BBC Knowledge 2017 02

Kat Arney is a London-based science

writer and broadcaster. Her first

book, Herding Hemingway’s Cats:

Understanding How Our Genes Work

(Bloomsbury Sigma) is out now.

running around with these

mutations but still have no disease,”

she says.

“I think if we found out that this is

environmental, then that’s even

better. If you can find out what

those environmental factors are, you

have much better ways to treat

people with ‘bad’ genes. It is much

harder to change your genetics than

your environment.”

Whether it’s nature, nurture

or a combination of the two, the

existence of genetic superheroes

tells us that strictly Mendelian ideas

about one gene fault always leading

to one disease are far too simplistic.

Now we’re starting to rif le through

the genes of the fit and well, we’re

finding all kinds of surprises. For a

start, we need to start viewing

people who carry genes for ‘pure’

Mendelian diseases as existing along

a spectrum, ranging from severely

affected at one end to superheroes at

the other. And, in fact, everyone’s a

bit mutant, carrying up to 40 ‘bad’

gene faults.

As head of a clinical genetics

department, Wijmenga finds this

ambiguity challenging. “We’re

dealing on a daily basis with

patients,” she says. “We sequence

their genome and find a mutation,

and we have to predict what we

think that means.

It’s important that we have a

much better understanding of

our genome and when a

mutation matters and when it

doesn’t. In the past we had

this kind of black-and-white

idea but now there are all shades of

grey. It’s an interesting time to be a

geneticist, I would say!”

The Resilience Project was

planned to begin its first

phase of recruitment in

autumn 2016. It will initially

launch in the US, before

expanding to other countries.

It will take people through a

short survey to assess their

chances of being resilient to

genetic diseases. Find out

more and sign up for updates

at resilienceproject.com

ARE YOU

A GENETIC

SUPERHERO?

explains Bobe.
“Now that we have molecular
tools like whole genome
sequencing, we can generate a lot
of data on this one person and try
to identify the factor that’s
providing protection. Because,
if we can identify something like
a protective mutation that’s actually
fending off this heritable disease,
then we can identify either
preventive strategies or maybe
develop new therapies.”
The environment may also play
a role in determining whether
someone succumbs to the effects
of a mutation or not. That could
cover anything from a person’s diet
and lifestyle to the womb where
they grew from a single cell into
a baby. It’s this aspect, that most
excites Wijmenga.
“In the end there are still people

HERO HUNT

Above: Niemann-

Pick disease causes

a fatty substance

called sphingomyelin

to accumulate

in the body, as seen

in this bone marrow.

Some individuals

in the Dutch study

had the genes

for it, but are

seemingly healthy.

February 2017 77