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AavantiBio and Catalent Announce Partnership to Support Development and Manufacturing of Gene Therapies for Rare Genetic Diseases

Pharma Mirror

The post AavantiBio and Catalent Announce Partnership to Support Development and Manufacturing of Gene Therapies for Rare Genetic Diseases appeared first on Pharma Mirror Magazine.

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Why early participant engagement is now a top priority in genetic disease research

Pharma Phorum

In 2016, scientists behind a study called the Resilience Project analysed genetic data from 589,000+ people and found 13 adults who carried genetic variants that should have resulted in serious – even deadly – childhood disease, but who were apparently healthy.

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Research Roundup: Ancestry in Cancer Treatment, Nanotech, Genetic Diseases and More

BioSpace

This week, researchers presented findings in how ancestry affects cancer treatment, nanotechnology and genetic diseases. Here's a look at that and more

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Lilly Completes Acquisition of Akouos Expanding Efforts to Help People with Genetic Diseases

The Pharma Data

Lilly Completes Acquisition of Akouos Expanding Efforts to Help People with Genetic Diseases. The acquisition expands Lilly’s efforts in genetic medicines to include Akouos’s portfolio of potential first-in-class adeno-associated viral gene therapies for the treatment of inner ear conditions, including sensorineural hearing loss. senior vice president of genetic medicine at Lilly and co-director of the Institute for Genetic Medicine.

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FDA approves first treatment for Acid Sphingomyelinase Deficiency, a rare genetic disease

The Pharma Data

Moment, theU.S. Food and Drug Administration approved Xenpozyme( Olipudase alfa) for intravenous infusion in pediatric and adult cases with Acid Sphingomyelinase Deficiency( ASMD), a rare inheritable complaint that causes unseasonable death.

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Imaging in Drug Development to Treat Rare Genetic Diseases

ERT

The post Imaging in Drug Development to Treat Rare Genetic Diseases appeared first on ERT. Application Brief - Cardiac Safety - Imaging - Endocrine - Metabolic (Hypophosphatemia). Resources

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New Resource for the Galactosemia Community Launches to Empower Families as They Navigate Lifelong Genetic Disease

BioTech 365

New Resource for the Galactosemia Community Launches to Empower Families as They Navigate Lifelong Genetic Disease New Resource for the Galactosemia Community Launches to Empower Families as They Navigate Lifelong Genetic Disease – The handbook presents information for each life … Continue reading → Business Wire

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New approach to diagnosing genetic diseases using RNA sequencing increases yield

Scienmag

In the world of rare genetic diseases, exome and genome sequencing are two powerful tools used to make a diagnosis. A recent addition to the toolkit, RNA sequencing, has been demonstrated to help researchers narrow down disease candidate variants identified first on exome and genome sequencing. Technology and Engineering Bioinformatics Biotechnology Diagnostics Genetics Medicine/Health

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Scientists discover new genetic disease that delays brain development in children

Scienmag

Credit: Gretel Nicholson, EXRC Scientists have discovered a new genetic disease, which causes some children’s brains to develop abnormally, resulting in delayed intellectual development and often early onset cataracts.

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#news #biotech Improving RNA editing for genetic diseases by recruiting the body’s natural protein

BioTech 365

Biotechnology, Pharma and Biopharma News – Research – Science – Lifescience ://Biotech-Biopharma-Pharma: Improving RNA editing for genetic diseases by recruiting the body’s natural protein.Improving RNA editing for genetic diseases by recruiting the body’s natural protein aliu Mon, 02/14/2022 – … Continue reading → #news

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UCLA receives $4.8M to improve genetic disease risk estimates in diverse populations

Scienmag

million grant from The National Institutes of Health to develop methods that will improve genetic risk estimates – polygenic risk scores – for specific diseases in people from diverse populations and mixed ancestries. Medicine & Health Bioinformatics Genetics Health Care Systems/Services Medicine/Health MinoritiesLOS ANGELES (June 16, 2021) – UCLA Health will receive a $4.8

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Orphazyme’s Stocks Tumble After FDA Rejects Genetic Disease Drug

BioSpace

The FDA said that the drug, which has been studied and submitted for NPC indication, needs further data to support its use in this rare, progressive genetic disorder

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US regRNA player gets $100m in Series B funding to treat genetic diseases at their core

BioPharma Reporter

US biotech, CAMP4 Therapeutics, has secured US$100m in a Series B financing round that it says will be used to accelerate expansion of its regulatory RNA (regRNA) platform. Markets & Regulations

RNA 52
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US regRNA player gets $100m in Series A funding to treat genetic diseases at their core

BioPharma Reporter

US biotech, CAMP4 Therapeutics, has secured US$100m in a Series B financing round that it says will be used to accelerate expansion of its regulatory RNA (regRNA) platform. Markets & Regulations

RNA 52
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#news #biotech Simplifying RNA editing for treating genetic diseases

BioTech 365

Biotechnology, Pharma and Biopharma News – Research – Science – Lifescience ://Biotech-Biopharma-Pharma: Simplifying RNA editing for treating genetic diseases.New research led by bioengineers at the University of California San Diego could make it much simpler to repair disease-causing mutations … Continue reading → #news

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UCSF and BridgeBio Pharma Collaborate to Accelerate the Development of Therapies for Genetic Diseases

BioTech 365

UCSF and BridgeBio Pharma Collaborate to Accelerate the Development of Therapies for Genetic Diseases UCSF and BridgeBio Pharma Collaborate to Accelerate the Development of Therapies for Genetic Diseases SAN FRANCISCO, Dec. 23, 2020 (GLOBE NEWSWIRE) — UC San Francisco (UCSF) … Continue reading → GlobeNewswire

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#news #biotech Penn team uses CRISPR to edit out genetic disease before and after birth in mice

BioTech 365

Biotechnology, Pharma and Biopharma News – Research – Science – Lifescience ://Biotech-Biopharma-Pharma: Penn team uses CRISPR to edit out genetic disease before and after birth in mice.Penn team uses CRISPR to edit out genetic disease before and after birth … Continue reading → #news

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Merck wins approval for cancer drug acquired in 2019 biotech buyout

Bio Pharma Dive

The FDA cleared Welireg, which Merck picked up in its $1 billion takeover of Peloton Therapeutics, to treat certain tumors associated with a rare genetic disease

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Insights on the Umbilical Cord Blood Banking Global Market to 2027 – Rising Applications of Cord Blood and Stem Cells in Genetic Disease Treatment is Driving Growth – ResearchAndMarkets.com

BioTech 365

Insights on the Umbilical Cord Blood Banking Global Market to 2027 – Rising Applications of Cord Blood and Stem Cells in Genetic Disease Treatment is Driving Growth – ResearchAndMarkets.com Insights on the Umbilical Cord Blood Banking Global Market to 2027 … Continue reading → Business Wire

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Cancer drug can rebalance kidney function in a devastating genetic disease

Scienmag

Researchers at the University of Cambridge and the University of Zurich have discovered that a drug newly approved for cancer improves kidney dysfunction in a mouse model of Dent disease 2 and Lowe syndrome The study is published today in Kidney International and offers hope for the first disease-modifying treatment. Biology Biochemistry Cell Biology Developmental/Reproductive Biology Genetics Medicine/Health Molecular Biology Physiology Sex-Linked Conditions Urogenital System

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Fabric Genomics Launches GEM Algorithm to Accelerate Genetic Disease Diagnosis, Provide Comprehensive Clinical-Decision Support

BioTech 365

Fabric GEM’s accuracy validated across five leading genomics centers of excellence in the U.S. and abroad OAKLAND, Calif.–(BUSINESS

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RNAi Technology Market- by Application (Cancer, Infectious Diseases, Ophthalmic Diseases, Genetic Diseases, and Other Diseases) and by Region – Global Forecasts 2020-2024 | Technavio

BioTech 365

RNAi Technology Market- by Application (Cancer, Infectious Diseases, Ophthalmic Diseases, Genetic Diseases, and Other Diseases) and by Region – Global Forecasts 2020-2024 | Technavio RNAi Technology Market- by Application (Cancer, Infectious Diseases, Ophthalmic Diseases, Genetic Diseases, and Other Diseases) and … Continue reading → Business Wire

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Agios to Present Broad Set of Clinical and Translational Data for Oncology and Rare Genetic Disease Programs at the Virtual 2020 ASH Annual Meeting

BioTech 365

Agios to Present Broad Set of Clinical and Translational Data for Oncology and Rare Genetic Disease Programs at the Virtual 2020 ASH Annual Meeting Agios to Present Broad Set of Clinical and Translational Data for Oncology and Rare Genetic Disease … Continue reading → GlobeNewswire

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Free access to Zolgensma curbed, says Novartis

Pharma Phorum

First introduced in 2020, the global Managed Access Programme (gMAP) has provided Zolgensma (onasemnogene abeparvovec) free of charge to nearly 300 children with the genetic disorder across 36 countries where the therapy has not yet received approval or in which no formal access pathway exists.

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Illumina and the University Hospital of Tübingen Evaluate Potential of Whole Genome Sequencing to Improve Diagnosis of Full Range of Genetic Diseases

BioTech 365

Illumina and the University Hospital of Tübingen Evaluate Potential of Whole Genome Sequencing to Improve Diagnosis of Full Range of Genetic Diseases Illumina and the University Hospital of Tübingen Evaluate Potential of Whole Genome Sequencing to Improve Diagnosis of Full … Continue reading → Business Wire

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UniQure moves Huntington's gene therapy to next phase of key trial

Bio Pharma Dive

Safety monitors cleared the company to test a higher dose after reviewing data from 10 patients, providing some hopeful news after recent setbacks for experimental drugs targeting the genetic disease

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Astellas makes another gene therapy play, takes stake in Taysha

Pharma Phorum

The Japanese firm has agreed to make a $50 million investment in Dallas-based Taysha in exchange for a 15% stake in the company, plus exclusive options to license two clinical-stage, single-gene therapies for rare genetic diseases.

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FDA Approval of Sanofi’s Enzyme Replacement Drug for ASMD + Disney Actress Partners with Medtronic for Diabetes Tech Campaign – Xtalks Life Science Podcast Ep. 77

XTalks

In this episode, Ayesha discussed the FDA approval of Sanofi’s enzyme replacement therapy Xenpozyme for the treatment of non-central nervous system (non-CNS) manifestations of acid sphingomyelinase deficiency (ASMD), a rare genetic lysosomal storage disease, in adults and pediatric patients.

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Sanofi wagers $400m on miRecule muscular dystrophy therapy

Pharma Phorum

Sanofi has added to its rare disease pipeline by licensing an antibody-RNA conjugate (ARC) for facioscapulohumeral muscular dystrophy (FSHD), a genetic muscle disorder, from US biotech miRecule.

RNA 86
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Sanofi’s Enzyme Replacement Therapy Xenpozyme Wins FDA Approval for Rare Disease ASMD

XTalks

ASMD is a rare genetic lysosomal storage disease caused by mutations in the sphingomyelin phophodiesterase-1 ( SMPD1 ) gene that codes for the acid sphingomyelinase (ASM) enzyme. Related: FDA’s CDER Introduces New ARC Program to Accelerate Rare Disease Cures.

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Sarepta says early filing for DMD gene therapy is back on

Pharma Phorum

Sarepta’s gene therapy – like rivals from Pfizer and Solid Biosciences – codes for a shortened form of the dystrophin protein that is deficient in patients with the X-linked muscle-wasting disease, which occurs primarily in males.

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Welireg approved in US for rare VHL-associated cancers

Pharma Times

VHL is a rare genetic disease which puts patients at risk of developing benign blood vessel tumours and several cancers

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Evidence suggests cancer is not as purely genetic as once thought

Scienmag

While cancer is a genetic disease, the genetic component is just one piece of the puzzle — and researchers need to consider environmental and metabolic factors as well, according to a research review by a leading expert at the University of Alberta.

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Rare Disease Diagnosis: Why Tackling the Genomic Analysis Bottleneck is Key to Advancing Precision Medicine

XTalks

Expeditious and accurate diagnoses are necessary for patients to access healthcare services and treatment options for rare genetic diseases. Increasing the efficiency of case analysis and interpretation is essential to providing timely care for patients with genetic diseases.

Genome 83
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SparingVision raises €75m for eye disease gene therapies

Pharma Phorum

SparingVision has raised €75 million in second-round funding that will be used to fund clinical trials of gene therapies for ocular diseases retinitis pigmentosa (RP) and dry age-related macular degeneration (AMD).

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“Soft” CRISPR may offer a new fix for genetic defects

Scienmag

Curing debilitating genetic diseases is one of the great challenges of modern medicine. Credit: Guichard/Bier Curing debilitating genetic diseases is one of […]. Technology and Engineering CRISPR defects fix genetic offer Soft

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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.

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New screening technique could accelerate and improve mRNA therapies

Scienmag

Therapeutics based on messenger RNA, or mRNA, can potentially treat a wide range of maladies, including cancer, genetic diseases, and as the world has learned in recent years, deadly viruses.

RNA 62
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Replay Launches Eudora, a Gene Therapy Company Targeting Genetic Retinal Diseases

BioSpace

Platform technology company Replay, based in San Diego and London, has launched Eudora, a gene therapy company targeting genetic diseases of the retina

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Acadia closer to bringing first Rett syndrome drug to market

Pharma Phorum

News R&D Acadia Pharmaceuticals genetic diseases Neuren Pharmaceuticals rare disease Rett Syndrome trofinetide

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Therorna, Carbon Reel in Combined $80M in Series A Financing

BioSpace

Therorna brought in $42 million to advance its circular RNA platform, while Carbon Biosciences banked $38 million to develop therapies for genetic diseases, beginning with cystic fibrosis

RNA 60
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Gene Therapy Continues Edging into the Mainstream

BioSpace

Gene therapy is still very much cutting-edge with the potential to cure incurable genetic diseases. Here’s some recent news in the space

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"Holy Grail" Transplantation Technique Offers Hope to Patients with Rare Kidney Disease

BioSpace

In a study conducted by researchers at Stanford University, three pediatric patients with a rare genetic disease that often results in kidney failure received kidney transplants