Posts by: Joana Carvalho, PhD

Joana Carvalho, PhD

Joana holds a BSc in Biology, a MSc in Evolutionary and Developmental Biology and a PhD in Biomedical Sciences from Universidade de Lisboa, Portugal. Her work has been focused on the impact of non-canonical Wnt signaling in the collective behavior of endothelial cells — cells that made up the lining of blood vessels — found in the umbilical cord of newborns.

May 8, 2020May 8, 2020

Gene Therapy Trial for Mitochondrial Disease of Retina Found Safe, Can Continue

News

An independent Data Safety Monitoring Board (DSMB) has found GS030, GenSight Biologics’ candidate gene therapy for retinitis pigmentosa, safe and recommended the company’s PIONEER trial continue as planned. PIONEER (NCT03326336) is ... Read more

April 17, 2020April 17, 2020

GenSight Readying to Ask EMA to Approve Gene Therapy for LHON

Leber's hereditary optic neuropathy, News

GenSight Biologics announced it has finished a pre-submission meeting with the European Medicines Agency (EMA), a key step in filing a request for the approval of Lumevoq, its gene therapy for Leber ... Read more

April 10, 2020April 10, 2020

Mitochondria Transplant Could Someday Be Viable Treatment Option, Study Shows

Mitochondrial disease, News

Transplanting mitochondria — the cell compartments responsible for the production of energy in our body — from healthy skeletal muscle cells provides a short-term energy boost in heart cells, a ... Read more

December 20, 2019December 20, 2019

LHON Natural History Study Highlights Improvements in Visual Acuity From Lumevoq Treatment

News

Patients with Leber hereditary optic neuropathy (LHON), a rare genetic mitochondrial disease that causes vision loss, experienced a dramatic and mostly irreversible loss of visual acuity, according to an interim ... Read more

December 6, 2019December 17, 2019

New Mouse Model May Advance Understanding of Mitochondria Protein Production and Dysfunction, Researchers Say

News

A new mouse model may help scientists deepen their knowledge about mitochondria, the cell compartments responsible for the production of energy in the body, as well as their understanding about ... Read more

October 4, 2019October 4, 2019

Mutation in Nuclear Gene Associated with Symptoms of Mitochondrial Disease, Case Report Shows

News

A recent report that describes the case of a teenager with severe symptoms of multiple mitochondrial diseases, contends it may have been caused by a mutation in a gene found ... Read more

September 27, 2019September 27, 2019

GS010 Gene Therapy Continues to Improve Visual Acuity in LHON Patients After Two Years, Trial Data Show

News

GS010, a gene therapy developed by GenSight Biologics, continues to lead to sustained improvements in visual acuity in patients with Leber hereditary optic neuropathy (LHON), a rare genetic mitochondrial disease ... Read more

July 19, 2019July 19, 2019

GenSight Completes Enrollment Early for Phase 3 Trial of GS010 Gene Therapy

News

GenSight Biologics has completed full patient enrollment ahead of schedule for its ongoing Phase 3 trial assessing the safety and efficacy of GS010, the company’s gene therapy designed to improve ... Read more

June 14, 2019June 14, 2019

Symptoms Vary Greatly in People with MT-ATP6 Mutations and Better Tests Needed, Study Says

News

Symptoms vary greatly among people with mitochondrial disease linked to any one of the many mutations evident in the MT-ATP6 gene, a study found, and its researchers call for better tests to ... Read more

May 31, 2019May 31, 2019

Reneo Pharmaceuticals Raises $50M to Support Development of Therapies for Mitochondrial Diseases

News

Reneo Pharmaceuticals has raised $50 million to support the development of therapies for mitochondrial diseases associated with defects in cells’ metabolism and energy production. The company’s fundraising includes contributions from ... Read more