Ana is a molecular biologist with a passion for discovery and communication. As a science writer, she looks for connecting the public, 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.
Nine previously unknown mutations in the SBF2 gene were found to cause an extremely rare type of Charcot-Marie-Tooth (CMT) disease, called CMT4B2, in seven families. The data expands the available ... Read more
Regenacy Pharmaceuticals is partnering with the Charcot-Marie-Tooth Association (CMTA) to help develop the investigative therapy ricolinostat and evaluate its potential for Charcot-Marie-Tooth (CMT) in animal models. The collaboration is expected to ... Read more
Acceleron’s therapy candidate ACE-083 was seen to improve total and contractile muscle volume in patients with Charcot-Marie-Tooth (CMT) disease in preliminary results from a Phase 2 trial. The study is still ... Read more
Mutations in DHTKD1, a recently discovered cause of a Charcot-Marie-Tooth (CMT) type 2 subtype, can lead to the disease through a mechanism involving problems with cellular metabolism, insulin release, and overproduction ... Read more
A new study has evaluated and identified the best tests to use as outcome measures, which help doctors track patient progress or deterioration, for those with Charcot-Marie-Tooth disease type ... Read more
Charcot-Marie-Tooth (CMT) disease type 4C is the most common recessive form of the disease in Norway. Researchers, looking at all known Norwegian patients with CMT4C, also found six new mutations ... Read more