Motor Neuron Disease is Leading Cause of Death for Infants
WESTBOROUGH, Mass., April 14 /PRNewswire-FirstCall/ -- Genzyme
Genetics, a business unit of Genzyme Corporation (Nasdaq: GENZ), announced
today that it is the first national laboratory specializing in reproductive
testing to provide population carrier and prenatal diagnostic testing for
spinal muscular atrophy (SMA), the most common inherited cause of infant
mortality. This test will enable couples who are planning a pregnancy, or
who are already pregnant, to determine if they are carriers and at risk of
having a baby with SMA.
"With no cure currently available, the best method for preventing SMA
is carrier testing," said Deborah Heine, Executive Director of the Claire
Altman Heine Foundation, a nonprofit organization devoted to promoting
pan-ethnic SMA carrier screening. "The availability of this test will now
allow individuals and couples of childbearing age to make more informed
reproductive decisions regarding the risk of SMA and, hopefully, prevent
the suffering of losing a child to this devastating disease."
Deborah and Chris Heine lost their daughter, Claire, to SMA at the age
of 9 months. The Heines were not offered SMA carrier screening during a
pre-conception consultation and have worked since that time to implement
pan-ethnic SMA carrier screening.
The Genzyme Genetics SMA test offers results in approximately 7 to 11
days and is expected to have an approximately 94 percent detection rate of
carriers overall and approximately the same detection rate for the most
common and severe types of SMA in affected fetuses. SMA is characterized by
progressive muscle degeneration of motor neurons, resulting in severe
muscle weakness. In 60-70 percent of cases, children with SMA die from
respiratory failure by age two.
Greater than 94% of SMA carriers have a deletion of one SMN1 gene.
Genzyme's new test utilizes quantitative PCR (polymerase chain reaction), a
technology that can determine the number of SMN1 genes. An individual with
one SMN1 gene is a carrier of SMA; a fetus with no SMN1 genes will be
affected with SMA. SMA is caused when both parents have only one SMN1 gene.
Approximately one in 41 people is a carrier of the SMA-causing gene,
resulting in an incidence rate of 1 in 6,000-10,000 births. If both parents
are found to be carriers, prenatal diagnosis by chorionic villi sampling or
amniocentesis is available.
"Carriers of SMA have no symptoms of the disease and rarely have a
family history of SMA," says Stirling M. Puck, M.D., of Genzyme Genetics.
"Therefore, carrier screening for this disease should be widely available
to ensure people are aware of their chances of having a child with SMA.
Advancements in technology have led to the ability to detect approximately
94 percent of carriers, and then to offer prenatal testing to at-risk
parents; these advancements will help couples planning a pregnancy make
informed decisions."
The rights to perform SMN1 testing are provided under license from
Athena Diagnostics, part of Thermo Fisher Scientific Inc.
About SMA
SMA is an autosomal recessive disease which causes severe weakness in
the muscles that control breathing, swallowing, head and neck control,
walking and crawling. After cystic fibrosis, which is routinely screened
for in the general population, SMA is the second most common lethal
autosomal recessive disease in the United States. Other examples of
autosomal recessive conditions include sickle cell anemia, and Tay-Sachs
disease.
About Genzyme Genetics
Genzyme Genetics is a leading, nationwide provider of high quality
genetic testing and genetic counseling services for physicians and their
patients. With laboratories and counseling facilities located across the
U.S., Genzyme Genetics offers extensive reproductive and cancer testing
services, supported by innovative technology and a commitment to quality
service and trusted information. Genzyme Genetics is a business unit of
Genzyme Corporation.
In addition to SMA carrier testing and prenatal diagnosis, Genzyme
offers a broad carrier test menu including cystic fibrosis testing with 97
mutations, fragile X testing and 11 carrier tests for the Ashkenazi Jewish
population; an industry-leading cytogenetics program; an extensive maternal
serum screening program (which includes first trimester, integrated and
second trimester screening); and an innovative infertility testing program.
About Genzyme
One of the world's leading biotechnology companies, Genzyme is
dedicated to making a major positive impact on the lives of people with
serious diseases. Since 1981, the company has grown from a small start-up
to a diversified enterprise with more than 10,000 employees in locations
spanning the globe and 2007 revenues of $3.8 billion. In 2007, Genzyme was
chosen to receive the National Medal of Technology, the highest honor
awarded by the President of the United States for technological innovation.
With many established products and services helping patients in nearly
90 countries, Genzyme is a leader in the effort to develop and apply the
most advanced technologies in the life sciences. The company's products and
services are focused on rare inherited disorders, kidney disease,
orthopaedics, cancer, transplant, and diagnostic testing. Genzyme's
commitment to innovation continues today with a substantial development
program focused on these fields, as well as immune disease, infectious
disease, and other areas of unmet medical need.
Genzyme's press releases and other company information are available at
http://www.genzyme.com and by calling Genzyme's investor information line
at 1-800-905-4369 within the United States or 1-678-999-4572 outside the
United States.
Media Contact: Investor Contact:
Sarah Millerick Leah Rosenberger
(617) 768-6438 (617) 768-6602
SOURCE Genzyme Corporation
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Related links:
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CONTACT:
Media, Sarah Millerick, +1-617-768-6438, or
Investors, Leah Rosenberger, +1-617-768-6602, both of Genzyme
Corporation
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