Author Archives: Patricia Inacio PhD

Next-generation DNA Sequencing Efficiently Identifies Novel Mutation Causing Junctional EB in Newborn

Next-generation sequencing ­­­­— a technique that reads DNA sequences much faster and cheaper than standard approaches ­­­­— successfully identified a novel mutation in the LAMB3 gene in a newborn with junctional epidermolysis bullosa (EB), a case study reports. The study, “Targeted next-generation sequencing identifies a novel mutation of LAMB3 in…

Researchers Identify a Blood Biomarker for Epidermolysis Bullosa-associated Squamous Cell Carcinoma

Using a simple blood sample may be sufficient to detect a biomarker for skin cancer in epidermolysis bullosa patients, a new study suggests. This is because the cancer-specific variant of the SLCO1B3 gene is found exclusively in extracellular vesicles detected in blood circulation. The study reporting the findings is titled “Extracellular Vesicles as…

Fibroblast Skin Injections Show Promise in Healing Wounds in Dystrophic Epidermolysis Bullosa Patients, Study Finds

Injecting fibroblasts directly into a wound led to higher rates of healing and complete closure than other more common methods in patients with recessive dystrophic epidermolysis bullosa (RDEB), a severe form of epidermolysis bullosa, researchers found. Findings were reported in the study, “Cultured allogeneic fibroblast injection versus…

Abeona’s Gene Therapy EB-101 Receives FDA’s Regenerative Medicine Advanced Therapy Designation

Abeona Therapeutics‘ EB-101, a gene therapy in development for patients with recessive dystrophic epidermolysis bullosa (RDEB), has received the regenerative medicine advanced therapy (RMAT) designation by the U.S. Food and Drug Administration (FDA). The RMAT designation is attributed to promising “regenerative” therapies — cell therapies, tissue engineering, or cell and…