Detect Lysosomal Storage Diseases program reduces barriers to genetic diagnosis through sponsored testing for lysosomal storage disorders, including GM2 gangliosidosis
Behind the Seizure® program can help accelerate genetic epilepsy diagnosis in children experiencing unprovoked seizures
“Through both initiatives, we are supporting the rapid identification of patients with debilitating diseases, allowing them to gain access to earlier therapeutic interventions. For LSDs, there are more than 50 different disorders with overlapping symptoms, making misdiagnosis common,” said RA Session II, Taysha’s President, CEO and Founder. “Likewise, more than 50% of epilepsies have a genetic basis. When a patient presents with seizures, genetic testing may help identify more than 100 underlying, often rare conditions. We are proud to support these initiatives to help patients gain timely access to natural history studies, clinical trials, and ultimately disease-modifying therapies.”
Eligible individuals suspected of having an LSD or epilepsy will gain access to genetic testing and counseling at no charge through these programs. The Detect LSDs program will help identify individuals who are eligible for Taysha’s study evaluating TSHA-101 in patients with GM2 gangliosidosis, expected to enter the clinic later this year. The Behind the Seizure program will enable patient identification across Taysha’s broad pipeline of indications, some of which have an underlying seizure phenotype, and rapid enrollment into natural history studies and clinical trials.
“Increasing access to genetic testing can support earlier diagnosis of neurodegenerative diseases, which in turn enables clinicians to provide precision therapies sooner and better overall outcomes,” said
Additional details, as well as terms and conditions of the Detect LSDs program, can be found at https://www.invitae.com/en/detectLSDs/. To learn more about the Behind the Seizure program, please visit https://www.invitae.com/en/behindtheseizure/.
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