article thumbnail

Researchers reverse the in vitro and in vivo effects of the mutation that causes Stormorken syndrome

Medical Xpress

They study gene variation and mutations that cause rare genetic diseases. A mutation is a permanent change in the genetic material. 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.

article thumbnail

Vertex secures FDA clearance for infants’ cystic fibrosis therapy

Pharmaceutical Technology

The approval allows KALYDECO to be used in infants who have at least one mutation in their cystic fibrosis transmembrane conductance regulator (CFTR) gene that is responsive to the therapy, on the basis of clinical and/or in vitro assay results. This cohort showed a safety profile identical to that found in older children and adults.

In-Vitro 246
Insiders

Sign Up for our Newsletter

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

article thumbnail

BMS’s repotrectinib to have FoundationOne genomic sequencing companion diagnostic

Pharmaceutical Technology

FoundationOne CDx is a sequencing-based in vitro diagnostic device that can identify alterations in 324 genes from tumour samples. Individuals that develop lung cancer with no smoking history are genetically distinct from those who develop the cancer with a smoking history.

Genome 130
article thumbnail

Researchers Discover Genetic Errors and Rogue Antibodies in Cases of Severe COVID-19 Infection

XTalks

The research shows that the activity of the immune messenger type 1 interferon (IFN) protein is diminished, either by genetic mutations or an autoimmune attack by neutralizing antibodies against it, in a subset of COVID-19 patients. Related: Low T Cell Counts Observed in COVID-19 Patients. Mutational Errors in COVID-19 Patients.

Antibody 135
article thumbnail

Researchers revive abandoned technique in effort to make artificial human eggs in a test tube

STAT News

Using a common cloning technique, researchers removed the genetic material from one female’s eggs and replaced them with nuclear DNA from the skin cells of another. Then with a novel chemical cocktail, they nudged the eggs to lose half their new sets of chromosomes and fertilized them with mouse sperm. Read the rest…

article thumbnail

A step closer to ‘clinical trial in a dish’ for Alzheimer’s  

Drug Discovery World

Grown in vitro, these cells can provide patient specific human brain models from a large cohort of AD patients – to create a ‘clinical trial in a dish’. sAD has no specific family link and is caused by a combination of genetics, the environment and a person’s lifestyle.

article thumbnail

High risk, high reward – the future of CAR-T therapy in CLL

Pharmaceutical Technology

Autologous CAR-T therapy does not easily lend itself to treating CLL, as it relies on extracting functional T-cells from the patient’s blood and genetically modifying them in vitro. From a clinical perspective, CAR-T therapy may not be appropriate for patients who are typically eligible for cell therapies.

In-Vitro 279