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Professor Gerry McElvaney has helped
put RCSI and Ireland on the map for
global research. His laboratory is now
recognised as one of the major units
investigating the protease-antiprotease
balance in lung disease.
e unit also has an international
reputation in the areas of cystic brosis
(CF)-neutrophil activation, enoplasmic
reticulum (ER) stress, airway signal
transduction and, more recently, post-
translational modi cation of host-
defence proteins in lung disease.
Over the years, Professor McElvaney
and his team have attracted national
and international funding and have
led signi cant collaborations with
pharmaceutical companies interested in
their translational research.
Professor McElvaney says his formative
medical years were spent in the US,
where he resided from 1988 until 1996.
"Studying and working in the US had
a major impact on me. e National
Institute of Health (NIH) in Maryland
is the largest research institute in the
US. I was working in the pulmonary
branch at the National Heart, Blood
and Lung Institute (NHBLI) and, at the
time, this was where the most important
global respiratory research was taking
place, so it was a great opportunity to
work with, and learn from, the expert
researchers and clinicians based there. I
was fortunate to work with the famous
US pulmonologist, Ron Chrystal, who
was the head of the Pulmonary Branch
at NHBLI, and who encouraged me to
move with him to Cornell University in
New York.
"We were responsible for the rst gene
therapy study in CF. A er this study,
NHBLI was also responsible for medical
breakthroughs in other types of lung
diseases sarcoidosis, emphysema and
pulmonary brosis. I returned to Ireland
in 1996 to work in Beaumont Hospital
and apply what I had learned in the US
Professor McElvaney and his team
specialise in alpha-1 antitrypsin
de ciency (AATD), a speci c hereditary
form of chronic obstructive pulmonary
disease (COPD).
"Our research in this particular area is
highly ranked worldwide. We would
have a signi cant patient cohort in this
area, so the lessons we learn through
our research can be extrapolated into
the more common forms of COPD.
"In Ireland, one in 25 people carry a
de ciency gene and we have about
200,000 people who have the milder
form of AATD but who are signi cantly
susceptible to full-blown COPD if they
smoke. An interesting point to make
is that children who have the severe
form of AATD, may occasionally need
liver transplants. We collaborate with
our colleagues in Crumlin Hospital in
this area, as we are looking to treat liver
disease associated with AATD."
Professor McElvaney and his team have
created new therapies for this lung disease.
ey have shown that if you give weekly
infusions of the protein which is missing
from patients with AATD, you can slow
down the progression of emphysema.
is has never been shown before and
this particular study was published in
e Lancet in 2015. "In ve years' time
I want us to have developed a cure for
AATD," he says.
In terms of treatment for AATD, alpha-1
augmentation therapy is a once-weekly
intravenous drip of the alpha-1 protein
given to patients who have the severe
form of AATD. is has a long track
record of being a safe and well-tolerated
Augmentation therapy reduces the rate
of lung function decline and reduces the
loss of lung tissue on CT scan, therefore,
improving the quality of life for alpha-1
In the eld of AATD, Professor
McElvaney was honoured by the US
Alpha-1 Foundation in 2012, for his
outstanding research over 20 years,
which has improved the understanding
of AATD.
Examples of this research include a
major breakthrough in identifying
people who have an increased risk of
developing COPD due to a single copy
of the defective Z alpha-1 antitrypsin
(AAT) gene.
e research provided robust evidence
that individuals who have inherited a
combination of one normal (M) and
one abnormal (Z) AAT gene have an
increased risk of developing COPD.
Previously, it was thought that only
individuals who inherited two abnormal
copies of the AAT gene were at risk of
COPD. Cigarette smoke was found to
be a signi cant factor in determining
whether MZ individuals developed
Moreover, Professor McElvaney made
a further important breakthrough in
the understanding and treatment of
hereditary emphysema due to AATD in
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and es iratory ons tant
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