Neurogene Sponsors Invitae’s No-Charge Genetic Testing Program for Suspected Lysosomal Disease Patients

According to a press release from American biotechnology company Neurogene, the Company has kicked off a sponsorship of Invitae Corporation’s “Detect Lysosomal Storage Diseases” program, which will offer genetic testing and counseling to suspected lysosomal storage disease patients at no charge.

About Lysosomal Storage Diseases

Lysosomes are organelles found in almost all animal cells. They contain digestive enzymes, helping the cell break down certain large molecules that can enter the cell but otherwise might not be able to leave it.

Lysosomal storage diseases (LSDs) are a group of inherited metabolic conditions characterized by the dysfunction of lysosomes, resulting in the buildup of toxic or otherwise harmful molecules in cells. There are almost 50 lysosomal storage diseases. Because there are so many types of lysosomal storage disease, the symptoms and prognoses thereof are highly diverse. However, due to the accumulative nature of these conditions, they are typically progressive — symptoms may not be apparent for years after birth. Many of these conditions are associated with high morbidity and mortality rates.

LSDs are caused by deficiencies of certain enzymes found in the lysosomes of healthy individuals. The absence of these enzymes leaves the cell unable to process their target molecule. Fabry disease, mucopolysaccharidosis, and Niemann-Pick Disease are just a few examples of lysosomal storage diseases.

“Detect Lysosomal Storage Diseases” Program

Invitae’s Lysosomal Storage Diseases genetic testing program offers sponsored genetic testing and counseling to suspected LSD patients. Charitable contributions to the program like Neurogene’s allow for the program to stay fee-free for participants.

Eligibility for the program is based on one or more of the following criteria:

  • If the individual has symptoms clinically associated with a certain lysosomal storage disease
  • Family history of lysosomal storage disease
  • Lab results that suggest, but do not confirm a lysosomal storage disease diagnosis
  • “Presumptive positive” newborn screening

Individuals who have already received a lysosomal storage disease diagnosis are still eligible for participation in the program.

Programs like this one could make a meaningful difference to the field of lysosomal storage disease study. Individuals with a family history, who might not otherwise get screened for LSDs, may be encouraged to take action. Others who might want testing, but are deterred by a lack of support or available money, could also benefit. Because lysosomal storage diseases can have serious health implications, early diagnosis can make a huge difference in a patient’s potential outcome.

Initiatives like this ought to be applauded — they not only provide meaningful help to those who might need it, but also can help to advance our understanding of a group of conditions that often have no available treatment.


What do you think of this exciting program? Do you think more companies should offer services like this? Share your thoughts with Patient Worthy!

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