Vanda Pinto, PhD, science writer —

​​Vanda is a biochemist with a PhD in biomedicine from the University of Porto, Portugal. She conducted her postdoctoral research first at the Bristol Medical School, U.K., studying the insulin-PI3K/Akt signaling pathway in diabetic nephropathy, then at the Institute of Molecular Pathology and Immunology of the University of Porto, where her focus was on glycosylation in lupus nephritis and inflammatory bowel disease. She next made the switch to science publishing, handling papers in biochemistry, molecular biology, and immunology.

Articles by Vanda Pinto

Theophylline Enhances Myelin Production in CMT1A Mice

Theophylline, a medication used to treat asthma and other respiratory conditions, promoted myelination — the process by which sheaths of myelin, a fatty substance, are produced around nerves to protect them — in a mouse model of Charcot-Marie-Tooth disease type 1 subtype A (CMT1A), a study shows. Treatment with…

Patient Enrollment Complete for PREMIER Trial of PXT3003

Enrollment into Pharnext’s pivotal Phase 3 PREMIER clinical trial, testing the effectiveness and safety of PXT3003 for people with mild-to-moderate Charcot-Marie-Tooth type 1A (CMT1A), is complete. The study exceeded its target number of participants, recruiting 387 patients in 52 centers across the U.S., Canada, Europe, and Israel. Top-line…

Country Star Alan Jackson to Raise Funds for CMT Research

The CMT Research Foundation is teaming up with Alan Jackson’s “Last Call: One More for the Road Tour” to raise funds that will go toward discovering treatments for Charcot-Marie-Tooth disease (CMT). For every sold ticket, $1 will be donated to the CMT Research Foundation. A group of supporters…

HDAC6 Protein Likely Treatment Target in CMT2D, Study Suggests

Treatment with CKD504, an inhibitor of the protein HDAC6, enhanced the activity of spinal cord neurons genetically engineered to harbor mutations in the GARS1 gene, a study found. Mutations in GARS1, which disrupt nerve signals, cause Charcot-Marie-Tooth disease type 2D (CMT2D). Together with other benefits, these findings highlight CKD504 as…

NFL Biomarker May Be Unsuitable to Measure CMT1A Outcomes

Blood levels of the protein neurofilament light chain (NFL), a biomarker of several neurological disorders, may not be suitable to measure outcomes in patients with Charcot-Marie-Tooth disease type 1A (CMT1A), a recent study suggests. The study, “A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in…

Gene Editing Prevented NfL Protein Accumulation in CMT2E Motor Neurons

The gene-editing technology CRISPR/Cas9 effectively inactivated a specific mutation in the NEFL gene that causes Charcot-Marie-Tooth disease type 2E (CMT2E), a study reports. Correction of this mutation prevented the harmful buildup of neurofilament light chain (NfL) protein in motor neurons — specialized nerve cells that control muscle function —…

New LITAF Gene Mutation, Unusual CMT1C Symptoms Reported in Case

A European man was finally diagnosed with a rare mutation causing Charcot-Marie-Tooth disease type 1C (CMT1C), although his initial symptoms, including weakness of only one arm, were considered uncharacteristic of this disorder, a case report described. The study, “Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new…

CMT, in Costly Error, Can Be Mistaken for Similar Rare Disorder

A sizable number of people at 16 hospitals in three European countries were wrongly diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP) and treated for that disorder, only to learn through later genetic testing that they actually had Charcot–Marie–Tooth disease (CMT), a study reported. Its researchers spotted features specific to CMT…