Quest Magazine

MDA and ALSA Urge FDA to Take Action on Groundbreaking ALS Hearing

The Muscular Dystrophy Association and The ALS Association (ALSA) submitted a joint comment to the U.S. Food and Drug Administration (FDA) today, commending and thanking the agency for convening its first-ever ALS public hearing on Feb.

SMA Antisense Drug Shows Safety, Tolerability in Phase 1 Trial

An experimental drug designed to treat the underlying molecular defect in spinal muscular atrophy (SMA) has shown encouraging results in a phase 1 trial.

DMD, BMD: Combining Gene Therapy and Stem Cell Transplantation

A therapeutic strategy that combines gene therapy and stem cell transplantation has shown encouraging results in mice with a disorder mimicking Duchenne muscular dystrophy (DMD).

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.

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