Skip to main content

Invitae, PCT Therapeutics, Genome Medical Partner to Offer Genetic Testing for Cerebral Palsy

NEW YORK – PTC Therapeutics, Genome Medical, and Invitae are partnering to offer genetic testing free of charge to patients in the US who have symptoms or a diagnosis of cerebral palsy with no evidence of brain injury, PTC said on Wednesday.

The initiative, called PTC Pinpoint Direct-CP Spectrum, is a genetic testing program that includes genetic counseling for eligible patients. Genome Medical will provide the counseling and administration and Invitae the genetic testing. The partners are hoping that testing through PTC Pinpoint Direct-CP Spectrum may help uncover a genetic cause for each person's symptoms and determine the right plan for the patient's care, including new and emerging treatment options. PTC focuses on developing new therapies for patients with rare disorders.

The company noted that this is an extension of an existing program, PTC Pinpoint, and that it is designed to further eliminate barriers of genetic testing for rare diseases.

"An umbrella diagnosis of a neurotransmitter disorder, such as cerebral palsy, can be extremely frustrating, especially for patients and caregivers who spend years with unexplained and underlying symptoms," Kylie O'Keefe, senior VP of global commercial and corporate strategy for PTC, said in a statement. "Up to one-third of cerebral palsy cases are driven by a genetic disorder, and some of those conditions may have transformative treatments currently available."

The Scan

Call to Look Again

More than a dozen researchers penned a letter in Science saying a previous investigation into the origin of SARS-CoV-2 did not give theories equal consideration.

Not Always Trusted

In a new poll, slightly more than half of US adults have a great deal or quite a lot of trust in the Centers for Disease Control and Prevention, the Hill reports.

Identified Decades Later

A genetic genealogy approach has identified "Christy Crystal Creek," the New York Times reports.

Science Papers Report on Splicing Enhancer, Point of Care Test for Sexual Transmitted Disease

In Science this week: a novel RNA structural element that acts as a splicing enhancer, and more.