Posts by: Ana Pena, PhD

Ana Pena, PhD

Ana is a molecular biologist with a passion for communication and discovery. As a science writer, her goal is to provide readers, in particular patients and healthcare providers, with clear and quality information about the latest medical advances. Ana holds a Ph.D. in Biomedical Sciences from the University of Lisbon, Portugal, where she specialized in infectious diseases, epigenetics, and gene expression.

March 11, 2020March 11, 2020

Scoliosis Surgery in SMA Children Linked to Permanent Motor Skill Loss, Study Finds

News

Surgery to treat scoliosis may permanently limit the ability of children with spinal muscle atrophy (SMA) type 2 and 3 to perform certain movements, with patients in better physical shape ... Read more

February 26, 2020February 26, 2020

Lack of SMN Protein in Muscles May Also Directly Contribute to SMA, Lab Study Reports

News

Loss of survival motor neuron (SMN) protein in muscles may contribute directly to the development of spinal muscular atrophy (SMA), in addition to its lack in motor neurons, an early study ... Read more

February 14, 2020February 14, 2020

Immediate Treatment Advised for Newborns with 4 Copies of SMN2 in Updated Guidelines

News

Newborns diagnosed with spinal muscular atrophy (SMA) via newborn screening (NBS) and who carry four copies of the SMN2 gene should start treatment immediately, just as those with two or ... Read more

February 10, 2020February 10, 2020

Targeting Defects in Cell’s ‘Skeleton’ May Restore Cellular Function in SMA, Early Study Shows

News

Low levels of the survival motor neuron (SMN) protein — the major root cause of spinal muscular atrophy (SMA) — may lead to defects in the “skeleton” of cells, which ... Read more

February 5, 2020February 5, 2020

microRNAs Possible Blood Markers of Children’s Response to SMA Therapies, Study Suggests

News

Muscle-specific microRNAs, small DNA-related molecules detectable in blood tests, may be biomarkers of disease progression and response to therapy in children with spinal muscular atrophy (SMA), a small study suggests. ... Read more

February 3, 2020February 3, 2020

R-Roscovitine Prolongs Survival, Restores Neuron-Muscle Communication in SMA Mice, Study Reports

News

R-Roscovitine, a small molecule that promotes calcium entry in nerve cells, restored neuron-muscle communication, reduced the loss of motor neurons, and prolonged the survival of mice with spinal muscular atrophy ... Read more

January 31, 2020January 31, 2020

Management of Swallowing Problems Should be Tailored for Each Child With SMA Type 1, Small Study Suggests

News

Because babies with type 1 spinal muscular atrophy (SMA) develop serious swallowing problems at different ages, the decision to switch from oral to tube feeding should be tailored for each ... Read more

January 17, 2020January 27, 2020

Magnetic Rods May Be Alternative to Correct Scoliosis in Children With SMA, Study Suggests

News

Spine surgery using magnetically controlled growing rods (MCGR) may be an option to correct spinal deformity, or scoliosis, in young children with spinal muscular atrophy (SMA) and avoid the need ... Read more

December 13, 2019January 27, 2020

Adding Cancer Medicine to Spinraza Boosts SMN Production, Early Study Finds

News

Combining Spinraza with low-dose panobinostat — the active substance in an approved treatment for a blood cancer — may amplify Spinraza’s effectiveness, increasing the production of the survival motor neuron (SMN) ... Read more

November 4, 2019November 17, 2019

MRI Fiber Tracking May Be Potential Biomarker of SMA Course, Response to Therapy, Study Suggests

News

A type of magnetic resonance imaging (MRI) called diffusion tensor imaging (DTI) allows unique tracking of nerve fibers and could be used to detail changes in the spinal nerve fibers ... Read more