Ana de Barros, PhD, managing science editor —

Ana holds a PhD in immunology from the University of Lisbon and worked as a postdoctoral researcher at Instituto de Medicina Molecular (iMM) in Lisbon, Portugal. Ana was awarded two FCT fellowships and has won the Portuguese Immunology Society Best Paper and Best Poster award in 2009 and 2010, as well as the CESPU International Research Award in 2010. After leaving the lab to pursue a career in science communication, she served as the director of science communication at iMM Lisbon.

Articles by Ana de Barros

Genomic Vision Extends Collaboration with Quest Diagnostics to Improve SMA Diagnosis

Genomic Vision and Quest Diagnostics have agreed to extend their collaboration focusing on the potential development of new biomarkers to improve genetic diagnosis of spinal muscular atrophy. The partners will accelerate the pace of their efforts to identify new biomarkers with the possibility of detecting SMA “2+0” carrier status, referring to carriers who have two survival motor neuron 1 gene copies on one chromosome and none on the other. The identification of this rare form of mutation would lead to improved sensitivity in SMA screening. This announcement follows previous research by the two companies that demonstrated evidence that this pattern could be detected by molecular combing, a user-friendly technique that allows DNA to be analyzed at the single molecule level. Although healthy parents of a child with SMA carry the SMN1 gene defect, they do not have any symptoms of the disease. A carrier with the 2+0 pattern cannot be distinguished from a noncarrier, and test results may not reliably identify this particular carrier status. Genomic Vision has pioneered a molecular combing system that could potentially detect this pattern and reliably identify carrier status. This test stretches and assembles millions of large DNA fragments in a single step. The resulting DNA is organized in discrete strands, allowing for analysis at the single molecule level. Under the new agreement, Quest will be solely responsible for developing, validating, and offering new lab tests.

Muscular Dystrophy Association to Expand Registry to Cover Seven Diseases

The Muscular Dystrophy Association (MDA) has asked the medical data services company IQVIA to expand its disease registry into a hub of information on seven neuromuscular conditions, including spinal muscular dystrophy (SMA). The repository will include disease information from care providers, genetics data, and patient-reported information. In addition to SMA, the…

NeuroNEXT Accelerates Research in SMA, Other Neurological Diseases

The National Network for Excellence in Neuroscience Clinical Trials  is accelerating the clinical trial process for neurological diseases like spinal muscular atrophy with the expectation of bringing medications to market in less time, with fewer costs and less risks. Clinical studies for neurological diseases are typically long and arduous, taking many years and a lot of money to complete. As such, developing medications to treat these conditions also is long and expensive. With funding from the National Institutes of Health , and leadership from the University of Iowa, NeuroNEXT is a consortium that brings together 25 academic healthcare research institutions nationwide to facilitate and diminish costs associated with clinical trials for neurological diseases. The consortium is designed to facilitate patient recruitment, help control quality and methodological standardization across studies and to assist data-gathering in the most efficient and cost-effective way possible, which already facilitates cross-referencing and comparability of results. The consortium was funded in 2011, but results of its first trial weren't published until December 2017, in Annals of Neurology, which is a large time gap that illustrates just how much time it can take to study neurological diseases. The two-year study, “Natural history of infantile-onset spinal muscular atrophy,” led by researchers at the Ohio State University observed biomarkers that indicate infantile-onset SMA. The trial involved researchers at 15 NeuroNEXT sites and the data collected were used to inform the U.S. Food and Drug Administration (FDA) application for the approval of Spinraza (nusinersen). Looking at the natural history of 26 SMA infants and 27 controls, the data delineated meaningful change in clinical trials in infantile-onset SMA, demonstrating the power and utility of NeuroNEXT to provide “real-world,” prospective natural history data sets and accelerate public and private drug development programs for rare diseases. The gene therapy AVXS-101, being developed by AveXis for SMA, is currently in clinical trials and soon may be available, too. Ultimately the goal is to encourage more clinical trials in neurological disorders, see those trials through to completion, and ascertain if there is enough promise to go forward in drug development. NeuroNEXT focuses exclusively on Phase 2 studies, which means researchers are not looking for a definitive answer to whether a treatment is effective, but are instead seeking to learn more about a potential treatment to decide whether there is enough evidence to justify the cost and complexity of a larger, more definitive Phase 3 trial.

What Are Common Respiratory Problems in Children With SMA?  

It’s known that children with spinal muscular atrophy (SMA) have a number of breathing issues, which are caused by weakened chest muscles. According to the SMA Foundation, these are the most common respiratory problems for children with SMA. MORE: Seven pieces of respiratory equipment needed for a child with SMA  Lung underdevelopment Usually, children’s lungs grow and develop over time. However, children with SMA…

The Breathing Difficulties Children With SMA Face

While most people don’t even think about breathing and how the human body does it, individuals with spinal muscular atrophy (SMA) don’t have that luxury. The normal way the respiratory system functions is fairly simple: according to the SMA Foundation, the intercostal muscles (the ones that exist between the ribs) help the ribcage expand so when the lungs inflate they have…

Cytokinetics Enrolling Second Group of SMA Patients in Phase 2 Trial of CK-2127107

Cytokinetics has begun enrolling a second group of patients for a Phase 2 clinical trial of CK-2127107 as a treatment for spinal muscular atrophy (SMA). The announcement follows an independent Data Monitoring Committee’s review of the therapy’s safety, absorption, distribution, metabolism, and excretion in Cohort 1. The randomized, double-blind, placebo-controlled,…