Patricia Inacio, PhD, science writer —

Patricia holds her PhD in cell biology from the University Nova de Lisboa, Portugal, and has served as an author on several research projects and fellowships, as well as major grant applications for European agencies. She also served as a PhD student research assistant in the Department of Microbiology & Immunology, Columbia University, New York, for which she was awarded a Luso-American Development Foundation (FLAD) fellowship.

Articles by Patricia Inacio

PTC’s Spinal Muscular Atrophy Phase 1b/2a Trial Begins

PTC Therapeutics, Inc. announced that their collaborative program with Roche and the SMA Foundation (SMAF) for Spinal Muscular Atrophy (SMA) has begun its second phase with adult and children patients, as part of the Phase 1b/2a study. The program is evaluating the safety and tolerability of an under-investigation drug – survival of…

Hypertonia Identified in Study As Spinal Muscular Atrophy Symptom

A study entitled “Patient with spinal muscular atrophy with respiratory distress type 1 presenting initially with hypertonia” reports a case study of a two-month-old boy with spinal muscular atrophy with respiratory distress type 1 that displayed hypertonia as an initial symptom and progressing to bone tissue compromise, a new symptom that has…

Key Spinal Muscular Atrophy Biomarkers Discovered

A study entitled “Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy” suggests Calreticulin and GRP75/Mortalin as new protein biomarkers for spinal muscular atrophy progression. The results were published in October 2013 issue of Genome Medicine. Spinal muscular atrophy (SMA)…

C9orf72 Gene Role Analyzed in Spinal Muscular Atrophy

A recent study entitled “Analysis of the C9orf72 gene in spinal muscular atrophy patients” published in the Amyotrophic Lateral Sclerosis and Frontotemporal Degenerations journal shows no association between a ALS  hexanucleotide repeat in the C9orf72 gene with SMA phenotype. Two of the most common motor neuron diseases…

Newly-Identified miR-183/mTOR Pathway Contributes to SMA

A recent study entitled “SMN regulates axonal local translation via miR-183/mTOR pathway” and published in Human Molecular Genetics journal identifies a new SMN regulated target – the miR-183/mTOR pathway – that contributes to Spinal Muscular Atrophy. Spinal Muscular Atrophy (SMA) is caused by mutations in…