Short Communication

Rare diseases are not actually rare in India

B.K. Binukumar

CSIR-Institute of Genomics and Integrative Biology, New Delhi, India

of people worldwide. With over 7,000 known rare diseases globally, 80% of which have genetic origins, the

symptoms vary not only from disease to disease but also from patient to patient, even among those suffering

from the same disease. Most of these diseases are degenerative and progressive in nature. In India, over 70

million people are affected by rare diseases. Delays in early diagnosis due to lack of relevant genomic

information and scientific knowledge, as well as insufficient healthcare infrastructure and difficulties in

accessing treatment are some of the common challenges faced in the treatment of rare diseases. This study

provides an overview of global and national efforts to address rare diseases, the barriers to diagnosis and

treatment and the need for coordinated research, policy, and healthcare solutions.

Keywords: Orphan disease, NCATS, RARE List™, ICMR, IGIB

as an orphan disease. They are characterized by a broad diversity of disorders and symptoms that vary not only

from disease to disease but also from patient-to-patient suffering from the same disease. 80% of the rare

diseases have genetic origins and others are the result of infections, allergies, and environmental causes. Most of

them are degenerative and proliferate in nature and 50% of rare diseases affect children. Most common

symptoms can hide underlying rare diseases, leading to misdiagnosis. In most of the cases, there may not be

effective cure and can cause high level of pain and suffering to the patients as well as their families.

Early diagnosis is a major challenge in rare diseases and most cases remain undiagnosed for a long period of

time. Majority of the cases take more than 7 years to diagnose. During this period the patients experience poor

physical and mental health problems. They also try a variety of laboratory tests and often visit super-specialty

doctors and hospitals. It is very important to put an end to this diagnostic dilemma. Once the patient receives a

Common Problems faced and international initiative

The major delay in rare disease diagnosis is due to the lack of quality of genomic information and scientific

knowledge. The lack of appropriate quality healthcare engenders inequalities and difficulties in access to

treatment and care. Most of the time, this situation leads to heavy social and financial burdens on patients and

family. The initial misdiagnosis is common in most cases of rare diseases because of the board diversity and

relatively common symptoms associated with other diseases. Due to the spatiality and verity of rare diseases,

research needs to be global to ensure that policy-making experts, healthcare providers, basic researchers, and

clinicians are connected. In addition to that clinical trials are multinational and that patients can benefit from the

pooling of data and resources across borders. Initiatives such as the European Reference Networks, the

by about 7000 known rare diseases. Rough estimates indicate that over 70 million people in India are affected

by rare diseases, many of whom may still not have a diagnosis. Different rare diseases database including

Orphanet database is updated every year to accommodate new diseases that are being reported. Orphanet

database is maintained by the European Union. We do not yet have accurate statistics on the incidence or

prevalence of rare diseases in India. This is mainly because of the lack of definition and more importantly, due

to the lack of diagnostic tools and equipment and systematic data collection systems in India. Half of the rare

diseases are early onset childhood diseases. About 80% of all rare diseases are genetic in origin, most of them

monogenic. The US National Institutes of Health initiatives such as the Undiagnosed Diseases Network (UDN)

and the international rare diseases research consortium (IRDiRC) aim to address this challenge by accelerating

the speed of diagnosis. The goal is to bring the average time to diagnosis down to one year.

ensure involvement of the State in fulfilling the special needs of rare diseases. In the INSA rare disease

workshop (2016), the honourable Drug Controller General of India stated that a policy for accelerated clearance

of orphan drugs and fast-track approval is not in place because government needs clear-cut recommendations

regarding the definition of rare disease, mechanism for fast-track approval (e.g., waiver of a specific phase in

orphan drug clinical trial). He again stated that genetic differences in Indian population warrant studies from

India, rather than using data from studies in other countries. He also invited for expert suggestions on the need

of changes in the drugs and cosmetic act to meet the requirements of research in rare disease.[1]

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing

Translational Sciences (NCATS) and is funded by two associate institutions of the National Institutes of Health

(NIH): NCATS and the National Human Genome Research Institute (NHGRI). GARD provides the public with

The RARE List™ comprises approximately 7,000 different rare diseases and disorders affecting more than 300

million people worldwide. Some common diseases are included on the RARE List™ because in the United

States one of the primary criteria for recognizing a disease as rare is the prevalence of the disease fewer than

200,000 cases. Diseases such as malaria are quite common in some parts of the world but are considered rare in

the United States. Other diseases such as Cancer or Alzheimer's are not rare diseases, but certain forms of these

diseases are considered rare.[2]

The Indian Council of Medical Research (ICMR) initiative

ICMR has been providing financial assistance to projects for orphan disease research and for

sponsoring/organizing workshops /conferences /training programs on rare diseases. It has also taken the

initiative in the preparation of a registry for rare disease. [3,4] This is referred to as National Initiative for Rare

to the Indian context.

Diseases India Alliance Network (GUaRDIAN),” for the purpose to bring together and understand novel genetic

variations to achieve translational applications by both clinicians and basic science researchers. GUaRDIAN, the

pioneer and one of the largest networks of clinicians and researchers in India have been working on rare genetic

diseases. The CSIR- IGIB offers a research oriented, well-structured and carefully supervised training

programme in rare diseases and related fields.

Indian Collaborative Research Network on Wilson's Disease (ICROWD)

ICROWD is also another programme supported by CSIR at IGIB for Wilson’s diseases (WD). WD, a classical

monogenic disorder, is the commonest cause of paediatric chronic liver disease in Indian subcontinent and also,

one of the few treatable causes of liver disease across all populations. We have already established a pilot

network of over 40 clinicians and researchers from over 9 medical and research centres across the country

Nongovernmental organization initiative

Organization for Rare Diseases India (ORDI; www.ordindia.org) is a voluntary organization which was

established to deal with the rare disease conditions in the Indian population. The ORDI team members belong to

different disciplines and they need not have a science background. ORDI deals with the matters related to the

rare disease such as unique challenges in dealing with rare diseases. [6] The Indian organization for rare diseases

was conceived in 2005 and is incorporated as a not-for-profit organization in India as well as in the USA. It is

the umbrella organization and represents interests of all rare diseases, individual patients, patient support groups,

health policy advocates and health care provider for rare diseases.

Academic institutes

There are many ongoing research projects on various aspects of rare diseases undertaken by reputed institutes

such as AIIMS, PGIMER Chandigarh, Christian Medical College, Vellore, and SGPGI Lucknow. It is expected

that the outcome of these projects would contribute significantly to solving the existing problems in dealing with

Rare Disease Day® is observed worldwide, typically on or near the last day of February each year, to create

awareness among policymakers and the public about rare diseases and their impact on patients’ lives. [8,9] Each

year, NCATS and the NIH Clinical Centre (CC) sponsor Rare Disease Day at NIH as part of this global

observance. The global theme for 2019 was “bridging health and social care.”

Recently, the Government of India has informed the Hounarable Madras High Court during the hearing of a

Delhi, that the Government has published a draft policy on rare diseases, seeking public opinion on it. It will be

finalized only after considering the views of all stake holders. It is stated that the draft policy envisages a

provision of Rs. 150000, for meeting medical expenses, to those suffering from LSD. The draft policy

categorises rare diseases amenable to one-time curative treatment such as Haemopoietic stem cell