programs across the US.

NEW YORK (GenomeWeb News) – The committee that advises the US Department of Health and Human Services on matters related to newborn screening for genetic diseases, and sets the newborn screening standards followed by many states, is set to expire in April and advocates are pressing to get it reau

This is the fourth in a series of profiles of projects awarded NHGRI grants to develop policy guidelines on how and when to disclose secondary information to the subjects of genomic research studies.

This is the second in a series of profiles of projects awarded NHGRI grants to develop policy guidelines on how and when to disclose secondary information to the subjects of genomic research studies.

Pages

Rady Children's Institute for Genomic Medicine and Deloitte are looking into the use of drones to transport samples for testing. 

Direct-to-consumer genetic testing firm 23andMe is laying off about 100 people.

Researchers from Northwestern University examined dust for antibiotic-resistance genes, New Scientist reports. 

In Science this week: researchers present a computational method for predicting cellular differentiation state from single-cell RNA sequencing data, and more.