Experts suggest genetic counselling, family tree mapping to address rare diseases

Healthcare experts and leading neurologists have suggested steps such as genetic counselling and family tree mapping along with incentives to encourage indigenous production of specialised drugs to address rare diseases, debilitating, lifelong diseases or disorders with a low prevalence.

According to K.P. Vinayan, chairman of the paediatric neurology sub-section, Indian Academy of Neurology, marriages between members of the same family are found to have been one of the reasons for genetic disorders, including some of the rare diseases, among their children. Reducing instances of such marriages could help bring down the number of affected children. Along with that, mapping of the family tree could be taken up to find out if any one else has been affected with a rare disease earlier. Counselling could be given to parents. If one child already has a rare disease, the parent could be given medical treatment to ensure that the next child turns out to be healthy.

These issues were discussed at ‘Advances in Paediatric Neuro Muscular Diseases 2025’, the first international conference on neuromuscular disorders held in Thiruvananthapuram, recently. Over 100 medical professionals and researchers discussed the latest advancements in treating neuromuscular disorders there. The experts who attended various sessions at the conference also advocated for incentives to encourage indigenous production of orphan drugs, the specialised medications developed for rare diseases.

Dr. Vinayan, one of the key organisers of the event, says that governments in developed countries have introduced schemes to promote investment in orphan drug research and manufacturing. However, most of those drugs are covered by a patency period spanning several years and are expensive. “We will either have to wait till the patency period gets over so that our manufacturers can also develop them or negotiate directly with the pharmaceutical innovators to reduce the drug costs and improve accessibility,” he says.

The health care experts and neurologists, who attended the event, urged the Union government to strengthen policies and funding for Spinal Muscular Atrophy (SMA) patients. According to them, SMA remains one of the most devastating neuromuscular diseases, causing progressive muscle weakness, loss of mobility, respiratory complications, and, in severe cases, early mortality. While global advancements in gene therapy and targeted treatments have significantly improved patient outcomes, access to these therapies in India remains a major challenge due to high costs and infrastructure limitations. India’s National Policy for Rare Diseases was a step forward in addressing rare disease care, offering financial support of up to 50 lakh for specific treatments and establishing Centres of Excellence (CoEs) to enhance diagnosis and care. However, the experts said that many patients continue to face barriers in accessing timely treatment due to funding delays, high drug prices, and limited availability of specialised care. The judiciary has intervened in several cases to ensure that funds promised for CoEs are released promptly, highlighting the gaps in policy execution.

Giovanni Baranello, Professor of Paediatric Neuromuscular Disorders, University College of London, U.K., said during the conference that Kerala’s approach towards rare diseases is noteworthy as it integrates early screening, genetic diagnosis, physiotherapy, nutrition, and respiratory support, ensuring a comprehensive care model. The State government’s Kerala United Against Rare Diseases initiative, provides free treatment and multidisciplinary care for affected children. Free drug therapy is offered to over 100 SMA patients. U.R. Rahul, the Rare Disease State Nodal Officer, said more children will be included in the list.