Posts by: Joana Fernandes, PhD

Joana Fernandes, PhD

Joana brings more than 8 years of academic research and experience as well as Scientific writing and editing to her role as a Science and Research writer. She also served as a Postdoctoral Researcher at the Center for Neuroscience and Cell Biology in Coimbra, Portugal, where she also received her PhD in Health Science and Technologies, with a specialty in Molecular and Cellular Biology.

June 29, 2017

Hearing Loss in Gaucher Disease Type 1 Patient Improved with Cochlear Implants

News

A young boy with Gaucher disease type 1 and hearing loss improved his hearing after receiving cochlear implants in both ears. A cochlear implant is an electronic medical device that ... Read more

May 18, 2017

Earlier Diagnosis of Gaucher in Children Reduces Incidence of Severe Disease, Study Says

News

The early diagnosis of children with Gaucher disease eligible for enzyme replacement therapy (ERT) helps decrease the incidence of severe complications and allows patients to have improved development, according to a ... Read more

April 18, 2017

Heart-related Gaucher Case Shows Importance of Early Diagnosis, Doctors Say

News

The death of a 15-year-old boy with an aggressive form of heart-related Gaucher disease underscores the importance of early diagnosis of the condition, physicians said. Their case study of the ... Read more

April 11, 2017April 11, 2017

FDA Approves 23andMe Genetic Test for Gaucher Disease Risk

News

The U.S. Food and Drug Administration (FDA) will now let Mountain View, Calif.-based 23andMe market its $199 genetic tests to adults who want to know their risk of Gaucher disease and nine other ... Read more

April 6, 2017

Researchers Find Evidence of How GBA1 and GBA2 Genes Contribute to Gaucher Disease

News

Researchers have identified useful insights into the molecular workings underlying Gaucher disease that may reveal promising new targets for new therapeutic strategies. The study, “Identification Of A Feedback Loop Involving Beta-Glucosidase ... Read more

January 24, 2017

Combination of Zavesca and Enzyme Replacement Therapy Improved Neurological Symptoms in Child with Gaucher Disease

News

Combining oral Zavesca (miglustat) with intravenous enzyme replacement therapy (ERT) may prevent neurological problems in patients with neuronopathic Gaucher disease, a case study suggests. The research, “Combination Therapy In A ... Read more

November 17, 2016November 17, 2016

Switching to Zavesca Treatment Improved Gaucher Disease Patient’s Symptoms in Case Study

News

A man with type 1 Gaucher disease benefited after switching treatments to Zavesca (miglustat) from Cerezyme (imiglucerase), according to a case study. The report, “Successful Switch From Enzyme Replacement Therapy To ... Read more

November 15, 2016

MRI Allows Reliable Identification of Bone Lesions In Gaucher Patients

News

Magnetic resonance imaging (MRI) can be a resourceful tool to identify bone lesions in Gaucher disease (GD) patients, according to a new study. The research paper, “The Utility Of Magnetic ... Read more

October 20, 2016

Animal Study Shows Gaucher Disease Linked to Progressive Neurological, Behavioral Changes

News

Understanding the progressive changes associated with Gaucher disease (GD) may provide useful information to develop more effective therapies. In recent research, scientists at Cincinnati Children’s Hospital Medical Center used mice to ... Read more

October 18, 2016October 18, 2016

Gaucher Patients on VPRIV Can Safely Switch to Cerdelga or Cerezyme, Study Finds

News

Patients with type 1 Gaucher disease being treated with VPRIV (velaglucerase alfa) can safely transition to Cerdelga (eliglustat) or Cerezyme (imiglucerase) and maintain clinical stability, according to a new study that draws ... Read more