Newborn Screening News and Research

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Ohio scientists demonstrate existence of effective technology for nationwide newborn screening of SMA

Scientists in Ohio studying Spinal Muscular Atrophy (SMA) have concluded that the technology now exists to carry out nationwide screening of newborn children and pregnant mothers. The study, published in the American Journal of Medical Genetics, reveals that effective screening may allow parents to find proactive treatments before the symptoms become irreversible.

7 May 2010

Novel test may help identify newborns with fragile X syndrome

A newly developed test appears highly accurate in identifying newborns with fragile X syndrome—the most common inherited cause of cognitive impairment—as well as identifying couples who are carriers of the causative gene, reports a study in the March issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics.

25 Mar 2010

Committee recommends inclusion of genetic diseases in newborn screening program

The experts who make recommendations for genetic disease screening in newborns face a challenging task: To make conclusions based on the most authoritative available evidence, while considering gaps in the research on such rare conditions, as well as their human impact. An overview of the steps followed by the expert panels tasked with making these recommendations is presented in a special section of the current issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics.

25 Mar 2010

March of Dimes to receive 2010 Paul G. Rogers Distinguished Organization Advocacy Award

March of Dimes will receive Research!America's 2010 Paul G. Rogers Distinguished Organization Advocacy Award. The award recognizes March of Dimes' decades of successful advocacy for maternal and child health research and services.

10 Mar 2010

Reversing protein deficiency through gene therapy can improve SMA

Reversing a protein deficiency through gene therapy can correct motor function, restore nerve signals and improve survival in mice that serve as a model for the lethal childhood disorder spinal muscular atrophy, new research shows.

1 Mar 2010

Six states to study sickle cell disease and thalassemias in national pilot project

Medical researchers are developing a new surveillance system to determine the number of patients diagnosed with a family of inherited blood disorders known as hemoglobinopathies, including sickle cell disease, thalassemias, and hemoglobin E disease.

19 Feb 2010

MCADD screening is expensive but offers immense health benefits

Newborn screening for a metabolic disorder could lead to false positives -- adding stress to parents, costing money and possibly subjecting a baby to unnecessary follow-up treatment and dietary restrictions.

2 Feb 2010

Jeffrey Modell Foundation urges government to implement SCID screening for all newborns

Vicki and Fred Modell, co-founders of the Jeffrey Modell Foundation, today called upon governors, state public health officials, and legislators, in all states, to implement screening of newborns with Severe Combined Immune Deficiency (SCID).

28 Jan 2010

CLSI’s document provides revised guidelines for screening cystic fibrosis

Clinical and Laboratory Standards Institute (CLSI) recently published Sweat Testing: Sample Collection and Quantitative Chloride Analysis; Approved Guideline—Third Edition (C34-A3). This document addresses appropriate methods of collection and analysis, quality control, and the evaluation and reporting of sweat test results for the diagnosis of cystic fibrosis.

7 Jan 2010

CLSI and APHL announce 2010 educational teleconferences

Clinical and Laboratory Standards Institute (CLSI) and Association of Public Health Laboratories (APHL) recently announced the January–June 2010 schedule of educational teleconferences for clinical, public health, and veterinary laboratories.

30 Dec 2009

Call for every health insurance plan to cover Phenylketonuria

Credit Senators John Kerry (D-MA) and Robert Casey (D-PA) with a significant contribution to the health care debate: a bill ends a glaring disparity in the way Americans living with Phenylketonuria (PKU) control their potentially devastating disease, and the way others living with serious chronic conditions are treated. "The Medical Foods Equity Act of 2009" aims to save affected families thousands of dollars in out-of-pocket costs, cut long-term costs for the entire system, and offer 20,000 Americans a better shot at healthy, happy, and productive lives.

5 Dec 2009

Guideline for newborn screening of preterm, low birth weight, sick and at-risk newborns published

Infants in special care baby units or neonatal intensive care units are at greater risk for missed or incomplete newborn screening than normal newborns. To minimize the risk of missing or delaying a diagnosis, Clinical and Laboratory Standards Institute (CLSI) recently published a new document, "Newborn Screening for Preterm, Low Birth Weight, and Sick Newborns; Approved Guideline" (I/LA31-A).

4 Nov 2009

SCID infants who receive early bone marrow transplants are likely to have fewer complications

Mention the words "bubble boy" and many will recall David Vetter, the kid with big eyes and a thick thatch of dark hair who died 25 years ago after spending almost the entire 12 years of his life in a germ-free, plastic bubble. David was born with severe combined immune deficiency, or SCID, a condition that robbed him of an immune system.

14 Oct 2009

NIH funds the University of California's consortium for immune disorder research

The University of California, San Francisco has been designated to lead a new consortium that will study a group of severe immune disorders known as primary immunodeficiencies and aims to improve treatment for these often life-threatening diseases. The Primary Immune Deficiency Treatment Consortium comprises 13 centers throughout the United States and has a $6.25 million funding commitment over five years from the National Institutes of Health.

13 Oct 2009

$4.8 million grant from CDC to establish Indiana Center of Excellence in Public Health Informatics

Researchers from Indiana University and the Regenstrief Institute, with its world-renowned medical informatics research group and regional health information exchange, have been awarded a $4.8 million grant by the Centers for Disease Control and Prevention to create the Indiana Center of Excellence in Public Health Informatics, one of only four such centers in the nation.

7 Oct 2009

Newborn screening website to support quality health care for children

The National Library of Medicine (NLM) today launched the Newborn Screening Coding and Terminology Guide (http://newbornscreeningcodes.nlm.nih.gov), an important step toward efficient electronic exchange of standard newborn screening data.

16 Sep 2009

FDA approves new xTAG Cystic Fibrosis 39 Kit v2 from Luminex

Luminex Corporation (NASDAQ: LMNX), the worldwide leader in multiplexed solutions, today announced that it has received 510(k) clearance from the U.S. Food and Drug Administration (FDA) for a new cystic fibrosis (CF) test: the xTAG® Cystic Fibrosis 39 Kit v2.

From Thermo Fisher Scientific Inc. 4 Sep 2009

Discovery of new genetic immune disorder in children

Your immune system plays an important function in your health - it protects you against viruses, bacteria, and other toxins that can cause disease. In autoinflammatory diseases, however, the immune system goes awry, causing unprovoked and dangerous inflammation.

4 Jun 2009

Muscular dystrophy diagnosis delayed in boys

Boys show signs of Duchenne Muscular Dystrophy (DMD) for 2 ½ years before they obtain a diagnosis and disease-specific treatment, about the same length of delay children have endured for the past 20 years despite advances in genetic testing and treatment.

11 May 2009

Childhood hearing loss more prevalent among Hispanic-American, low-income households

A new review of medical databases shows that neonatal hearing loss, already one of the most common birth disorders in the United States, is especially prevalent among Hispanic-Americans and those from low-income households, according to the April 2009 issue of Otolaryngology-Head and Neck Surgery.

1 Apr 2009