Skip to main content
Premium Trial:

Request an Annual Quote

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

UK Team Presents Genetic, Epigenetic Sequencing Method

Using enzymatic DNA preparation steps, researchers in Nature Biotechnology develop a strategy for sequencing DNA, along with 5-methylcytosine and 5-hydroxymethylcytosine, on existing sequencers.

DNA Biobank Developed for French Kidney Donors, Recipients

The KiT-GENIE biobank described in the European Journal of Human Genetics contains DNA samples, genotyping profiles, immune patterns, and clinical features for thousands of kidney donors or transplant recipients in Nantes, France.

Cardiometabolic Disease May Have Distinct Associations With Microbial Metabolites in Blood, Gut

By analyzing gut microbes in combination with related metabolites in feces and blood, researchers in Nature Communications found distinct cardiometabolic disease relationships at each site.

Study Reveals New Details About Genetics of Major Cause of Female Infertility

Researchers in Nature Medicine conducted a whole-exome sequencing study of mote than a thousand patients with premature ovarian insufficiency.