When you begin your 8th decade on this earth, you should begin to wonder what choices in life make sense going forward. Mahatma Gandhi, the father of our nation has been a beacon for me all my life and this discussion takes me back to Gandhiji’s talisman which was stated in the context of Swaraj but like many of his sayings have universal value.
"I will give you a talisman. Whenever you are in doubt, or when the self becomes too much with you, apply the following test:”
"Recall the face of the poorest and the most helpless man (woman, child) whom you may have seen and ask yourself, if the step you contemplate is going to be of any use to him (her). Will he be able to gain anything by it? Will it restore him to a control over his own life and destiny? … Then you will find your doubts and yourself melting away.”
To me that face is of a young child suffering from a rare or orphan disease – a primary immuno-deficiency, a lysosomal storage disorder, a hemoglobinopathy or a muscular dystrophy. There are roughly 25 million babies born in a year in India. While our registries of genetic disorders are quite poor, global statistics indicate that 3 to 5% of the children born will carry a deleterious genetic trait in their germline DNA. They may be considered children of a lesser God as these disorders fall in cracks between public health (since they are “rare”) and commercial health providers – the biopharma industry and private healthcare. Also, India does not have a GINA or a Genetic Information Non-discrimination Act making them even more vulnerable.
Therefore, I pose the question, “Can we achieve No Disease Orphan by 2030”? By all rights this should have been a declared sustainable development goal (perhaps SDG #18) of the United Nations but is not so and thus, by Gandhiji’s Talisman, seems like a worthwhile mission to take forward.
Earlier last month, I had my 69th birthday. It was a joyous day as I was able to celebrate with my wife, daughter, son-in-law, and our precious granddaughter who is 7 years old. I couldn’t help but think to myself that I am now closing in on the start of my 8th decade and it is time to launch the mission.
As a scientist, I had trained deeply in engineering systems and decision sciences and was a professor for over two decades in engineering and computer science. A transformation into a computational biologist and entrepreneur followed for another two decades which led me to building an early technology company, Strand Life Sciences, in personalized and precision medicine solutions for genetic disorders including orphan disease patients in India.
We had realized at Strand Life Sciences, about a decade back, that genomics and molecular biology had matured to a point where we could make a difference in the clinic and truly impact lives of fellow human beings. We worked out how, starting from observing symptoms of disease and disabilities of people, we could use these magnificent advances in measurement at the molecular level to tease out critical information that could help physicians and healers begin to treat these affected people with a level of precision that was new to medical practice.
At Strand and in other labs in the country, we have demonstrated the first promise of the genomics revolution – namely to rapidly read and interpret the genomes of patients. Technically, the diagnostic odyssey problem faced by orphan disease patients could be solved by population scale sequencing of genomes. The rapid reduction of cost of sequencing is also getting us to solutions that can be implemented as public health initiatives through social ventures. The diagnostic approach can also assist in the preventive strategies for orphan diseases with carrier and pre-natal testing and counselling.
Access to universal health care is an aspiration for any society and should certainly be ensured as a fundamental right to all citizens and any modern country that should invest in capacity that can make this a reality. Yet it is not so in many countries and India is one such. With the lack of a formal social net for health care, the informal, private and corporate agencies have stepped forward. The awareness of society, health authorities and the leadership of the states and the country about the challenges and opportunities for providing support for orphan disease patients and their caregivers has improved over the last decade worldwide and in India as well. My work with the IIACD trust at the Centre for Health, Education and Technology and the OPFORD Foundation have been small steps in the direction of outreach to orphan disease communities to connect them with resources, and to society at large to create awareness.
So we seem to have paths worked out for outreach, diagnosis, preventive screening and counselling. But the BIG question is that of therapeutic care – whether BMTs, Nucleic Medicines or viral vector based Gene Therapies all have made great progress but are still not scaling at a pace that would help the 300 million orphan disease patients worldwide. How about the next promise of the genomics revolution – affordable and personalized genomic medicines.
After a few false starts, it does appear that genomic medicine or the ability to treat genetic disorders with affordable and directed nucleic methods has a path that we need to explore and elaborate and bring to clinical practice. There are several challenges of course but there does appear to be light at the end of the tunnel. The recent development of lipid nanoparticles or LNPs for single administration of CRISPR/Cas9 to achieve robust and persistent in vivo genome editing – offers the amazing opportunity to actually cure or alleviate significantly the condition of patients with monogenic orphan diseases. We may recall that it is these LNPs that have also made the rapid development of mRNA vaccines for SARS-CoV2. If a novel vaccine can be developed from pathogen discovery to approved delivery in less than 1 year, as we witnessed recently,
No Disease Orphan is starting to seem a distinct possibility by 2030.
Professor Vijay Chandru (PhD MIT in Operations Research), taught at Purdue and at IISc. He is a fellow of the academies of science and engineering in India and a national distinguished technologist and an executive advisor to ARTPark at IISc, As an entrepreneur, Vijay led Strand Life Sciences as Executive Chairman (2000-2018) company. A winner of national MCIT award for ICT innovation, President’s medal of INFORMS, and Technology Pioneer of the World Economic Forum, Vijay was named among the 50 pioneers of change by India Today in 2008. He subscribes to the cadre of historians of the now.