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SPECIALS WITH THIS AD EXPIRES 10/31/19
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SPECIALS WITH THIS AD EXPIRES 10/31/19
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BRONX TIMES REPORTER, O 34 CTOBER 18-24, 2019 BTR
Montefi ore Einstein doctor
receives NIH grant to
expand newborn screening
Pediatric genetic expert Dr. Melissa
Wasserstein has been awarded
$3.2 million from the National Institutes
of Health (NIH) to conduct
the most expansive consented pilot
newborn screening study in
the country, known as ScreenPlus.
Newborn babies are currently
screened for between 30 to 50 disorders
depending on their state. Dr.
Wasserstein and New York State
Newborn Screening Program colleagues
Drs. Joe Orsini and Michele
Caggana will offer parents at
eight New York hospitals the option
to have their babies screened for an
additional 13 disorders. Samples
from approximately 150,000 ethnically
diverse babies across New
York State will be screened at the
Wadsworth Center,
New York State’s public
health laboratory.
The results of the
study will provide
critical information
about whether these
disorders should be
added to routine newborn
screening panels nationwide.
“Rare diseases that are serious
and even life-threatening can
be diffi cult to diagnose, and often
families go from specialist to specialist
trying to fi nd answers,” said
Dr. Wasserstein, chief of Pediatric
Genetic Medicine at the Children’s
Hospital at Montefi ore and professor
of Pediatrics and of Genetics
at Albert Einstein College of Medicine.
“Newborn screening enables
us to diagnose problems early, and
connect families with medical experts
who can start treatment as
soon as possible, leading to better
health outcomes.”
Routine newborn screening is a
public health service that has helped
improve children’s health since the
1960s. When a baby is born, a small
drop of blood taken from the heel
is sent to a lab where it is tested
for rare diseases such as cystic fi -
brosis and sickle cell anemia. Over
the years many diseases have been
added to the routine panel. But
there are additional genetic disorders
where detection at birth could
improve outcomes. Pilot newborn
screens like ScreenPlus are the
ideal way to evaluate if the clinical
benefi t of screening for additional
diseases outweighs the risks. Now,
Dr. Wasserstein will lead the largest
multi-disorder study to date, to determine
which other rare diseases
should be screened for at birth and
how to make the screening test as
accurate as possible.
In addition to the NIH grant,
ScreenPlus is also funded through
a unique cost-sharing collaboration
between academia, several leading
pharmaceutical companies focused
on treating rare diseases, and the
Firefl y Fund NPC Newborn Screening
Workgroup, which runs a diverse
multi-stakeholder* initiative.
Another unique aspect of Screen-
Plus is its focus on evaluating novel
ethical concerns. As the technical
ability to screen newborns grows
exponentially, new questions have
arisen, such as whether it is benefi
cial to screen newborns for diseases
that might not present until
adulthood. Working with co-investigator
Dr. Aaron Goldenberg, Vice-
Chair and Director of Research for
the Department of Bioethics at the
Case Western Reserve
University School of
Medicine, ScreenPlus
will include thousands
of parents in
these discussions using
a series of surveys
and qualitative interviews
to provide invaluable
information to doctors and
scientists about the impact newborn
screening has on families. Ultimately,
it will ensure that parents’
opinions are incorporated into the
development of ethically sensitive
newborn screening policies.
“By identifying babies with complex
disorders as early as possible,
we have the opportunity to provide
FDA-approved treatments or connect
them to clinical trials that offer
promising treatments,” said Dr.
Wasserstein. “We believe Screen-
Plus will add to the scientifi c body
of knowledge about newborn screening
but also, importantly, will offer
hope to families for their children’s
future.”
*Firefl y Fund’s Niemann Pick
Type C Newborn Screening Initiative
consists of the following community
supporters: Ara Parseghian
Medical Research Fun (APMRF);
Dana’s Angel’s Research Trust
(DART); Hide and Seek Foundation;
Hope for Marian; International Niemann
Pick Disease Alliance (INPDA);
Jonathan’s Dreams; Kure
for Kamryn; Niemann Pick Australia;
Niemann Pick Canada; Niemann
Pick Switzerland, National
Niemann Pick Disease Foundation
(NNPDF); Niemann Pick UK; Support
of Accelerated Research for
Niemann Pick Type C (SOAR); Together
Strong-NPC and the following
industry supporters: Amicus
Therapeutics; E-Scape Bio; Intra-
Bio; Mallinckrodt Pharmaceuticals;
Orphazyme; and Stride-Bio