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sequencing facilities now available
in the country and a fair number of
clinical geneticists able to do deep
phenotyping, we are able to help many
patients. But, despite all these, there
are still several cohorts with genetic
disorders left undiagnosed. So, it is
important to collaborate with colleagues
and link the work done here as well as
at other places and take the initiative
as a community. This was the other
main aim of this conference held in
partnership with Undiagnosed Disease
Network International.”
This kind of conferences are also
a wake-up call for countries like India,
where genetic and metabolic disorders
are usually diagnosed with poor
outcomes.
“On this front, the major challenges
in India at present include the small
number of trained clinicians specialising
in diagnosing and counselling genetic
disorders, the few state-funded
diagnostic and research laboratories, a
lack of funding for genetic diagnostic
tests and less accessibility for therapies
and other interventions,” said Dr
Meenakshi Bhat, Senior Consultant in
Clinical Genetics at Centre for Human
Genetics at Indira Gandhi Institute of
Child Health, Bangalore.
According to Dr Seema Kapoor,
in-charge of Genetics and Metabolism
Division of Maulana Azad Medical
College, New Delhi, though India has
achieved significant milestones towards
tracking genetic disorders through
It is worth investigating the
cause of rare and undiagnosed
disorders, as this has been
made easier by the application
of massively parallel sequencing
technology.
Dr I C Verma
Advisor and key member,
Scientific Committee
several government funded initiatives,
including newborn screening for many
congenital diseases since 2013, the
challenges that still invite discussion
are the feasibility of coverage in less
developed areas, hilly terrains and home
deliveries.
“Besides, the availability of good
counsellors and a well-integrated followup
system needs to be developed,” she
said.
However, there is light at the end
of the tunnel. Among others, one of
the most recent collaborative research
programmes—The Genomics for
Understanding Rare Diseases: India
Alliance Network (GUaRDIAN) initiated
by the IGIB, has undertaken whole
exome and genome sequencing for
identification of variants and genes
implicated in rare genetic diseases.
“Using Mitochondrial rare genetic
disease examples, we will be able
to share our experiences from the
GUaRDIAN consortium where we
apply genome sequencing followed by
computational analysis and zebrafish
disease modelling to solve several
cases of undiagnosed diseases,” said Dr
Sridhar Sivasubbu, Principal Scientist at
CSIR-IGIB.
No doubt, only collaborative models
will work in such a complex task of
diagnosing unknown diseases to find
treatments for them. Dr Gahl concludes
that since the first meeting of the UDNI
in Rome in 2014, there have been six
international meetings, culminating in
the 2019 conference in Delhi. In the
past five years, over a dozen countries
have established Undiagnosed Disease
Programmes and the Network has
created several common platforms to
share experiences, information and
views. The main focus of the Network
involves sharing of genotypic and
phenotypic data and best practices.
And this, amongst others, can
ultimately help advance the diagnosis
and care of rare and undiagnosed
diseases.
92 / FUTURE MEDICINE / May 2019