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Experts call for using pharmacogenetics to develop treatments for rare diseases

Laxmi Yadav, Mumbai
Friday, October 28, 2022, 08:00 Hrs  [IST]

As drug companies have embarked on an initiative to launch affordable medicines for rare diseases in India, experts have called for using pharmacogenetics to develop treatments and whole genome sequencing to identify etiologies.

“Although rare diseases have a huge impact when taken together, there is a significant gap between clinical interventions and basic research. There are now opportunities to accelerate drug development for the treatment of rare diseases. Disease foundations and research centres around the world are working to better understand rare disorders. Because rare diseases are usually genetic diseases, using pharmacogenetics to advance drugs and whole genome sequencing to identify pathogenesis are appropriate strategies to employ. The advantages and difficulties of target-based and phenotypic screens are discussed, beginning with high throughput screening of small molecules,” said Raheel Shah, director, BDR Pharmaceuticals.

Early this year Satyanarayana Chava, founder of Laurus Labs announced that the company is looking to launch affordable drugs for rare diseases like Wilson’s disease and cystinuria in India.

In India, nearly 70-90 million people suffer from rare diseases which is an under-reported figure, the actual figure could be higher.

The revised National Policy for Rare Diseases, 2021 called for promotion of local development of drugs for rare diseases by drug companies. The Policy states, “Department of Pharmaceuticals, Department for Promotion of Industry and Internal Trade (DPIIT) will be requested to promote local development and manufacture of drugs for rare diseases by public and private sector pharmaceutical companies at affordable prices and take legal/legislative measures for creating conducive environment for indigenous manufacturing of drugs for rare diseases at affordable prices. PSUs could also be encouraged for local manufacturing of drugs for rare diseases. The Ministry of Finance will be requested for reduction in custom duties on import of medicines related to rare diseases.”

“Availability and access to medicines are important to reduce morbidity and mortality associated with rare diseases. Despite progress in recent years, effective or safe treatment is not available for most of the rare diseases. Hence, even when a correct diagnosis is made, there may not be an available therapy to treat the rare disease. There are between 7,000 – 8,000 rare diseases, but less than 5 per cent have therapies available to treat them. About 95 per cent rare diseases have no approved treatment and less than 1 in 10 patients receive disease specific treatment. Where drugs are available, they are prohibitively expensive, placing immense strain on resources. In the absence of insurance coverage or adequate financial support, this adds to the financial burden of the patients and their families,” said Shah.

Though rare diseases could affect a relatively small percentage of the Indian population, together they impact the lives of millions. The direct and indirect costs associated with these diseases are higher as compared to others. This is largely because most of these rare diseases are chronic and degenerative in nature, causing disabilities in the patients as they grow old, lack of adequate or proper screening and diagnosis of rare disease patients, especially in the remote areas of the country, he said.


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