PerkinElmer Reaches Milestone in the Identification of Newborns at Risk for Genetic Disorders
News Aug 07, 2007
PerkinElmer, Inc. has announced a major milestone in its global efforts to help identify newborns at risk for genetic disorders. The Company has determined that its neonatal screening technology, utilized in laboratories worldwide for more than 20 years, has helped to identify the 100,000th infant at risk for potentially life-threatening diseases, such as Phenylketonuria (PKU), which can have a positive outcome when intervention begins within the first 24 to 36 hours of life.
“Newborn screening for genetic disorders has become one of the most widely accepted procedures in preventative pediatrics, allowing for the early identification and treatment of otherwise devastating disorders,” said Robert F. Friel, President and Chief Operating Officer of PerkinElmer.
“PerkinElmer applauds the efforts of its customers in reaching this key milestone, and remains committed to supporting the global expansion of screening programs to save lives and improve the quality of life for infants with identified disorders,” Friel continued.
PerkinElmer is one of several organizations to support the 2004 report from the American College of Medical Genetics (ACMG) that recommends every baby born in the U.S. be screened for at least 29 metabolic and functional disorders, when if detected early, allow for better treatment and management options, leading to an improved quality of life.
“While we have seen a dramatic increase in the number of serious disorders for which babies in the United States are screened, there is still much room for improvement,” said Dr. Jennifer L. Howse, President of the March of Dimes.
“The March of Dimes is extremely appreciative of the efforts of PerkinElmer to help equip laboratories around the country with the tools and support needed to expand their newborn screening programs. Babies must receive this screening to help ensure that they can go on to lead healthy lives,” Dr. Howse added.
Researchers Discover Mutation That Appears to Protect Against Multiple Aspects of Biological AgingNews
The first genetic mutation that appears to protect against multiple aspects of biological aging in humans has been discovered in an extended family of Old Order Amish living in the vicinity of Berne, Indiana, report Northwestern Medicine scientists.READ MORE
Engineering the Gut Microbiome with 'Good' Bacteria May Help Treat Crohn's DiseaseNews
Researchers have singled out a bacterial enzyme behind an imbalance in the gut microbiome linked to Crohn's disease. Replacement of the offending bacteria with "good" bacteria may offer an effective treatment approach.READ MORE
New Player in Alzheimer's Disease Pathogenesis IdentifiedNews
Using proteomics, microscopic analysis, and functional assays, scientists have shown that a protein called membralin is critical for keeping Alzheimer’s disease pathology in check.READ MORE