Rare genetic disease caused by mutations in protein that controls RNA metabolism

Scienmag

Medicine & Health Biology Cell Biology Developmental/Reproductive Biology Genes Genetics Medicine/Health Molecular Biology Musculature Pediatrics

Unraveling the mystery of Gao, a protein implicated in movement disorders

Scienmag

Scientists illuminate the protein’s role in rare genetic diseases often diagnosed during infancy or childhood Scientists at Scripps Research have clarified the workings of a mysterious protein called G?o, o, which is one of the most abundant proteins in the brain and, when mutated, causes severe movement disorders. Medicine & Health Genes Genetics Health Care Medicine/Health Neurobiology Pediatrics

Insiders

Sign Up for our Newsletter

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

Decreased protein degradation in cerebellum leads to motor dysfunction

Scienmag

EMA starts rapid review of Bluebird’s gene therapy for rare disease CALD

Pharma Phorum

Bluebird bio could be just a few months away from approval of its gene therapy for rare disease cerebral adrenoleukodystrophy (CALD) in the EU, after the EMA started an accelerated review. The post EMA starts rapid review of Bluebird’s gene therapy for rare disease CALD appeared first on.

Research team investigates causes of tuberous sclerosis

Scienmag

Mutations can disrupt protein binding through a “burr effect” thus interfering with the regulation of cell growth Credit: Kümmel team/Oeckinghaus team Tuberous Sclerosis Complex (TSC) affects between one and two of every 10,000 new-born babies.

Study provides new hope for children suffering from rare muscle diseases

Scienmag

Known as myofibrillar myopathies, these rare genetic diseases lead to progressive muscle wasting, affecting muscle function and causing weakness. Credit: Credit: Stephen Greenspan.

Stoke Therapeutics Announces Proposed Public Offering

BioTech 365

Nasdaq: STOK), a biotechnology company pioneering a new way to treat the underlying cause of genetic diseases by precisely upregulating protein expression, today … Continue reading → Business Wire

Shape Therapeutics-Roche’s Deal; AllStripes Raises $50M; Datavant-Real Chemistry’s Partnership; BlueWillow’s Nasal Vaccine

Delveinsight

Seattle biotech firm Shape Therapeutics has signed a deal potentially exceeding USD 3 billion with pharma giant Roche to bolster the development of gene therapies for Alzheimer’s and Parkinson’s disease. Shape Therapeutics inks gene therapy deal with Roche worth up to USD 3 Billion.

FDA slaps clinical hold on BioMarin’s PKU gene therapy

Pharma Phorum

PKU is a rare genetic disease that manifests at birth and is marked by an inability to break down phenylalanine, an amino acid that is commonly found in many foods. News R&D BioMarin fda gene therapy phenylketonuria rare disease safety

Silence Tx uses game to raise thalassaemia awareness

Pharma Phorum

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.

RNA 86

Birinapant licensing; AvantGen, IGM pairs up for anti-SARS-CoV-2 antibodies; BeiGene, Novartis to co-dvelop Tislelizumab; Valo raises USD190 M; Bluebird Bio Spins-off

Delveinsight

Birinapant is a clinical-stage SMAC mimetic that degrades Inhibitors of Apoptosis Proteins (IAPs) by binding to them, ultimately leading to cell death in tumor cells. Bluebird bio recently announced its plans to split its genetic disease and oncology businesses.

Eloxx Pharmaceuticals to Report Third Quarter 2020 Financial Results and Provide Business Update on November 5, 2020

The Pharma Data

is a clinical-stage biopharmaceutical company developing novel RNA-modulating drug candidates (designed to be eukaryotic ribosomal selective glycosides) that are formulated to treat rare and ultra-rare premature stop codon diseases.

Epigenetic Editing with CRISPR Might Be Easier Than We Thought

XTalks

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 83

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

Dravet syndrome is a severe and progressive genetic epilepsy characterized by frequent, prolonged and refractory seizures that usually begin within the first year of life. December 5, 2:00 PM – 3:30 PM; Platform A: Translational Research / Genetics. Genetics / 12A.

Merck Receives Priority Review From FDA for New Drug Application for HIF-2? Inhibitor Belzutifan (MK-6482)

The Pharma Data

inhibitor belzutifan (pronounced bell-ZOO-ti-fan), a novel investigational candidate in Merck’s oncology pipeline, for the potential treatment of patients with von Hippel-Lindau (VHL) disease-associated renal cell carcinoma (RCC), not requiring immediate surgery.

GW Pharmaceuticals’ Epidiolex Receives Approval for Second Rare Disease Indication

XTalks

TSC is a rare genetic disease that affects approximately 1 in 6,000 people. The disease usually presents within the first year of life, displaying subtle signs that can take years to develop. Due to this, the disease can be misdiagnosed or not even recognized for a while.

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

The Pharma Data

Haemophilia A is a serious, inherited bleeding disorder in which a person’s blood doesn’t clot properly, as they either lack or do not have enough of a clotting protein called factor VIII.

FDA Action Alert: Supernus, Adamis, Alkermes, Amgen, BMS and Eiger

The Pharma Data

Progeria, also called Hutchinson-Gilford Progeria Syndrome (HGPS), is an ultra-rare and fatal genetic disease of accelerated aging in children. November is promising to be a busy month for the U.S. Food and Drug Administration (FDA) in terms of PDUFA dates.

Biopharma Money on the Move: December 2 – 8

The Pharma Data

Some of the funds will be used for the development of therapeutics for oncology and other serious diseases through its proprietary ImmunoTAC technology platform. Through its Shielded Living Therapeutics platform, the company is developing functional cures for chronic diseases.

RNA 52

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

XTalks

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.

DNA 52

FDA Action Alert: Urovant, Athenex, scPharmaceuticals and Vertex

The Pharma Data

CF is a rare, life-shortening genetic disease that affects the lungs, liver, GI tract, sinuses, sweat glands, pancreas and reproductive tract. It is caused by a defective and/or missing CFTR protein caused by mutations in the CFTR gene. The U.S.

Biopharma Money on the Move: October 21-27

The Pharma Data

AavantiBio’s strategic partnership with University of Florida’s Powell Gene Therapy Center provide their foundational research in rare genetic disorders. AavantiBio has a unique opportunity to change the lives of those living with FA and other rare diseases,” Cumbo said.

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

The Pharma Data

This study is the first to show that by increasing NAD + , NR helped protect telomeres which are important in addressing life-threatening telomere-related diseases, paving the way for future clinical research. 19, 2020 10:32 UTC. LOS ANGELES–( BUSINESS WIRE )– ChromaDex Corp.

DNA 52

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

While disease progression is slower in patients with later-onset SMA, there are significant unmet needs. “We About Novartis Gene Therapies Novartis Gene Therapies is reimagining medicine to transform the lives of people living with rare genetic diseases.

Clinical Catch-Up: December 21-25 | BioSpace

The Pharma Data

The molecule targets two pathways that cause a number of retinal diseases. It reduced the risk of disease progression or death by 78%. The drug is a topical ointment applied to the lower lid to address the build-up and shedding of proteins at the opening of the Meibomian gland.

Searching for answers in rare epilepsy

Pharma Phorum

Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases. That project is able to turn around a genetic report in as quickly as two weeks.

Surrogate Endpoints: How to Choose the Best One for Your Rare Disease Trial

XTalks

In rare disease trials, it’s not always feasible to choose clinically-relevant endpoints to measure the efficacy of a new therapeutic. Verifying the biomarker’s clinical validity for use as a surrogate endpoint in rare disease research is another hurdle which is generally a longer-term goal.

Novartis Provides Update on AVXS-101 Intrathecal Clinical Development Program

The Pharma Data

All patients deserve a gene therapy designed to address the genetic root cause of their disease with a single dose. About Spinal Muscular Atrophy SMA is the leading genetic cause of infant death.

Searching for answers in rare epilepsy

Pharma Phorum

Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate. He is currently the patient advocacy and engagement lead at Congenica, a digital health company that is investigating the genetic basis of rare diseases.

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

The Pharma Data

Preliminary results from the first five patients treated indicate substantial improvements in all patients in at least two disease domains including communication, behavior, sleep, gross motor function, and fine motor function as measured by the Clinical Global Impression of Improvement Scale for Angelman Syndrome (CGI-I-AS) at day 128. In almost all cases of Angelman syndrome, the maternal UBE3A allele is either missing or mutated, resulting in limited to no protein expression.

FDA Approves Oxlumo (lumasiran) for the Treatment of Primary Hyperoxaluria Type 1

The Pharma Data

PH1 is an ultra-rare genetic disease characterized by oxalate overproduction. The approval of Oxlumo is a further testament to the impact RNAi therapeutics can have in transforming the treatment of severe, life-threatening diseases like PH1.

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

Boxer, MD Research Professor of Pediatrics and Communicable Diseases Department of Pathology Michigan Medicine at the University of Michigan and investigator in the Phase 3 study.