Yahoo – AFP, Marlowe Hood, April 11, 2016
Paris (AFP) - Scientists said Monday they had found a handful of healthy people each carrying a genetic mutation that should have condemned them to crippling disease or death.
Scientists researched the genomes of nearly 600,000 normal people for telltale mutations leading to any of hundreds of distinct genetic diseases (AFP Photo/ Georges Gobet) |
Paris (AFP) - Scientists said Monday they had found a handful of healthy people each carrying a genetic mutation that should have condemned them to crippling disease or death.
The
discovery, made by scanning the genomes of nearly 600,000 normal people, opens
up a new approach to finding treatments for cystic fibrosis and dozens of other
rare and incurable conditions linked to specific variations in a single gene.
Up to now,
medical science assumed that anyone unlucky enough to have one of these
so-called Mendelian mutations -- named after the 19th-century founder of modern
genetics -- was doomed.
"Most
genomic studies focus on finding the cause of a disease, but we see tremendous
opportunity in figuring out what keeps people healthy," said Eric Schadt,
a professor at the Icahn School of Medicine in New York City, and a main
architect of the study.
"Millions
of years of evolution have produced far more protective mechanisms than we
currently understand," he said in a statement.
Together
with colleagues Stephen Friend and Rong Chen, Schadt led a team of 30
researchers in sifting through data on nearly 900 genes from each person's
genome, looking for the telltale mutations leading to any of hundreds of
distinct genetic diseases.
A rigorous
process of winnowing left them with 13 individuals who had gene variants that
would normally result in one of eight debilitating conditions.
Besides
cystic fibrosis, which inflicts severe damage on the lungs and the digestive system,
these included Pfeiffer syndrome, characterised by a severe deformation of
skull bones, and Smith-Lemli-Opitz syndrome, a disorder linked to multiple
malformations and intellectual disability.
The results
were published in Nature Biotechnology.
"These
rare individuals must possess some combination of factors -- genetic or
environmental -- that protects them from an otherwise crippling disease,"
Daniel MacArthur, a genomics researcher at Massachusetts General Hospital who
was not involved in the study, commented in the same journal.
The next
step would be to locate enough cases of people who have survived to adulthood
despite these genetic flaws to identify -- and eventually duplicate -- these
protective mechanisms.
'Genetic
superheros'
Until
recently, it would have been technically unfeasible to scan hundreds of
thousands of human genomes in this manner.
"This
study demonstrates the power of using big data to ask new biological
questions," said Anne Wojcicki, co-founder and CEO of personal genomics
company 23andMe, which participated in the project by providing access to data
on more than 400,000 of its customers.
In a
frustrating twist, however, the researchers were unable to follow up with any
of the 13 people found because of limitations in the consent policies they had
signed.
Experts
commenting on the study said this was a regretable shortcoming that limited the
value of the findings and would need to be changed in future research.
"Some
of the patients may have had disease that went unreported," said Scott
Hebbring, a scientist at the Marshfield Clinic Research Foundation and a
professor at the University of Wisconsin.
Ada Hamosh,
clinical director of the McKusick-Nathans Institute of Genetic Medicine at
Johns Hopkins University, said mutation for cystic fibrosis were so unlikely in
healthy people that the results may have stemmed from a "technical
error."
The two
cases of Pfeiffer syndrome, he added, could have been so mild as to not be
detected as such.
But
commentators agreed that the idea of scanning large populations to find
individuals who are healthy despite carrying gene variants known to cause
disease holds great promise.
"Achieving
this goal will require incredibly large sample sizes," measured in
millions not thousands, said MacArthur.
It will
also need what he called "genetic superheros" to step up and dotate
their genomic and clinical data so researchers can pick through them.
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