Quest Magazine

MDA Board Chair Honored for Pioneering Work in Newborn Screening

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.

Pompe Disease, DMD: Newborn Screening Proposed

Proposals exploring the feasibility and advisability of implementating newborn screening for two disorders in MDA's program — Duchenne muscular dystrophy and Pompe disease— were presented to a federal advisory committee in a "virtual" meeting Jan. 31 and Feb. 1, 2013.

An ALS Biomarker? Brain Imaging Technique Pinpoints ALS, Disability

Advances in technology have led to greater sensitivity in imaging techniques, increasing scientists' ability to see into the brain and spinal cord. Now, a research team reports that a technique called magnetic resonance spectroscopic imaging (MRSI) can distinguish people with amyotrophic lateral sclerosis (ALS)  from people without the disease.

SMA Research Briefs: Gene Therapy, New SMA Mouse

Spinal muscular atrophy (SMA) is a disease in which nerve cells that control muscles (motor neurons) in the spinal cord die, causing progressive weakness in the voluntary muscles. Recent research news includes advances in delivery methods for gene therapy treatment of SMA, and creation of a new mouse model that could help scientists better understand and develop treatments for the disease.   

Registry Seeks Participants with Congenital Muscle Disorders

An international patientregistry (database) is gathering information about children and adults with any form of congenital muscular dystrophy (CMD), a congenital myasthenic syndrome or a congenital myopathy (congenital muscle disease), with the goals of promoting research and improving care in these disorders.

ALS Risk Lower in American Indians, Alaska Natives

The number of new cases of amyotrophic lateral sclerosis (ALS) identified each year (incidence) and the number of people living with the disease (prevalence) appears to be lower in American Indians and Alaska Natives than in white populations.

Further studies are needed to determine the reason for these differences, but researchers suggest that nonwhite populations may have different genetic or environmental risks for ALS.

New Guidelines on Genetic Testing in Children

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 children.

Catena for FA To Be Discontinued in Canada

Idebenone (under the brand name Catena) in July 2008 received conditional market approval in Canada for the treatment of Friedreich's ataxia (FA). Now, based on additional data that fails to confirm that treatment with Catena is beneficial in FA, Santhera Pharmaceuticals has announced it will discontinue sales of the drug April 30, 2013.

Researchers Tweak Experimental Therapy for MMD1

Scientists at the biopharmaceutical company Genzyme, working with mice, say they have modified and improved an existing experimental strategy to treat type 1 myotonic muscular dystrophy (MMD1, also known as DM1).

One Simple Thing You Can Do for Rare Disease Day 2013

In the United States, a disease or disorder is defined as “rare” when it affects fewer than 200,000 Americans at any given time; in Europe, when it affects less than one in 2,000 people.

Clearly, we’re talking about very small numbers of people. But put them all together, and the numbers tell a different story. More than 6,000 rare diseases affect more than 60 million people in Europe and the U.S. alone — some 100 million people worldwide.

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