may edition file

events
7th Intl meet on rare diseases
puts India in focus
Experts highlight the importance of investigating the genetic disorders
which are largely left undiagnosed
India is home to an estimated
70 million people affected by
undiagnosed or rare diseases. Of
these, most are carriers of some
genetic disorder or the other. With
the advent of the latest sequencing,
newborn screening and other
technologies, a few genetic disorders
such as Down’s syndrome, beta
thalassemia and sickle cell anaemia
etc. are being well tracked and have
been found to be on the rise. Recent
estimates show that at least 21,400
children are born every year in India
with Down’s syndrome and another
9,000 to 10,000 children with
thalassemia. While these diseases
remain inadequately addressed as the
patients often do not recognize the
symptoms, the country’s problems
THE MESSAGE AT THE 7TH
INTERNATIONAL CONFERENCE
ON ‘RARE AND UNDIAGNOSED
DISEASES: ADDRESSING
PATIENT NEEDS IN INDIA’ WAS
LOUD AND CLEAR
with rare and undiagnosed diseases
continue to be worrying as there aren’t
enough trained clinicians to detect
and diagnose them. So, it is anyone’s
guess as to how bad the scenario is
in a country of 1.2 billion population
with widely varied communities and
subgroups carrying different genetic
profiles and, potentially, an array of
known and unknown genetic mutations.
Not surprisingly, every year,
thousands of men, women and children
face uncertainty when healthcare
providers are unable to discover the
cause for their symptoms. In India, with
its low awareness of such diseases,
a large number of patients are left
with no treatment and succumb to
their condition. To make it worse, drug
researchers and the industry often
neglect such diseases even if they are
diagnosed, as the market size for such
rare disorders are either not estimated
or comparatively much smaller.
The message at the 7th International
Conference on ‘Rare and Undiagnosed
Diseases: Addressing Patient Needs
90 / FUTURE MEDICINE / May 2019