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 98

Genetic Disease Protein RNA Doctors 98

XTalks

MAY 26, 2023

DEB patients are also at an increased risk of aggressive skin cancer.DEB usually presents at birth and is caused by one or more mutations in the COL7A1 gene, which encodes type VII collagen (COL7), an important protein that helps connect, strengthen and stabilize the outer and middle layers of the skin.

Gene Therapy 97

Gene Therapy Gene FDA Approval Dermatology 97

pharmaphorum

AUGUST 1, 2022

Sarepta’s gene therapy – like rivals from Pfizer and Solid Biosciences – codes for a shortened form of the dystrophin protein that is deficient in patients with the X-linked muscle-wasting disease, which occurs primarily in males.

Gene Therapy 105

Gene Therapy Gene Trials Genetics 105

pharmaphorum

SEPTEMBER 9, 2020

Doctors were able to control the seizures, and Charlie’s daughter started to progress normally again, but a year and a half later she had another serious seizure at night. Shortly after that, she started making jackknife movements. Everything the 100,000 Genomes Project does has to be rubber-stamped by the patients”.

Genome 87

Genome Genomics Genetics Genome Project 87

pharmaphorum

SEPTEMBER 9, 2020

Doctors were able to control the seizures, and Charlie’s daughter started to progress normally again, but a year and a half later she had another serious seizure at night. Shortly after that, she started making jackknife movements. Everything the 100,000 Genomes Project does has to be rubber-stamped by the patients”.

Genome 76

Genome Genomics Genetics Genome Project 76

The Pharma Data

DECEMBER 3, 2020

Stoke believes that STK-001, a proprietary antisense oligonucleotide (ASO), has the potential to be the first disease-modifying therapy to address the genetic cause of Dravet syndrome. protein expression by leveraging the non-mutant (wild-type) copy of the SCN1A gene to restore physiological Na V 1.1

Medicine 52

Medicine Genetics Clinical Trials Clinical Trials 52