- World Rare Disease
Day is marked on the last day of February each year to raise awareness
about rare diseases
- This is a platform
to bring together clinicians, researchers, pharma and biotech, policy
makers and governments
diseases or orphan diseases, are neglected with no treatment or drugs
is Rare Disease Day?
Rare Disease Day is marked on the last day of February each year to raise
awareness about rare diseases. This is a platform to bring together clinicians,
researchers, pharma and biotech, policy makers and governments. Rare diseases
are called so, because of the rarity
of occurrence in the population. Also known as orphan diseases, most of these
are neglected with no treatment or drugs available. Globally there are 350
million people with rare diseases. There are totally 7000 rare diseases and
counting. Eighty percent of all rare diseases are genetic caused
by gene mutations. Fifty
percent of the affected are children. Thirty
percent of the affected
children will not live beyond the age of 5. Eighty
percent of the rare disease groups are affected by 350 rare
all rare diseases have an FDA-approved treatment.
and adults affected with rare
often struggle with a long diagnostic odyssey which may vary
from 1-8 years. In India, it takes almost 8 years to get an accurate diagnostic
of a rare disease. Fifty
the affected children do not live beyond the age of 5. Hundred percent of the treatment
expenses are borne out-of-pocket.
‘World Rare Diseases Day is a platform to raise awareness about rare diseases among the general public, clinicians, pharma and biotech, policy makers and governments across the world. There is a need to address the issue of proliferating rare diseases and the issues regarding access to healthcare and outcomes.’
globally, clinical knowledge of rare diseases is dismal compared to other
infectious and chronic disorders. Health systems are ill-equipped to deal with
the complexities of rare diseases and often treatment and drugs are expensive
and unaffordable to most families. In such a scenario, it is important to raise
awareness for access, equity, improved treatment, drug discovery and research
to ensure that sections of our population are not left out of healthcare.
Health is a fundamental right of every citizen in the world and no group should
be left languishing without proper access to healthcare.
is Rare Disease Day Important for India?
disease treatment has fallen through the cracks of the Indian public health
system. Indian health insurance companies
do not cover
rare disease treatment or hospitalization quoting the "pre-existing clause."
None of the health policies across the state have any reference to rare/genetic
disorders. Currently, a "skewed" national policy for the treatment of rare
diseases was released in 2017. India needs a holistic rare disease policy with
a robust orphan drug act. India also clearly lacks concrete epidemiological
data on rare diseases. There are very few accurate disease registries. This
creates a significant gap in determining the disease burden. Given India's
population, it is important to get an accurate estimate of the number of people
suffering from rare/ genetic disorders
in order to be able to put in place prevention
this scenario, Rare Disease Day is a significant platform for making the public
as well as health sector, government and agencies aware about its myriad
complexities and need for redressal.
Disease Day Theme 2018: Research
The theme for Global
since 2017 has been
"Research." Research is very important for rare diseases since less than five percent of these diseases have a cure or even a
drug. Research can accelerate the search for therapeutics, push for robust drug
discovery and ultimately find final curatives for rare diseases. Research is
the first step in the long pipeline towards drug discovery and curatives.
Currently, a good number of biotech labs and companies interested in rare
disease drugs and therapeutics have been making headway towards this goal. For
example, Sarepta Therapeutics has received FDA clearance for Micro-Dystrophin
Gene Therapy Program for the Treatment of Duchenne Muscular Dystrophy in 2017.
Similarly, Spinraza (Nusinersen) by Biogen has become the first FDA approved
drug (2016) for treating the rare neuromuscular disorder, spinal muscular
atrophy (SMA). Endari (L-glutamine oral powder) was the first FDA approved drug
by Emmaus Medical for treating sickle cell pediatric and adult patients.
India has been lagging
behind in efforts to promote and engage in deep research for rare diseases.
Since the disease is "rare" it is seen as just a small problem affecting a
minority. Neither researchers nor government and agencies see this as a problem
in the public health system. Hence, funds available for basic scientific research
which can be translated into drugs and therapeutics are few and far between.
The goal of Universal Health Care is "health for all" and we cannot be
oblivious to the plight of rare disease patients and families. Researching rare
genetic disorders will also lead to treatment for all common disorders. Ex:
research on inborn metabolic error Alkaptonuria also led to several drugs for
rheumatoid arthritis; researchers working on rare kidney disorder Focal
Segmental Glomerulosclerosis (FSGS) also cracked the disease pathway for
chronic kidney diseases thereby accelerating the search for a cure. No country
can afford to let genetic disorders proliferate in the interest of community
Rare Disease Day this
year will involve several conferences, symposiums and research roundtables in
line with the theme of "research" to encourage and motivate more medical and
translational research for cures. Rare Disease Day 2018 hopes that patient
communities will proactively take a role in research, set the goals and agenda
and organize research. It is vital for patients to get involved in research
which can then translate into practical drugs and cures. Rare disease patient
communities across the world have always engaged with researchers to accelerate
research. Currently in India there are rare disease communities which have been
organizing and taking an active role in research. For example, the Dystrophy
Annihilation Trust (DART) is entirely led by parents of boys with Duchenne
Muscular Dystrophy (DMD). Started by a parent Ravdeep Anand, DART has developed
its own research lab and is currently on the verge of starting clinical
research with patients for exon skipping which will enable patients to produce
a certain quantity of the missing protein "dystrophin." DART has been at the
forefront of advocacy and activism pushing better regulatory laws for clinical
trials and research. It is this exemplar that all rare disease patient
communities need to follow in India to take an active role in research and
- Rare Disease Day - (https://www.rarediseaseday.org/)