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 Ramon
Brugada, MD, FACC
Director, Molecular Genetics
Masonic Medical Research Lab
Utica, New York
1997–98 ACCF/Merck Fellow
“Dr. Brugada’s paper identifying
the first locus for familial atrial fibrillation will be one
of the most quoted for the next 10 – 20 years.”
— Robert Roberts, MD, FACC
When Dr. Ramon Brugada came to the United States
in 1992, his plan was to study cardiology and then return
home to Spain. He had never even seen a laboratory, let alone
planned a career in cardiovascular research. Thirteen years
later, he has mapped the first gene responsible for familial
atrial fibrillation and identified the genetic locus of two
idiopathic ventricular fibrillations, including Brugada syndrome.
More recently, he found the genetic defect that causes short
QT syndrome, a very severe cardiac condition that his brothers
were also the first to describe just a few years ago.
The impact of Dr. Brugada’s work is reflected in the
vast numbers of patients it may serve. Atrial fibrillation
accounts for one-third of all strokes in the United States,
and it is the most common cardiac arrhythmia, its prevalence
increasing dramatically as patients age from 65 to 80 years.
Identifying the first genetic locus for atrial fibrillation
and establishing its familial form is a step toward developing
specific therapies, says Dr. Brugada.
The ACCF/Merck Fellowship started it all, he
says. “The award put me in the lab for an extra year,
and that was when I came to the conclusion that research was
what I wanted to do.”
And he has never regretted it. Now in his third
year as the Director of Molecular Genetics at the Masonic
Medical Research Laboratory in Utica, N.Y., Dr. Brugada says
he has struck “the perfect balance.” His focus
is research, but he recently accepted a position as an associate
professor at Syracuse University, so he can teach. He also
sees patients one day a week at a private cardiology practice.
“For the last two years, I’ve been
in the lab, and I was missing patient interaction,”
he explains, “but mainly it was that patients with Brugada
syndrome wanted to see me. They come from all over the world.
I said it’s time to do a bit of clinical work, although
not so much that it affects my research.”
It has been “an unbelievable journey,”
says Dr. Brugada, in large part because of how fast the advances
have unfolded and because of the hope his work has brought
to families. In his view, that is the major impact of his
research. He explains: “We can do genetic screening
and we understand how the disease behaves, why those with
it develop sudden cardiac death, who is clinically at higher
risk of developing sudden cardiac death and how to protect
them. We now know that the defibrillator is the best way of
protecting them. There are diagnostic tests. We can do genetic
screening and define who is at risk, who is not at risk, who
is completely spared from the disease.”
In many ways, he says, the journey started
with his ACCF/Merck Fellowship: “It told me that the
project was on the right track and maybe I had a future in
research. And I’m still there, in research. These are
not things you forget.”
Dr. Brugada’s
Awards Include:
ACC Young Investigator Award
German Society of Cardiology Fritz-Acker Award
Third Mirowski Award
Josep Trueta Award
Doris Duke Clinical Scientist Development Award
Fourjay Foundation Award
AHA Scientist Development Award
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