30 DISCOVERMAGAZINE.COM
Shoukhrat Mitalipov. “I thought I knew all the legitimate
groups working [on this],” says Mitalipov.
Chinese researcher He Jiankui’s announcement last
November came on the eve of the International Summit on
Human Genome Editing in Hong Kong. He was scheduled to
give a talk on his work shortly after Mitalipov’s colleague Paula
Amato, an associate professor of obstetrics and gynecology and
a doctor in the OHSU fertility clinic.
“I was quite shocked to hear that someone actually had the
guts to transfer these embryos and establish a pregnancy, given
the uncertainty regarding safety,” says Amato. Mitalipov esti-
mates the gene editing technology won’t be ready for clinical
trials — meaning tests in real pregnancies — for another five
to 10 years.
Beyond the scientific challenges, the legal and ethical con-
siderations normally keep this kind of research at a slower
pace. In 2017, the National Academies of Science and Medicine
brought together ethics experts and scientists to decide, in part,
whether and how to allow changes to the human germline —
changes to DNA that would be passed on to future generations.
The report’s criteria were to serve as international guidelines
for human gene editing research.
But He’s work fell well outside those parameters, triggering
a huge backlash from scientific and ethics communities world-
wide. For instance, the National Academies report specifies
that any editing of DNA should prevent a serious heritable
disease. However, He started with a healthy gene and created
a mutation thought to increase resistance to HIV. Another
criterion is that the edit should happen only “in the absence
of reasonable alternatives.” But HIV is considered preventable
and treatable. The list goes on, with many questions about the
legality and transparency of his work.
Mitalipov’s group, on the other hand, is working to correct
a mutation in a gene called MYBPC3, which causes hyper-
trophic cardiomyopathy (HCM). This thickening of heart
muscle causes a wide variety of heart problems. HCM most
often makes the news when it unexpectedly claims the life of a
young athlete, and autopsies reveal a previously undiagnosed
heart condition. There is no cure.
A FOCUS ON REPAIR
Some of He’s most extreme critics have called for a moratorium
on similar work, but Mitalipov hopes the backlash doesn’t
interfere with his team’s research.
“Moratorium,” says Mitalipov. “I hate that word.”
A stall in the group’s work would mean turning away from an
issue Mitalipov has felt strongly about for years. As a graduate
student in clinical genetics, he recalls learning how to diag-
nose inherited diseases based on a patient’s genes. And he was
unsatisfied with the endgame.
“You’d tell the patients, ‘Hey, we found it, this is a mutation
causing this disease,’ ” he says. “And then the patient is going
to say, ‘Now what?’ But that’s it, our work is done.”
It then became clear to him that one way to tackle these dis-
eases — like cystic fibrosis, sickle cell anemia, and Huntington’s
— would be to fix the genetic mutations early in life, before
any damage to the gene is done. Really early: in the embryo.
As a graduate student in clinical
genetics, Shoukhrat Mitalipov learned
how to diagnose inherited diseases
based on a patient’s genes. He was
unsatisfied with the endgame.
KR
ISTYNA^ WENTZ-GRAF
F/OHS
U