Pioneering Research by PGI Rheumatologists

Chandigarh, September 11, 2020: Prof Jagat Ram, Director PGIMER, Chandigarh today informed that a pioneering research done by the rheumatologists from PGIMER Chandigarh in the field of systemic vasculitis has shown the world that a disease known as DADA2 which was previously known to occur predominantly in children, also occurs in adults.
This disease was recognized only very recently in 2014, and is caused by a defect in ADA2 gene which results in deficiency of ADA2 enzyme.
What was known till now was 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 and also other internal organ involvement.
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 lungs, infarction of 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 which 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 a support for the use of these drugs in this disease, and would be an impetus for the Atma Nirbhar bharat push by the Prime Minister.
This also has a global connotation as 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 American College of Rheumatology with an impact factor of 9.6.
This paper immediately created a buzz on twitter and the journal showed an altmetric score of 32 and this paper entered in 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 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 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.

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