FRIGE-Sanofi DISHA Program: Free of cost diagnosis for common lysosomal storage disorders

Sanofi has partnered with FRIGE to deploy DISHA program- a comprehensive program aimed at providing free of cost diagnosis for 5 common lysosomal storage disorders to patients from across India.

Lysosomal storage disorders are a group of 70 diseases that are caused by certain improper or non-functional lysosome enzymes. Individually, these diseases are rare but collectively, they occur in 1 in every 5000 child and often fatal.

Lysosomes are the “cleaners” inside the cells whose function is to dispose and recycle the waste products generated by the cells. When the lysosomes don’t function, these waste products accumulate all over the body leading to development of clinical symptoms such as- large spleen and liver, cheery red spots in the eyes, loss of learnt abilities (eg. talking and walking) etc.

Diagnosing these patients can help in giving life-saving treatment and provide counselling to the parents in subsequent pregnancies.

DISHA program overview

The program is designed to provide free of cost biochemical and genetic diagnosis for 5 common lysosomal storage disorders- Gaucher, Fabry, Pompe, ASMD and MPS I.

From a single blood draw in an EDTA vial, the team at FRIGE will carry out both biochemical and genetic diagnosis of these 5 disorders.

The biochemical tests are certified by ERNDIM- the highest certification worldwide for these tests. The genetic test is powered by FRIGE’s novel and patented smMIP based target capture and sequencing technology which is able to comprehensively detect both single nucleotide mutations as well as copy number mutations in the DNA.

By leveraging this cutting edge technologies, FRIGE and Sanofi are able to deliver reliable and accurate diagnosis to the patients.

Accessing DISHA program

Any clinician suspecting their patient with these 5 disorders can order the test. They can download a 1 page clinical pro forma here and send the sample along with signed pro forma to FRIGE for biochemical and genetic testing.

For any query regarding the program, you can contact us here.

About FRIGE

FRIGE is a pioneering diagnostics and translational research institution based in Ahmedabad, India. FRIGE pioneered biochemical and genetic diagnosis of lysosomal storage disorders in India.

The team was the first to report the distribution of different lysosomal storage disorders, lead numerous population and genetic epidemiology studies, and develop technologies to improve detection of these diseases across the country.

Dr. Jayesh Sheth, Chairman of FRIGE, has been a member of ICMR Task Force on LSD and the institute is currently the largest submitter for these disorders as part of the ICMR Task Force on Rare Diseases.