• Stimulus

Exploring the Science Behind ‘Rare’ - A conversation with Prof. Parimal Das

-Aryaditi Jena

February 28 was recently celebrated as “Rare Disease Day” to raise awareness for rare diseases, improve access to treatment and widen the representation of individuals and families of those living with a rare disease. This campaign primarily targets the general public and also seeks to raise awareness among policymakers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases. 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for a majority of rare diseases and many go undiagnosed. To raise further awareness about the significance of this day, we at Stimulus, interviewed Prof. Parimal Das, Coordinator of the Centre of Genetic Disorders, Banaras Hindu University - an eminent scientist working with rare diseases and contributing to the field invaluable.

Centre for Genetic Disorders, Banaras Hindu University

Celebration of Rare Disease Day at CGD, BHU

The Centre for Genetic Disorders was established by BHU as its academic unit in 2008. The major objective of the institution is to estimate the burden of genetic disease on the community, unravel their underlying molecular mechanism(s) and develop strategies to diagnose, treat and manage them. More information on research carried out by Prof. Parimal Das and his lab can be found at

Prof. Parimal Das, despite his busy schedule, was kind enough to agree to an interview with Stimulus Prof. Das pursued his Master’s Degree and PhD from the Department of Zoology, Banaras Hindu University. He then went on to pursue his post-doctoral Fellowship from the Baylor College of Medicine and M D Anderson Cancer Center, USA. He then joined BHU as an Associate Professor in May 2008. Prof. Das shared his pearls of wisdom with us, as you can read about in the following interview:

1. The centre for genetic disorders, BHU has been functional for about 15 years and has been dealing with patients with rare diseases such as Down’s Syndrome, Duchenne’s Muscular Dystrophy, Orofacial Cleft, Cystic fibrosis, Thalassemia, Sickle Cell Anaemia and various kinds of cancers. It has also trained a number of excellent researchers and scientists. What in your opinion are the most prominent contributions it has made to society at large?

Prof. Das: CGD has been running a Chromosomal & Molecular Diagnostic and Genetic Counselling Unit (Registration No.-72/PNDT/2003) for the last 15 years. CGD provides genetic diagnostic services to patients and families as a no-profit service to society. Since 2012 the Centre has been running a one of its kind post-graduate diploma in chromosomal, genetic, and molecular diagnostics producing skilled personnel to serve the society. Our research team at CGD is involved in human and clinical genetics research for identifying new markers for rare genetic diseases which are prevalent in India to use them for quick DNA based diagnostic purposes and advising medical practitioners for practising personalized medicine.

2. What are the disorders or diseases you're currently working with at CGD?

Prof. Das: We are currently working on a number of disorders, some of them are:

  • Tooth agenesis: A congenital developmental disorder affecting 7-8 per 100 people per year. The main symptoms are missing one or more teeth. The most common genes responsible for the disorder are PAX9, MSX1, EDA1, AXIN 2.

  • Renal cancer: Mainly studying the effect of the fusion protein on cell proliferation in renal carcinoma.

  • Polycystic Kidney disease: Finding the spectrum of genetic mutations in Indian patients and families to develop quick DNA based diagnostics and thereby finding better genetically matched donors for a kidney transplant.

  • Parkinson Disease: It’s a neurodegenerative disorder, finding Indian population-specific mutation spectrum for practising personalised medicine.

  • Amyotrophic lateral sclerosis: It’s a progressive neurodegenerative disorder affecting 2-3 in 1,00,000 persons per year where the nerve cells in the brain and spinal cord are damaged thus causing loss of muscle control. It affects mainly elderly people. Finding the underlying role of genetic component and the best plausible clue of its management.

  • Autism Spectrum Disorder: Finding the genetic basis of this complex neurodevelopmental disorder for better management.

3. What kind of response have you got this far for your research/findings?

Prof. Das: We have received an appreciable amount of response and recognition for our on-going research findings.

4. What are some of the recent developments in the research domain of molecular genetics that could contribute to your on-going research?

Prof. Das: Our recent findings of Indian population-specific mutations/hot spots regions of several genetic disorders, including rare diseases using high throughput data generation and multivariate analysis give us strong leads for disease diagnosis, risk calculation, disease management and practising personalized medicine.

5. Share a turning point or defining moment in your work at CGD, BHU?

Prof. Das: In my opinion, one of the most important defining moments in my work at CGD, BHU was getting recognition as an important institutional laboratory working on Parkinson’s Disease worldwide. The Centre for Genetic Disorders and I, as a scientist are now part of the Michael J Fox Foundation Global Research Consortium. Centre for Genetic Disorders is the only centre from India that has earned this recognition for its unparalleled research findings on Parkinson’s Disease.

6. What legislation would you change to improve the research in your field?

Prof. Das: Though non-medicos like researchers and scientists with their years of experience and expertise have made thorough progress in the research field regarding rare disorders. However, they sometimes still face difficulties while serving as genetic counsellors. So in my opinion, non-medical faculties in India should also be allowed to practice genetic counselling like in other developed nations.

7. What are some of the general factoids about Rare Diseases that you work with that the general public should be a little more aware of?

Prof. Das: More than 300 million people worldwide have a Rare Disease and around 7000 diseases are classified as “Rare” worldwide. Defective genes cause more than 80% of rare diseases. Signs of several rare diseases are observable at the time of birth or in childhood. Children account for 50% of patients with Rare Diseases. Genetic testing is useful in finding a diagnosis, which is one of the major facilities provided by CGD. I believe in encouraging the general public to get involved in the Rare Disease campaign to save them and save our society.

8. What is your opinion are some of the biggest challenges you face as an organisation while carrying out research on rare diseases?

Prof. Das: There is a lack of awareness among the public about rare disorders which often leads to delay in diagnosis, feeling of discrimination and isolation among patients. Moreover, funding opportunities for rare disorders are also limited.

9. For the benefit of our readers, can you please tell us a little more about the academic opportunities at CGD?

Prof. Das: Students enrolled in the PhD program under my supervision are carrying out researches in diverse fields like the genetics of congenital tooth agenesis (CTA), Polycystic kidney disease (PKD), Neurodegenerative disorders like Parkinson’s Disease (PD), Amyotrophic Lateral Sclerosis (ALS), a neurodevelopmental disorder like Autism Spectrum Disorders (ASD) and cancer biology. Students enrolled under other faculties in the department carry out research work on other developmental genetic disorders.

10. What is your message for students looking to venture into a similar field?

Prof. Das: Students should have a keen interest, innovative thinking capability, and above all patience and perseverance to stick to this field. Like in any other field, research life can have ups and downs so patience is a must.

We would like to once again extend our gratitude to Prof. Parimal Das for taking out the time to converse with us and inspire the young minds of tomorrow to take up research.