SHOULD THE ANIMAL TRIALS PROVE
fruitful, Dr Landstrom feels confident
that the UDN will be able to provide a
genetic diagnosis. For the first time,
the Teems and the Whites will be able
to put a name to the cause of their
families’ suffering. Considering that
so few patients ever get this far, the
cardiologist calls this a “huge step”.
The UDN hopes to publish its
research on this gene in early 2020;
until then, the name of the specific gene
will be confidential. Cope explains that,
once the UDN publishes, the gene can
be added to the panel of ARVC tests, so
future patients can be diagnosed before
it is too late. “At present, it isn’t public
knowledge so a cardiologist wouldn’t
know to look for it,” she says.
The goal then will be to develop a
medicine that can regulate the condition
and inform treatment for people like
Ethan and Austin. Landstrom admits
that this type of precision medicine is “a
very long-term goal that we may never
get to in my career” – so is unlikely to
directly benefit the two brothers.
Although the potential breakthrough
will realistically make little immediate
difference to his sons’ lives, Jeff White,
Ethan and Austin’s father, is thankful for
the UDN’s work. “Even if we don’t get
anything else out of it, if this means we
could help one person – save one life
through what we’re doing – that’s good
enough for me,” he says.�Tom Ward wrote about fighting
match-fixing in football in 07.19Below: For paediatric cardiologist Andrew Landstrom, studying stem cells is “like having the brothers’ hearts right in front of us”correct mutation. Because there is a
high degree of genetic conservation
among vertebrates, zebrafish allow
researchers to make an almost exact
replica of human genes.
“Zebrafish are transparent during
early developmental stages, which
means within a few days you can
actually see the heart beating,”
Westerfield says. “We can thenmonitor its heart rate for arrhythmia or
circulatory issues, and are also planning
to do some high-resolution imaging to
understand the cellular nature of the
disease.” Westerfield expects that the
experiments will yield results within
two months – but it is already clear that
the gene is expressed in the zebrafish
heart. This, he says, is “pretty good
evidence that it is in the right place”.13111-19-FTUndiagnosedDiseases.indd 131 16/09/2019 09:15