XTalks

AUGUST 6, 2020

TSC is a rare genetic disease that affects approximately 1 in 6,000 people. Defects in hamartin or tuberin lead to a loss of regulation of mTOR, resulting in aberrant differentiation and development, which causes the generation of enlarged cells, as seen in TSC brain lesions.

FDA Approval 64

FDA Approval Protein Containment Genetic Disease 64

XTalks

MAY 12, 2023

The MeCP2 protein plays a crucial role in regulating the activity of genes involved in brain development. What’s been shown in mouse models of Rett syndrome which also have the genetic disease, is that trofinetide helps strengthen those connections between the neurons. Daybue, also called trofinetide, is a tripeptide.

FDA Approval 97

FDA Approval Genetics Trials Drugs 97

Drug Discovery World

JULY 11, 2022

David Lewandowski, Business Director of Cell & Gene Therapy at Azenta Life Sciences, explains how efficient sample management can help to work efficiently and bring therapies to market faster. As the field matures and the risks are better understood, regulators continue to streamline duplicative and burdensome oversight efforts 5.

Gene Therapy 52

Gene Therapy Gene Development Production 52

XTalks

SEPTEMBER 17, 2020

In rare disease trials, it’s not always feasible to choose clinically-relevant endpoints to measure the efficacy of a new therapeutic. Patients with this disease have a very high level of LDL-C, which increases their risk of coronary artery disease, including heart attack, stroke and atherosclerosis.

Trials 98

Trials Gene Hormones Clinical Trials 98

XTalks

MAY 4, 2021

Researchers at the University of California San Francisco (UCSF) and the Whitehead Institute have developed a novel CRISPR-based tool called “CRISPRoff” that can switch off genes in human cells through epigenetic editing without altering the genetic sequence itself.

DNA 98

DNA Gene Gene Silencing Genome 98

Drug Discovery World

APRIL 30, 2024

In preclinical mice studies, the teams discovered that mRNA could correct a rare genetic liver disease known as argininosuccinic aciduria, which affects how the body breaks down protein and which can lead to high levels of ammonia in the blood. We believe it can now do the same for rare diseases.” “We J Biomed Sci 2023;30;84.

RNA 52

RNA Protein Vaccination Vaccine 52

Drug Discovery World

MARCH 6, 2024

Guiding neurological drug discovery and development to success The 20 years since the Human Genome Project has seen transformational advances in the molecular understanding of cancers and rare genetic diseases, leading to genetically informed, personalised selection of therapies and massively improved outcomes for many patients.

Genome 64

Genome Genomics Clinical Trials Clinical Trials 64

XTalks

MAY 4, 2021

Researchers at the University of California San Francisco (UCSF) and the Whitehead Institute have developed a novel CRISPR-based tool called “CRISPRoff” that can switch off genes in human cells without editing the genetic sequence itself. These modifications regulate gene expression without altering the sequence or structure of DNA.

DNA 52

DNA Gene Gene Silencing Genome 52

XTalks

OCTOBER 1, 2020

Sooter has also found success in industry, leading and bringing together the work of different teams of researchers at NeuBase to help drive the company’s goal of developing cures and treatments for genetic diseases, including Huntington’s Disease. Funding in the Life Science Industry vs. Academia.

Scientist 52

Scientist In-Vitro Research Life Science 52