The Indian Council of Medical Research has recently
set up a Registry of Rare Diseases. A rare disease is defined as a
disease with a prevalence of less than 1 in 2500 population. Research in
rare disorders is important because it helps to clarify mechanisms of
disease, which may have unexpected windfalls in other wider areas. For
example, the discovery of statins was due to research into primary
hypercholesterolemia. The finding that patients with Laron’s syndrome
are immune from cancer has opened the floodgates to research in the role
of insulin-like growth factor 1 (IGF1) in cancer. Many of the rare
disorders are due to mutations in single genes unlike common disorders
which are due to a complex interplay of multiple genes and environment.
Hence rare disorders break new frontiers in the basic understanding of
medicine.
The scope of this registry will evolve over time. It
will begin as a community-building effort to clarify basic understanding
of patients and disease characteristics, and grow slowly to a supportive
mechanism for research funding and attracting healthcare providers for
these orphan diseases. It intends to comprehensively cover the spectrum
of rare and ultra-rare disorders prevalent in the country but initially
it shall only gather data of conditions which have an established
treatment available in India or globally. With time, many of the other
diseases would also be incorporated.
The classes of diseases initially targeted are
lysosomal disorders, hemoglobinopathies, skeletal dysplasias, primary
immunodeficiencies, bleeding disorders and neuromuscular diseases. More
than 70 million people in India suffer from various rare disorders, and
both diagnosis and medical care is a challenge for them. The aim of the
project is to monitor incidence, prevalence and natural history of
disease; to provide access to innovations in diagnosis and therapy; and
to support research innovations. Rare diseases are part of the romance
of science, and this passion often fuels great breakthroughs.
(http://bmi.icmr.org.in/irdr/index.php, The Hindu
18 June 2017)
Online Survey of Stress in Doctors
An all India survey by the Indian Medical Association
reveals that a whopping 82.7% feel stressed out in their profession. The
chief cause of stress was fear of violence in 46.3% followed by the fear
of being sued in 24.2%. The online survey included 1681 participants,
including physicians, surgeons, gynecologists and super-specialists
working in diverse settings ranging from private hospitals to
governmental set-ups. The fear of violence has reached an all time high
with majority having considered hiring security in their premises.
Maximum violent outbursts were faced by doctors
working in emergency care settings. According to 90% of the doctors
surveyed, patients’ relatives often subject doctors to unruly behavior,
verbal abuse and physical assault post-surgery. Violence is largely
unreported either due to fear or concern for the patient’s distress. Why
is violence at the work place rising? Why are we silent about it? What
can be done? Questions that haunt every doctor today can’t be easily
swept under the carpet. Rome is burning and we cannot nonchalantly play
the fiddle. (The Hindu 3 July 2017)
Genomic Vaccines
A revolution in on the way. Genomics is set to
transform vaccine development. The traditional route to vaccine
development takes anywhere between 7-15 years, and costs $200 to $600
million. Genomic vaccines promise to cut down both the money and time.
There are many key areas of vaccine development that can be handled by
genomics. Normally identifying the key antigens of the pathogen to be
incorporated in the vaccine is a herculean task. High-throughput
methods, in which multiple antigens can be screened simultaneously,
could dramatically speed the process.
A new technique, reverse vaccinology, begins with the
sequenced genome of a pathogen, and then uses statistical analysis to
identify the genes that are most likely to influence the pathogen’s
ability to infect the host. The proteins that these genes code for
become the target antigens, and a vaccine is created from this
information. Genomic advances may also make animal models obsolete. If
scientists can use genomic data to engineer human tissue in the
laboratory, they may be able to study host-pathogen interactions and
vaccine efficacy directly in human tissue, and eliminate the guesswork
of translating results from animal to human models.
Genomic vaccines will be made from DNA or RNA which
enter the cell and produce the required protein. Compared with
manufacturing proteins in cell cultures or eggs, producing the genetic
material should be simpler and less expensive. A single vaccine can
include the coding sequences for multiple proteins, and it can be
changed readily if a pathogen mutates or properties need to be added.
Genomics also enables a new twist on a vaccination
approach known as passive immune transfer, in which antibodies are
delivered instead of antigens. Scientists can now identify people who
are resistant to a pathogen, isolate the antibodies that provide that
protection and design a gene sequence that will induce a person’s cells
to produce those antibodies.
Genetics is the flavor of the day and vaccines are not exempt from
it. (Scientific American 26 June 2017)