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Rare genetic diseases hard to treat
An aborted foetus was brought to the Centre for Cellular and Microbiology (CCMB) recently and the case history read thus: Due to repeated renal cyst and central nervous system (CNS) malfunction repeated abortions took place in a lady and the lips of the baby folded up to the nose. Dr Lakshmi Rao Kandukuri, principal scientist at CCMB had a problem; she wanted to know if there was a name to this ra
High resolution array-based genetic testing not available in Hyderabad
Hyderabad: An aborted foetus was brought to the Centre for Cellular and Microbiology (CCMB) recently and the case history read thus: Due to repeated renal cyst and central nervous system (CNS) malfunction repeated abortions took place in a lady and the lips of the baby folded up to the nose. Dr Lakshmi Rao Kandukuri, principal scientist at CCMB had a problem; she wanted to know if there was a name to this rare disorder.
After several discussions and exchange of mails with counterparts in America it came to be known as Mecael Gruber syndrome. This in a nutshell sums up the problem of rare diseases. known and drug management is known for just 500 rare diseases.
The lack of high resolution array-based genetic testing and next generation sequencing that is essential for genetic tests is not available in the twin cities.
Fact file
According to data tabulated by rarediseasesindia.org, with over 11 million affected people, Uttar Pradesh has the maximum number of rare disease patients. Sikkim has the lowest with a little under 36,500 patients.
As per Indian Society for Clinical Research (ISCR):
- The number of people suffering from rare diseases is 70 million in India and 350 million around the world
- 1 in 20 Indians is affected by a rare disease
- There are 7,000 known rare diseases,treatment is available for just 500
- 80% of the rare diseases have a genetic origin
- 50% rare diseases affect children
Every other day children with rare diseases are taken to hospitals but there is no equipment to start treatment. There are just two private labs- Illumina and Asymetrix that have the facility to conduct tests but it is beyond the reach of the common man. These tests cost between Rs 50,000 to Rs 1 lakh.
Dr Lakshmi who has been studying the structural abnormalities or numerical abnormalities says, “A syndrome cannot be termed unless there is accurate testing and a network between clinicians, geneticists and good management of rare diseases is done.”
Nearly 80 per cent of the rare diseases have a genetic origin and 50 per cent affect children, most of who do not live beyond five years and every year, 17 lakh children are born with various types of genetic diseases in India.
It may be noted that twelve-year-old Nagoji Usha from the old city survives only on milk and without definitive diagnosis; doctors are still divided whether she has Rett syndrome or Autism. She is unable to speak and has numerical and structural problems. She is tied to a chair as she wanders away and cannot return home on her own.
It takes 7-8 years to diagnose a rare disease and 95 per cent of rare diseases do not have a single FDA approved treatment. Suneela Thatte, president, Indian Society for Clinical Research (ISCR) says, “Lack of awareness and scientific knowledge in rare diseases often leads to misdiagnosis or late diagnosis and delayed treatment.”
The government needs to focus on an orphan drug policy for rare diseases, said Prasanna Shirol, co-founder of Organisation for Rare Diseases India (ORDI) who is a father of a patient with Pompe disease.
