Born this way? Researchers explore the
science of gender identity
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[August 03, 2017]
By Daniel Trotta
NEW YORK (Reuters) - While President Donald
Trump has thrust transgender people back into the conflict between
conservative and liberal values in the United States, geneticists are
quietly working on a major research effort to unlock the secrets of
A consortium of five research institutions in Europe and the United
States, including Vanderbilt University Medical Center, George
Washington University and Boston Children's Hospital, is looking to the
genome, a person's complete set of DNA, for clues about whether
transgender people are born that way.
Two decades of brain research have provided hints of a biological origin
to being transgender, but no irrefutable conclusions.
Now scientists in the consortium have embarked on what they call the
largest-ever study of its kind, searching for a genetic component to
explain why people assigned one gender at birth so persistently identify
as the other, often from very early childhood. (http://reut.rs/2w3Ozg9)
Researchers have extracted DNA from the blood samples of 10,000 people,
3,000 of them transgender and the rest non-transgender, or cisgender.
The project is awaiting grant funding to begin the next phase: testing
about 3 million markers, or variations, across the genome for all of the
Knowing what variations transgender people have in common, and comparing
those patterns to those of cisgender people in the study, may help
investigators understand what role the genome plays in everyone's gender
"If the trait is strongly genetic, then people who identify as trans
will share more of their genome, not because they are related in nuclear
families but because they are more anciently related," said Lea Davis,
leader of the study and an assistant professor of medicine at the
Vanderbilt Genetics Institute.
The search for the biological underpinnings is taking on new relevance
as the battle for transgender rights plays out in the U.S. political
One of the first acts of the new Trump administration was to revoke
Obama-era guidelines directing public schools to allow transgender
students to use bathrooms of their choice. (http://reut.rs/2l8pWJe) Last
week, the president announced on Twitter he intends to ban transgender
people from serving in the military. (http://reut.rs/2uXF8kG)
Texas lawmakers are debating a bathroom bill that would require people
to use the bathroom of the sex listed on their birth certificate.
(http://reut.rs/2tXKbgV) North Carolina in March repealed a similar law
after a national boycott cost the state hundreds of millions of dollars
in lost business. (http://reut.rs/2nGg1OH)
Currently, the only way to determine whether people are transgender is
for them to self-identify as such. While civil rights activists contend
that should be sufficient, scientists have taken their search to the
That quest has made some transgender people nervous. If a "cause" is
found it could posit a "cure," potentially opening the door to so-called
reparative therapies similar to those that attempt to turn gay people
straight, advocates say. Others raise concerns about the rights of those
who may identify as trans but lack biological "proof."
Davis stressed that her study does not seek to produce a genetic test
for being transgender, nor would it be able to. Instead, she said, she
hopes the data will lead to better care for transgender people, who
experience wide health disparities compared to the general population.
One-third of transgender people reported a negative healthcare
experience in the previous year such as verbal harassment, refusal of
treatment or the need to teach their doctors about transgender care,
according to a landmark survey of nearly 28,000 people released last
year by the National Center for Transgender Equality.
Some 40 percent have attempted suicide, almost nine times the rate for
the general population.
"We can use this information to help train doctors and nurses to provide
better care to trans patients and to also develop amicus briefs to
support equal rights legislation," said Davis, who is also director of
research for Vanderbilt's gender health clinic.
The Vanderbilt University Medical Center in Tennessee has one of the
world's largest DNA databanks. It also has emerged as a leader in
transgender healthcare with initiatives such as the Trans Buddy Program,
which pairs every transgender patient with a volunteer to help guide
them through their healthcare visits.
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Dr. Ivanka Savic poses for a portrait at her home in Los Angeles,
California, U.S. June 30, 2017. Picture taken June 30, 2017.
The study has applied for a grant from the National Institutes of
Health and is exploring other financial sources to provide the $1
million needed to complete the genotyping, expected to take a year
to 18 months. Analysis of the data would take about another six
months and require more funding, Davis said.
The other consortium members are Vrije University in Amsterdam and
the FIMABIS institute in Malaga, Spain.
PROBING THE BRAIN
Until now, the bulk of research into the origins of being
transgender has looked at the brain.
Neurologists have spotted clues in the brain structure and activity
of transgender people that distinguish them from cisgender subjects.
A seminal 1995 study was led by Dutch neurobiologist Dick Swaab, who
was also among the first scientists to discover structural
differences between male and female brains. Looking at postmortem
brain tissue of transgender subjects, he found that male-to-female
transsexuals had clusters of cells, or nuclei, that more closely
resembled those of a typical female brain, and vice versa.
Swaab's body of work on postmortem samples was based on just 12
transgender brains that he spent 25 years collecting. But it gave
rise to a whole new field of inquiry that today is being explored
with advanced brain scan technology on living transgender
Among the leaders in brain scan research is Ivanka Savic, a
professor of neurology with Sweden's Karolinska Institute and
visiting professor at the University of California, Los Angeles.
Her studies suggest that transgender men have a weakened connection
between the two areas of the brain that process the perception of
self and one's own body. Savic said those connections seem to
improve after the person receives cross-hormone treatment.
Her work has been published more than 100 times on various topics in
peer-reviewed journals, but she still cannot conclude whether people
are born transgender.
"I think that, but I have to prove that," Savic said.
A number of other researchers, including both geneticists and
neurologists, presume a biological component that is also influenced
But Paul McHugh, a university professor of psychiatry at the Johns
Hopkins School of Medicine, has emerged as the leading voice
challenging the "born-this-way" hypothesis.
He encourages psychiatric therapy for transgender people, especially
children, so that they accept the gender assigned to them at birth.
McHugh has gained a following among social conservatives, while
incensing LGBT advocates with comments such as calling transgender
Last year he co-authored a review of the scientific literature
published in The New Atlantis journal, asserting there was scant
evidence to suggest sexual orientation and gender identity were
The article drew a rebuke from nearly 600 academics and clinicians
who called it misleading.
McHugh told Reuters he was "unmoved" by his critics and says he
doubts additional research will reveal a biological cause.
"If it were obvious," he said, "they would have found it long ago."
(Reporting by Daniel Trotta; Editing by Marla Dickerson)
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