DIRECTORS REPORT

Rare Genetic Diseases continue to be a focus of the Centres research, education public engagement programmes. In the following pages, I highlight some of the Centres activities on inherited metabolic diseases (IMDs), which constitute a large group of rare diseases, and I do so from the perspective of the burden borne by patient families. In May 2015, the Centre hosted a one-day meeting on Dietary interventions in Inborn Metabolic Disorders, which was attended by doctors, scientists, nutrition experts, industry representatives and parents of children with IMDs to discuss the special dietary products currently available for treating and managing IMDs. Among the speakers were Prof. Ram Rajashekharan, Director of CFTRI, Mysore and Prof. G. Padmanabhan, Former Director of IISc and Head, BIRAC, DBT, Government of India.

Special dietary products can be life saving and/or disease modifying if made available to the affected child at an early stage. These products are at present imported at high cost, with the additional burden of custom duties, making them inaccessible or unaffordable to patient families. For instance, the approximate cost of an imported tin of a product for a child with phenylketomeniais Rs. 15,000/-. Around 4-6 tins are required per month in infancy.

Clinical geneticists from the Centre have been conducting IMD clinics at government hospitals and other teaching hospitals. A significant proportion of the patients with rare disorders evaluated by us come from low socio-economic backgrounds, often BPL card holders. Patients with acute IMDs who would benefit from special dietary products fall under 3 main categories. (The number of patients being studied at CHG is indicated in brackets).

Children diagnosed with classical Phenylketonuria (at present 16 children aged 0-16 years are being followed up for dietary and medical assessment);
Patients with glycogen storage disorders, mainly type I (~40 patients) and
Patients diagnosed with organic acidurias, who are on low protein dietary products (~5 patients)

Most of the affected children are on locally produced dietary products and a few are on imported products. For each child receiving these products, there is a regular follow-up protocol involving a team consisting of a clinical geneticist, paediatrician, specialist metabolic dietician and biochemist. Initially, patient families are seen monthly and thereafter on a two-monthly basis. At each assessment a full clinical assessment is done to record growth and developmental parameters. Nutritional assessment is done at each visit for appropriate intake and compliance and metabolic parameters are monitored by tandem mass spectrometry which is being done at the Department of Neurochemistry, NIMHANS.

Since the monitoring of individuals receiving essential dietary products is of prime importance if clinical well-being and the effectiveness of therapy are to be assessed, the Centre proposes to enrol around 60-75 patients for evaluation of the products after obtaining due consents and approvals. The cost of such assessment per patient per year is approximately around Rs. 20,000/- in a government hospital. Products that are being developed in the country by CFTRI and other government supported agencies will also be evaluated in this manner as and when they become available.

Recent judgments by the Karnataka and Delhi High Courts directing that the State provide treatment to children with Lysosomal Storage Disorders (LSDs) and has drawn wide attention. These judgment are the outcome of PILs filed by parents with LSDs. It turns out that more than half the patients on whose behalf these petitions had been filed in Karnataka were diagnosed at CHG and were under the care of CHG's clinical geneticist. Because of the extensive press coverage these rare diseases have been receiving, CHG's work load has increased enormously. For instance, we have attended to and counselled 1,350 patients during the last 13 months at CHG or in one of the collaborating hospitals, such as the Indira Gandhi Institute of Child Health.

There are very few clinicians and scientists trained in this area. As a result, a large number of children go undiagnosed until it is too late. One of the steps CHG has taken to remedy the situation is a training programme, one for clinicians (Post-MD Fellowship in Paediatric Genetics under Rajiv Gandhi University of Health Sciences) and another for young scientists (an MSc Degree programme in Human Disease Genetics under Mysore University). Both these programmes are currently running successfully. We expect to begin two more courses, both at a diploma-level, one on clinical molecular and another on cytogenetics.