Containment, Gene, Genetic Disease and Protein

Research reveals therapeutic potential of mRNA in rare diseases

Drug Discovery World

JANUARY 11, 2024

The team, led by University College London (UCL), King’s College London and Moderna scientists, found that mRNA could be used to correct a rare genetic liver disease known as argininosuccinic aciduria in a mouse model. mRNA contains instructions that direct the cells to make proteins.

Research

Research Gene Therapy RNA Gene

Adzynma Wins FDA Approval as First Treatment for Ultra-Rare Blood Clotting Disorder cTTP

XTalks

NOVEMBER 10, 2023

The US Food and Drug Administration (FDA) has approved Takeda Pharmaceuticals’ Adzynma, the first recombinant protein product for prophylactic (preventive) or on‑demand enzyme replacement therapy (ERT) in adult and pediatric patients with congenital thrombotic thrombocytopenic purpura (cTTP), an ultra-rare blood clotting disorder.

FDA Approval

FDA Approval Gene Therapy Gene Clinical Trials

GW Pharmaceuticals’ Epidiolex Receives Approval for Second Rare Disease Indication

XTalks

AUGUST 6, 2020

Epidiolex is the only FDA-approved formulation that contains CBD derived from the cannabis plant. CBD is the most abundant non-psychoactive cannabinoid compound found in the cannabis plant, making up about 40 percent of the plant’s extract, which contains over 100 different cannabinoid compounds.

FDA Approval

FDA Approval Protein Containment Genetic Disease

Lamzede Gets Approved for Rare Disease Alpha-Mannosidosis

XTalks

FEBRUARY 27, 2023

Alpha-mannosidosis is an extremely rare genetic metabolic disease affecting approximately one in 500,000 people. The lysosomal storage disorder is caused by mutations in the MAN2B1 gene, which codes for lysosomal alpha-mannosidase, an enzyme that degrades glycoproteins (proteins attached to sugar residues).

FDA Approval

FDA Approval Life Science Containment Genetics

Searching for answers in rare epilepsy

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. We know that neurodevelopmental disorders specifically have a very high frequency of such mutations. “If

Genome

Genome Genomics Genetics Genome Project

New Study from NIH Finds Nicotinamide Riboside Helps Improve Telomere Dysfunction in Human Cells, Mice

The Pharma Data

OCTOBER 18, 2020

Telomeres degrade and shorten with age and can become excessively damaged in certain genetic diseases, as well as from lifestyle factors such as smoking, poor diet, and chronic stress. Shortening of telomeres is associated with the symptoms of aging, heart disease, DNA damage and uncontrolled cell replication, which can lead to cancer.

DNA

DNA Scientist Genetic Disease Research

Searching for answers in rare epilepsy

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. We know that neurodevelopmental disorders specifically have a very high frequency of such mutations. “If

Genome

Genome Genomics Genetics Genome Project

Epigenetic Editing with CRISPR Might Be Easier Than We Thought

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. It’s a great tool for controlling gene expression.”.

DNA

DNA Gene Gene Silencing Genome

Roche to present new data at the ISTH 2021 Congress highlighting long-standing commitment to advancing haemophilia A standard of care

The Pharma Data

JULY 6, 2021

Data will include the final analysis from the phase IIIb STASEY study of Hemlibra® (emicizumab) and updated data from the phase I/II study of SPK-8011, an AAV-based gene therapy in development by Spark Therapeutics (a member of the Roche Group). Roche’s Chief Medical Officer and Head of Global Product Development.

Gene Therapy

Gene Therapy Gene Clinical Trials Clinical Trials

Novartis announces lift of partial clinical trial hold and plans to initiate a new, pivotal Phase 3 study of intrathecal OAV-101 in older patients with SMA

The Pharma Data

AUGUST 3, 2021

SVP, Chief Medical Officer, Novartis Gene Therapies. “We Additionally, STEER will add to the clinical data and emerging real-world evidence for the use of gene therapy to treat SMA. This route of administration has the potential to open up access for older patients to all the benefits of gene therapy.

Clinical Trials

Clinical Trials Clinical Trials Gene Therapy Trials

Using CRISPR to Edit the Epigenome Might Be Easier Than We Thought

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

DNA Gene Gene Silencing Genome

Top 10 Fastest Growing Biotech Companies in 2023

XTalks

DECEMBER 13, 2023

The year 2022 has proven to be a momentous period for Fulgent Genetics, marked by significant expansion of its product portfolio across various medical conditions. is a late-stage oncology company dedicated to developing targeted therapeutics for the treatment of metastatic disease. million and $38.8 million and $33.9

Genetics

Genetics Vaccination Vaccine DNA

Stoke Therapeutics Announces Presentations Related to the Company’s Work to Advance STK-001, the First Potential New Medicine to Target the Underlying Cause of Dravet Syndrome at the American Epilepsy Society (AES) 2020 Annual Meeting

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. –( BUSINESS WIRE )– Stoke Therapeutics , Inc. of all patients.

Medicine

Medicine Genetics Clinical Trials Clinical Trials

BioMarin Announces Positive Phase 3 Gene Therapy Trial Results in Adults with Severe Hemophilia A; Study Met All Primary and Secondary Efficacy Endpoints in One-Year Data Set

The Pharma Data

JANUARY 9, 2021

(NASDAQ: BMRN) today announced positive topline results from its ongoing global Phase 3 GENEr8-1 study of valoctocogene roxaparvovec, an investigational gene therapy for the treatment of adults with severe hemophilia A. This is the largest global Phase 3 study to date for any gene therapy in any indication, with 134 participants.

Gene Therapy

Gene Therapy Gene Trials Clinical Trials

GeneTx and Ultragenyx Announce Positive Interim Phase 1/2 Data on Investigational GTX-102 Demonstrating Improvement in Patients with Angelman Syndrome

The Pharma Data

OCTOBER 28, 2020

Five patients between the ages of 5 and 15 with deletions in the maternal UBE3A gene region were enrolled in the first three cohorts and are included in the interim data analysis. Angelman syndrome is a rare, neurogenetic disorder caused by loss-of-function of the maternally inherited allele of the UBE3A gene. About Angelman Syndrome.

Protein

Protein Production Development Drugs

Novartis Provides Update on AVXS-101 Intrathecal Clinical Development Program

The Pharma Data

SEPTEMBER 22, 2020

Novartis Gene Therapies to initiate new pivotal confirmatory study to evaluate use of AVXS-101 intrathecal (I T ) formulation in older patients with SMA to further support registration. Novartis Gene Therapies remains confident in the overall benefit-risk profile for patients on treatment.

Clinical Development

Clinical Development Gene Therapy Development Gene

Clinical Research Informer

Research reveals therapeutic potential of mRNA in rare diseases

Adzynma Wins FDA Approval as First Treatment for Ultra-Rare Blood Clotting Disorder cTTP

Trending Sources

GW Pharmaceuticals’ Epidiolex Receives Approval for Second Rare Disease Indication

Lamzede Gets Approved for Rare Disease Alpha-Mannosidosis

Searching for answers in rare epilepsy

New Study from NIH Finds Nicotinamide Riboside Helps Improve Telomere Dysfunction in Human Cells, Mice

Searching for answers in rare epilepsy

Epigenetic Editing with CRISPR Might Be Easier Than We Thought

Roche to present new data at the ISTH 2021 Congress highlighting long-standing commitment to advancing haemophilia A standard of care

Novartis announces lift of partial clinical trial hold and plans to initiate a new, pivotal Phase 3 study of intrathecal OAV-101 in older patients with SMA

Using CRISPR to Edit the Epigenome Might Be Easier Than We Thought

Top 10 Fastest Growing Biotech Companies in 2023

Stoke Therapeutics Announces Presentations Related to the Company’s Work to Advance STK-001, the First Potential New Medicine to Target the Underlying Cause of Dravet Syndrome at the American Epilepsy Society (AES) 2020 Annual Meeting

BioMarin Announces Positive Phase 3 Gene Therapy Trial Results in Adults with Severe Hemophilia A; Study Met All Primary and Secondary Efficacy Endpoints in One-Year Data Set

GeneTx and Ultragenyx Announce Positive Interim Phase 1/2 Data on Investigational GTX-102 Demonstrating Improvement in Patients with Angelman Syndrome

Novartis Provides Update on AVXS-101 Intrathecal Clinical Development Program

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