Medical Xpress

MAY 16, 2023

That was the case when Thilini Gamage was to carry out one of the studies in her doctoral work with Professor Eirik Frengen at the Institute of Clinical Medicine, University of Oslo. They study gene variation and mutations that cause rare genetic diseases. A mutation is a permanent change in the genetic material.

In-Vitro 98

In-Vitro In-Vivo Genetic Disease Genetics 98

XTalks

MAY 26, 2023

Krystal Biotech’s Vyjuvek has been awarded US Food and Drug Administration (FDA) approval to make it the first topical gene therapy for the treatment of wounds in patients with the rare, often debilitating skin disease dystrophic epidermolysis bullosa (DEB). As a topical treatment, it is also the first readily redosable gene therapy.

Gene Therapy 97

Gene Therapy Gene FDA Approval Dermatology 97

pharmaphorum

AUGUST 1, 2022

Sarepta is pressing forward with a bold plan to file with the FDA for accelerated approval of its gene therapy SRP-9001 for Duchenne muscular dystrophy (DMD) in the next few months, with a view to making it available in sometime around the middle of 2023. The post Sarepta says early filing for DMD gene therapy is back on appeared first on.

Gene Therapy 100

Gene Therapy Gene Trials Genetics 100

pharmaphorum

MAY 6, 2021

Thalassaemia is a severe genetic disease that is characterised by significantly reduced production of functional beta-globin, a component of haemoglobin, the oxygen-carrying protein in the blood. Severely-affected patients need regular blood transfusions to maintain their haemoglobin levels.

Genetic Disease 85

Genetic Disease Protein RNA Doctors 85

The Pharma Data

DECEMBER 3, 2020

Targeted Augmentation of Nuclear Gene Output (TANGO) of SCN1A Reduces Seizures and Rescues Parvalbumin Positive Interneuron Firing Frequency in a Mouse Model of Dravet Syndrome. December 5, 2:00 PM – 3:30 PM; Platform A: Translational Research / Genetics. 4, 2020 14:57 UTC. BEDFORD, Mass.–( Translational Research / 2B.

Medicine 52

Medicine Genetics Clinical Trials Clinical Trials 52

pharmaphorum

SEPTEMBER 9, 2020

Charlie has spent more than 26 years working on the human genome – 22 of which were spent at the Wellcome Sanger Institute, helping to assemble the human genome and trying to understand the function of the genes contained within it. Shortly after that, she started making jackknife movements.

Genome 83

Genome Genomics Genetics Genome Project 83

pharmaphorum

SEPTEMBER 9, 2020

Charlie has spent more than 26 years working on the human genome – 22 of which were spent at the Wellcome Sanger Institute, helping to assemble the human genome and trying to understand the function of the genes contained within it. Shortly after that, she started making jackknife movements.

Genome 66

Genome Genomics Genetics Genome Project 66