Many genetic diseases continue to lack curative treatment. Being rare, the numbers of patients with these disorders are
small and this limits the interest of researchers involved in developing treatments for rare disorders. Thus, rare diseases
continue to get neglected all over the world. Many countries have shown commitment to these disorders by way of
grouping these ‘Orphan’ diseases and putting in separate efforts for drug development and for making the existing drugs
available to the patients. India was and still is battling against nutritional diseases and infectious diseases which
contribute greatly to morbidity and mortality, especially in infants and children. Any efforts for diagnosis,
prevention and management of genetic diseases were resisted at the first step as they were not considered a
priority as against other major contributors to mortality and morbidity. But now as the situation in India is
changing as reflected by decreasing infant mortality rates, the contribution of rare genetic diseases and birth
defects has become important. This is being realised by the medical community as well as government policy
makers. There is a welcome change in the attitude towards genetic diseases and this comes at the right
time when the country is in the transition phase of going from the status of a developing to a developed
nation.
Thalassemia and haemophilia are the commonest of the genetic disorders and government funding for the
comprehensive management of these diseases is already in place in many states in India and is gradually taking the shape
of well organised programs. The recent “Initiative on Hemophilia Care III - A sensitization programme and the way
forward” organized on the World Hemophilia Day, 17th April 2017, gave insights into the programs running in various
states and the commitment of doctors and the Haemophilia Federation. The presence of policy makers and funding
agencies of government at the meeting was very soothing and the complete support to establish state-of-the-art
haemophilia management in India was obvious. Similar improvement in the situation for thalassemia and
hemoglobinopathies is visible over the last few years. As these health care programs are getting established, one
looks forward to similar support for other rare disorders. An initiative for other rare disorders has begun.
The first important step in this direction was to launch a national rare disease registry which has now
been initiated with the support of the Indian Council of Medical Research (ICMR). This was a part of the
National Initiative for Rare Diseases (NIRD) organized by the Department of Paediatrics, All India Institute
of Medical Sciences, New Delhi and ICMR on 26th and 27th April 2017. This meeting was attended by
all stakeholders: patient support groups, clinical geneticists, pharmaceutical companies, and government
representatives and the deliberations will guide the government policy for rare diseases. In addition to making
the novel drug treatments available to Indian patients, issues related to research in drug development in
India were also discussed. Indigenous drug development may be the ideal long-term solution as the drugs
available currently are exorbitantly costly and funding treatment for patients in India may be a mammoth
task, because due to the large population, the absolute numbers of patients of rare diseases are also not
small.
The third important meeting in April 17 in the area of rare diseases was the ICMR-Inserm-DBT Symposium
on Ethical and Scientific issues of Gene Editing using Crispr-Cas9 Technology on 27th – 28th April 2017.
CRISPR–Cas9 technology has revived the hope of gene therapy for all monogenic disorders. As the world
is trying to make the best use of the technology to provide simple answers to the gigantic problems of
untreatable disorders, Indian scientists also need to take up the challenge. At this stage this meeting is a very
welcome step. This small group meeting brought scientists and clinicians in India together and provided
an opportunity to interact with scientists and bioethicists from France and other countries in Europe as
the international collaborator for the meeting was the French National Institute for Health and Medical
Research.
The hope for curative therapies has again brightened the horizons for patients with genetic disorders as is reflected in
some of the articles in the GenExpress of this issue. We hope that Indian scientists contribute to the development of gene
therapy and novel drugs based on the understanding of pathophysiology of the diseases and provide affordable treatments.
As new drugs develop, the Indian government has shown commitment to provide patients and families ready
access to treatments. April 2017 had been a happening month for geneticists and patients with genetic
disorders.
