Maximum communities in India, irrespective of religion, marry in their respective communities like Jain, Aggarwal, Muslims, Sikhs, etc. Socially, there is nothing wrong with it rather it is widely respected and acceptable. BUT, Hold On!! It could cribble the life of a couple who marry within their community because of ADA2 Gene. The Child from this kind of couple may fall prey to Gene Defect; which is a rare disease but makes any one’s life upside down. Your child may have a sudden stroke along with rashes on the skin which you and your neurologist may think its a usual Brain Stroke, but it is not, it will happen again, and its DADA2. So, understand it timely, and reach a specialist doubting it as DADA2 if you had married in the same community.
PGIMER, Chandigarh has now proudly become a world leader in treating this type of disease too. All credits go to Research Leader Prof Aman Sharma, Chief of the Rheumatology Department and his team. PGIMER has also been able to tell World that this disease can affect not only small kids but adults too (age 40 years). This disease is particularly known as DADA2 and World gets to know about it in 2014 and the PGI Rheumatology department started treating these patients from 2016 onwards.
This disease is caused by a defect in the ADA2 gene which results in a deficiency of the ADA2 enzyme. What was known till now was is that this disease manifests in the form of vasculitis, immunodeficiency, and bone marrow failure. The median age of involvement of all the 210 cases known till now was 4 years, whereas the present study has had a median age of 15 Years with patients presenting even as late as in the fourth decade of life. This disease was known to present with brain strokes, bad extensive skin rashes, limb gangrene, pancreas, heart, and also other internal organ involvement.
Prof Jagat Ram, Director PGIMER, Chandigarh informed that pioneering research done by the rheumatologists from PGIMER Chandigarh in the field of systemic vasculitis has shown the world that the disease is known as DADA2 which was previously known to occur predominately in children, also occurs in adults.
The researchers led by Prof Aman Sharma, Rheumatology services, Department of Internal Medicine reported manifestations not known to be associated with this disease till now like hemorrhage in the lungs, infarction of the pancreas, a kind of brain(PRES), and heart involvement (focal myocarditis). Prof Aman Sharma informed that it is important to recognize this entity since strokes do not recur if the treatment is started. What Prof Sharma’s group showed for the first time was the good treatment outcomes of other disease manifestations which had not been reported previously. Their group is also the first to report that similar biological drugs that have a much lesser cost then the innovator drugs are also effective. This would help reduce the cost of treatment significantly.
As many of these similar biological drugs are made in India, this would give support for the use of these drugs in this disease and would be an impetus for the Atmanirbhar Bharat push by the Respected Prime Minster. This also has a global connotation as the cost is a major hindrance to treatment for most of the developing world.
This paper has come online in ‘Arthritis and Rheumatology’ an official journal of the American College of Rheumatology with an impact factor of 9.6. This paper immediately created a buzz on twitter and the journal showed an altimetric score of 32 and this paper entered the top 5% of all research outputs scored by Altmetric within 48 hrs of its coming online.
Prof Savita Kumari, Head Department of Internal Medicine, informed that the Rheumatology Unit of the Department of Internal Medicine has been at the forefront of Vasculitis research in the world, and is also a much-preferred treatment centre which is even recommended for vasculitis treatment by the vasculitis foundation, USA. She also shared that PGIMER as an Institution and Prof Aman Sharma as an expert are ranked number one in India in the field of systemic vasculitis according to Experts cape, which objectively ranks people and institutions by their expertise. Prof Sharma has been an invited reviewer for the ACR EULR draft classification criteria for various vasculitis disorders. He was a member of the annual meeting planning committee of the American College of Rheumatology and has edited a very popular textbook of systemic vasculitis.