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

Delveinsight

FEBRUARY 11, 2021

Verily, Google’s life-science-focused sibling company and Janssen will also seek to tap into the data generated by people during their everyday lives to seek for any previous health-related signals in the two years leading up to the point they consented to participate in the study as well as in the two years after.

Gene Therapy 52

Gene Therapy Gene Immune Response In-Vivo 52

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

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

JANUARY 3, 2025

FCS also severely impacts quality of life, causing chronic fatigue and recurrent stomach pain. Tryngolza works by targeting a protein in the liver, apoC-III, which regulates triglyceride metabolism. People with FCS often have triglyceride levels higher than 880 mg/dL, compared to a healthy target level of below 150 mg/dL.

FDA Approval 59

FDA Approval Drugs Clinical Trials Clinical Trials 59

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

SEPTEMBER 16, 2024

These attacks can be unpredictable, often leading to life-threatening situations when they affect the throat or lungs. HAE is caused by a deficiency or dysfunction of the C1-inhibitor, a protein involved in regulating inflammation. HAE affects approximately one in 50,000 people globally, and there is currently no cure for the disease.

Protein 52

Protein Genetics Trials Allergies 52

XTalks

NOVEMBER 10, 2023

cTTP is a very rare, inherited and life-threatening blood clotting disorder caused by a disease-causing mutation in the ADAMTS13 (A disintegrin and metalloproteinase with thrombospondin motifs 13) gene, which encodes the ADAMTS13 enzyme that regulates blood clotting by cleaving the von Willebrand factor (VWF) protease.

FDA Approval 59

FDA Approval Gene Therapy Gene Clinical Trials 59

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

XTalks

NOVEMBER 29, 2024

The lack of existing treatments amplifies the unmet need for a viable therapy. Govorestat is the first therapy evaluated specifically for this ultra-rare condition.

Drugs 98

Drugs Compliance Clinical Trials Clinical Trials 98

XTalks

FEBRUARY 13, 2025

Kallikrein is a serine protease enzyme that plays a key role in the kallikrein-kinin system by activating kinins, such as bradykinin, which regulate blood vessel dilation and permeability. It is currently under FDA review and, if approved, would be the first oral, on-demand HAE treatment.

Trials 82

Trials Genetics Allergies Drugs 82