Rare Diseases and COVID-19 in India - looking back, looking forward

The COVID-19, from an isolated outbreak in Wuhan, China has over the last few months emerged as a global pandemic of humongous proportions, impacting lives and livelihoods across the globe in an unprecedented fashion. The stealth of spread has left many unprepared and unaware.

Among the many patients suffering from morbidities due multiple causes, patients with rare diseases compose a huge proportion of individuals who are impacted by the COVID-19 epidemic. This is more so, because of the large number of patients suffering from rare diseases or traits, encompassing almost 300 million people around the world. The impact of the COVID-19 epidemic in many cases is not limited to the disease, but also availability of drugs and therapeutics, access to treatments, and of course research into cures for disease. It is now appreciated widely how many therapeutic trials have now come to a grinding halt, with long term implications on cures for rare disease patients.

COVID-19 and Rare Diseases

The impact of COVID-19 on rare disease patients in terms of their access to appropriate diagnostics, treatment, care and well being still remains unquantified. It is heartening to note that a number of initiatives addressing and mitigating the impact of COVID-19 on rare disease patients have been initiated globally. It is important to note that COVID-19 has a major impact on the clinical trials globally, and this is expected to significantly impact the pipelines for rare diseases.

The data on Rare diseases conferring resistance or susceptibility to is limited to anecdotal evidence. In one of the recent papers, it was suggested that patients with X linked agammaglobulinemia, a class of primary immunodeficiency disorders could recover from the disease, pointing to the role of B cells in the disease pathogenesis. While such anecdotal information needs validation from larger and independent observations, before it can guide policy and protocols for management of conditions, it is also important to suggest that such anecdotes can provide interesting insights into the biological basis of COVID-19 and its pathophysiology. It is therefore important to initiate large scale and systematic programmes to understand how COVID-19 has impacted the rare disease community.

The search for genetics of COVID-19 resistance

A number of initiatives now have ventured into understanding host genetic makeup and its contribution to susceptibility or resistance to COVID-19. This includes the COVID-19 host genetics initiative which aims to harmonise efforts of the human genetics community globally towards efforts to generate, share and analyze genomic data and to be able to understand the genetic determinants of COVID-19 susceptibility, severity and clinical outcomes. Many similar efforts have also been floated around the world in similar lines.

With the limited understanding of the molecular pathophysiology of COVID-19 it is prudent to assume that a subset of patients, depending on the molecular defects could be significantly susceptible or resistant to the disease manifestations of COVID-19. The recent availability of a large network of virus-host protein interactions, has provided us a unique handle to approach this problem. A number of rare disease genes conspicuously figure in the protein-protein interactions between viral and host proteins, for example GLA and other genes in lysosomal storage disorders and a number of mitochondrial and mitochondrial localised genes which could have the potential to significantly modify the pathogenesis of COVID-19. This is a unique opportunity therefore to not just understand human genetic factors modifying COVID-19, but also to provide unique insights into therapeutic modalities for COVID-19.

Active participation of patients and patient support groups in COVID-19 research can therefore open up a unique opportunity in combating the pandemic. India with a population of 1.2 billion people and home to over 70 million people suffering from rare diseases would therefore provide a unique opportunity in this regard.

The GUaRDIAN Initiative 

The Genomics for Understanding Rare Diseases India Alliance Network (GUaRDIAN) is a collaborative network in Rare DIseases encompassing over 70+ clinical centres and over 200 clinical collaborators from across India. The network was initiated at the CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB) to understand the genetic landscape of rare diseases in the country and to enable cost-effective genomic diagnostics. The efforts have led to the significant availability and accessibility of cost-effective genetic diagnostics for prevalent genetic diseases as part of the GOMED initiative as well as working closely with diagnostic laboratories.

As part of the ongoing efforts, we understand that we could significantly contribute to the understanding of host genetic factors influencing / modifying COVID-19. We would soon initiate an outreach compiling and communicating scientific evidence on Rare Diseases and COVID-19.

We call upon patients and patient support groups to participate in the unique research on identifying genetic modifiers of COVID-19. This programme COVID-19 Rare Disease Genomics Initiative aims to connect patients, clinicians and researchers towards understanding genetic correlates of rare diseases as modifiers for COVID-19. To participate in the ongoing research, we invite patients and caregivers to enrol using the primary questionnaire. Please also feel free to share in your networks for wider dissemination.

To participate in the Rare Disease and COVID-19 Questionnaire, please use the online proforma 
Please share in your networks for wide circulation

We also invite active participation from patient support groups and organisations working in the area of rare diseases to support and partner in this initiative. A list of partnering organisations are listed below.


Lockdown 3.0: Rare Diseases Patients Neglected, Continue To Suffer In Absence Of Care

Partnering Organisations

Neuromuscular Disorders

Please contact Dr Vinod Scaria vinods@igib.in to partner in this initiative.

Authored by

Abhinav Jain, Mukta Poojary and Vinod Scaria

About Authors
Abhinav Jain is a graduate student working in the area of Primary Immunodeficiency Disorders at the CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), India
Mukta Poojary is  a graduate student working in the area of Lysosomal Storage Disorders at the CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), India
Vinod Scaria is the co-founder of GUaRDIAN and a Scientist at the CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), India