newborn screening

News and updates from the MDA community

posted on January 9, 2014 - 9:07am
Featured in this issue: Muscle Walk in full swing across the country; anti-bullying advocate with Friedreich's ataxia publishes new book; MDA Clinical Conference to be held in March; MDA Team Momentum hits the ground running; Shamrocks program raises millions for the cause; MDA Art Collection achieves milestone; accessible playground database now available; Muscular Dystrophy Coordinating...

Geneticist R. Rodney Howell, chairman of MDA's Board of Directors, testified before a U.S. Senate subcommittee Sept. 26 to support continued funding for newborn screening

posted on September 26, 2013 - 11:16am
R. Rodney Howell, a pediatrician and medical geneticist who chairs MDA's Board of Directors, advocated for passage of the Newborn Screening Saves Lives Reauthorization Act of 2013 (S. 1417) before a U.S. Senate subcommittee on Thursday, Sept. 26. Howell emphasized that

As the search continues for SMA treatments and a cure, MDA is working to help those living with the disease today

posted on August 29, 2013 - 10:37am
MDA is working to improve life span and quality of life for people with spinal muscular atrophy (SMA). Those efforts include the creation of the MDA clinical neuromuscular disease registry, promotion of newborn screening for SMA and publication of a family friendly version of SMA standard of care guidelines. MDA clinical neuromuscular disease registry

Federal committee votes to add the enzyme deficiency disorder to the list of recommended conditions for which states screen newborns

posted on May 17, 2013 - 2:45pm
The Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) today voted to add Pompe disease (acid maltase deficiency) to a list of diseases that it recommends states screen for in newborns.

R. Rodney Howell has received a March of Dimes award for helping ‘give every baby a chance at a healthy start in life’

posted on March 20, 2013 - 4:00pm
R. Rodney Howell — respected geneticist, pediatrician and chairman of the MDA Board of Directors — has been honored by the March of Dimes for playing a key role in developing the uniform panel of serious disorders for which nearly every baby in the United States now is tested.

Proposals for implementation of widespread screening of newborn babies for Pompe disease and Duchenne muscular dystrophy were delivered to a federal advisory committee

posted on March 20, 2013 - 12:07pm
Update July 22, 2013: This story was updated to reflect that, in April 2013, the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) was chartered and now fulfills the functions previously undertaken by the Secretary's Advisory Commitee on Heritable Disorders in Newborns and Children (SACHDNC).

The AAP and the ACMG have issued recommendations on updated technologies and new uses of genetic testing and screening

posted on March 6, 2013 - 2:15pm
As scientists learn more about what our DNA can tell us about health and disease, public interest has intensified and genetic testing has become increasingly common. In response, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) have released new guidelines to address updated technologies and new uses of genetic testing and screening in...

We need your help

posted on July 1, 2012 - 3:00pm
QUEST Vol. 19, No. 3
In describing our MDA community, I’ve often referred to us as being much like a human body. Our sponsors and volunteers are our backbone, and the families we serve are our heart. Without our sponsors and volunteers, we would collapse; without our heart, we would cease to exist. MDA is continuously measuring the pulse of our MDA community and at all times is centered on the heart of our effort —...