Sequencing the future

SPOTLIGHT
NEUROSCIENCE
Sequencing
the future
The African genome is the oldest,
and as such, the most diverse
in the world. But Africans have
largely been under-represented in
neurogenetic studies. The University
of Cape Town (UCT) Neuroscience
Institute is helping to change that
through a range of forward-looking,
international, collaborative projects
on genetics and the nervous system.
IMAGE: SHUTTERSTOCK
Genetics & mental illness
Psychiatrist and scientific director of the
Neuroscience Institute, UCT Professor
Dan Stein, believes that neurogenetics
will play an important role in future
brain science. He explains that the
UCT Psychiatric Neurogenetics Group,
co-headed by Drs Shareefa Dalvie
and Nastassja Koen, is involved in
several projects looking at the genetics
underlying mental illness.
One, is the UCT-led, South African
Drakenstein Child Health Study: a
multidisciplinary study following
1 000 mother–child pairs to investigate
a range of factors – including genetic
and environmental – that may impact
maternal and child health. The
researchers have already assessed a
subset of the participants with a panel of
markers from across the genome that are
relevant to psychiatric disorders, he says.
The group is also involved in several
multinational psychiatric genomic
projects.
“We are working with the
international Psychiatric Genomics
Consortium,” says Koen, “to include
our South African samples in their
large-scale, genome-wide studies on
post-traumatic stress disorder and major
depressive disorder.
“And we’re participating in the
Enhancing Neuro Imaging Genetics
through Meta-Analysis Network,”
continues Koen, “70 institutions from
around the world investigating brain
structure, function and disease using
brain imaging and genomics.”
The group also recently partnered
with researchers at the University of
Oslo’s Norwegian Centre for Mental
Disorders Research to build capacity
by training young researchers and
conducting research in the field of
imaging genomics.
Genetics & neuromuscular
disease
Other genetics research of the
Neuroscience Institute is concerned
with neurological diseases that affect
people of African ancestry in specific
ways. One example is the important
research on myasthenia gravis – an
uncommon and complex autoimmune
disease that causes weakness in skeletal
muscles.
Professor Jeannine Heckmann
and her team in the UCT Division of
Neurology have, for the past decade,
been investigating the cause of a
severe and treatment-resistant form
of eye muscle weakness that’s more
common among African individuals with
myasthenia gravis.
Dr Melissa Nel, who works with
Heckmann, says recent research has
uncovered new genes and pathways
that may be disturbing the healing
and energy use of muscles in those
susceptible to the condition. Working
in collaboration with surgeons has
yielded results supporting what they’ve
found through their genetic studies.
“Successful collaborations with
ophthalmic surgeons have provided
opportunities to – for the first time –
measure metabolic function and gene
expression in eye muscle tissue,”
Nel explains.
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