In uncovering a diagnosis,
Dr Saumya Jamuar hopes that it will
also lead to more effective ways of
managing and treating these patients.
Growing up, Dr Saumya Shekhar
Jamuar loved the satisfaction
of putting together seemingly
unrelated puzzle pieces to
form a complete picture.
Now a clinical geneticist,
Dr Jamuar, Senior Consultant, Genetics Service,
KK Women’s and Children’s Hospital (KKH),
solves puzzles of another form, providing
answers and closure for many children and
families with rare genetic disorders.
As a paediatrician, Dr Jamuar witnesses
the anguish that parents of children with
undiagnosed genetic disorders face.
“Specialising in genetics gives me the
opportunity to provide parents with a more
complete picture of their child’s condition.
Trying to find answers for the patient and
their family is a source of tremendous joy
and satisfaction,” he said.
Beyond that, uncovering and identifying
a rare disease also help clinical teams gain
a deeper understanding of their patient’s
condition. They can then target the most
appropriate treatment for the patient,
although Dr Jamuar also acknowledged
that therapeutic options for this group are
limited at the moment. “This is another area
of research that I am focusing on,” he added.
Among his successful attempts at genetic
sleuthing is the discovery of the world’s first
known case of a rare genetic syndrome,
now called ‘Jamuar Syndrome’. It is named
after the doctor due to his role in identifying
Dr Jamuar, who first encountered the
disease in a pair of siblings at his clinic in
2015, said that due to a genetic variation,
the patients had a missing ‘scaffold’ that is
critical for the growth of brain cells.
“This variation caused brain cells to become
disorganised and dysfunctional, which in turn
led to developmental delays, epilepsy and
speech impairment. We have since identified
many more patients with the syndrome, he said.
While having the discovery named after
him is “an honour”, Dr Jamuar pointed
out that what is more important is that an
answer to the patients’ symptoms was found,
which then allowed the team to consider the
next steps in better managing the patients.
In another case, a one-year-old child, who
had repeated infections and stayed in the
hospital since she was seven days old, was
found to have a rare genetic defect called
ectodermal dysplasia with immune deficiency,
which is caused by a gene mutation.
“The parents were relieved to hear about the
diagnosis because we did not have to perform
further diagnostic tests and stem cell transplant
became a treatment option for the child. Indeed,
after the transplant, she managed to go home
after more than a year,” Dr Jamuar said.
“The parents felt a lot of guilt thinking
that it could be something they did or did not
do during pregnancy that caused the disease.
Identifying the rare genetic defect assured
them that the disease is not their fault.”
Although the child eventually passed away
when the immune dysregulation recurred, the
silver lining is that the diagnosis allowed the
team to learn about and inform the parents
about the low risk of a similar defect. They
went on to have a healthy child.
Making waves in the field
Currently, a day at work for Dr Jamuar
revolves around clinical, research and
administrative duties. In the clinic, he reviews
and manages patients with genetic disorders.
Since receiving the National Medical
Research Council Clinician Scientist Award in
March 2022, Dr Jamuar has spent around 70
per cent of his time on research activities. His
research focuses on using cutting-edge genomic
technologies to find the genetic basis of patients
whose rare diseases have remained unsolved
despite going through advanced genomic tests,
such as whole exome or genome sequencing.
He explained, “It includes not only
looking at the genetic code using long-read
sequencing, but also looking at the ‘message’
that is produced by the genetic code to
identify aberrations in the message. In
patients where we do find novel variations,
we explore the effect of these variations in the
laboratory to confirm the relationship between
the variation and the patient’s medical history.”
Dr Jamuar is also looking at the genomic
data of healthy Singaporeans, under the
PRECISE (Precision Health Research,
Singapore) initiative, to understand the
prevalence of genetic diseases among
Singaporeans. He is also collaborating with
researchers from Duke-NUS Medical School,
A*STAR (Agency for Science, Technology
and Research) and Nanyang Technological
University to explore developing therapeutics
for patients who have received a diagnosis.
He believes that the field of genomics
will continue to grow, with Singapore being
well-positioned following the launch of the
National Precision Medicine Initiative. “In
the past, we had knowledge of around 200
disorders, but over the last decade we have
discovered more than 7,000 genetic disorders.
There are still 13,000 genes that we do not
fully understand, which we will continue to
learn and research about,” Dr Jamuar said.
Outside of work, the father of three girls
is much like any other doting parent. He
spends quality time with his family by engaging
in outdoor activities, and catches up with
the extended family and friends over meals.
The former hockey player has also recently
restarted a running regime in the hopes of
playing the sport again in the near future.
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