A sound approach for effective gene therapy delivery to brain – The Source – Washington University in St. Louis – Washington University in St. Louis

Researchers have been experimenting with different ways to deliver genes to the brain to treat central nervous system diseases and tumors. One of the obstacles, however, is the ability to penetrate the blood-brain barrier while having minimal effect on the other organs in the body.

Hong Chen, associate professor of biomedical engineering at the McKelvey School of Engineering and of radiation oncology at the School of Medicine, both at Washington University in St. Louis, and her team found an effective method to overcome that obstacle using focused ultrasound intranasal delivery (FUSIN). In new research, they found that the intranasally delivered gene therapy had comparable or better outcomes than existing methods while having minimal effect on the bodys other organs.

Results of the research, led by Chen and Dezhuang Ye, a postdoctoral research associate, and collaborators, were published online in the journal eBioMedicineSept. 21. It is the first study to evaluate the potential of FUSIN to deliver adeno-associated viral vectors, small viruses used to deliver gene therapy, in a mouse model.

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Worldwide AAV Vector Industry Report 2022 – by Type of Therapy, Type of Gene Delivery Method Used, Target Therapeutic Area, Application Area, Scale of…

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Dublin, Oct. 17, 2022 (GLOBE NEWSWIRE) -- The "AAV Vector Market: Industry Trends and Global Forecasts, 2022-2035" report has been added to ResearchAndMarkets.com's offering.

This report features an extensive study on the current market landscape, offering an informed opinion on the likely evolution and future opportunities associated with the adeno-associated viral vector market. The study underlines an in-depth analysis, highlighting the key drivers and the market trends related to this evolving segment of the pharmaceutical industry.

Given the potential of gene therapies in targeting the underlying cause of a disease at cellular level, the demand for such therapies has increased considerably over the past few years. Currently, more than 285 gene therapies are being evaluated in different phases of clinical development.

Further, various gene therapy developers have raised more than USD 10 billion capital during the year 2021. With the growing interest in such therapies, the demand for novel delivery vectors has also increased. Among various gene delivery vectors available, adeno-associated viral (AAV) vectors have emerged as one of the most efficient viral vectors. Till now, the USFDA has approved two adeno-associated viral vectors based drugs, LUXTURNA and ZOLGENSMA.

A number of adeno-associated viral vector-based therapies are also being evaluated in different clinical trials. In fact, it has been observed that clinical trials evaluating adeno-associated viral vector based therapies have increased at ~30% growth rate over the last few years. Further, it is worth mentioning that over 50 trials are expected to complete in the next three years.

In order to cater to the demand, close to 100 players, across the globe, have emerged for the development and manufacturing of adeno-associated viral vectors.

In fact, a number of these companies also offer advanced technology platforms, enabling the processing of adeno-associated viral vectors and related therapies across different scales of operation. Various industry and non-industry players are actively engaged in research and development of novel gene delivery technologies, which are safe and effective. This is evident from the patents filed for protection of intellectual property related to such technologies.

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Additionally, multiple partnerships and collaborations have been established between the stakeholders in order to enhance development activity in this industry. Considering the prevalent trends and projected opportunity associated with the overall adeno-associated viral vector / AAV vector domain, we believe that the market is anticipated to witness substantial growth in the foreseen future.

Key Questions Answered

Which adeno-associated viral vector-based therapy candidates are present in the current development pipeline? Which disease indications are targeted by such products?

Who are the leading players (contract service providers and in-house manufacturers) engaged in the development of adeno-associated viral vectors?

Which type of adeno-associated viral vector related technologies are presently offered / being developed by the players in this domain?

Which geographies are the most active in conducting clinical trials related to adeno-associated viral vectors?

Which partnership models are commonly adopted by industry and non-industry stakeholders?

Which companies are likely to partner with adeno-associated viral vector and gene therapy product manufacturers?

What are the different initiatives undertaken by start-ups for the development of adeno-associated viral vectors in the recent past?

Which factors are likely to influence the decision of manufacturing the adeno-associated viral vector in-house or via outsourcing?

How is the current and future market opportunity likely to be distributed across key market segments?

Key Topics Covered:

1. PREFACE

2. EXECUTIVE SUMMARY

3. INTRODUCTION3.1. Chapter Overview3.2. Viral and Non-Viral Vectors3.2.1. Viral Vectors3.2.1.1. Adenovirus Vectors3.2.1.2. Adeno-Associated Viral Vectors3.2.1.3. Lentivirus Vectors3.2.1.4. Retrovirus Vectors3.2.1.5. Other Viral Vectors3.2.1.5.1. Alphavirus3.2.1.5.2. Foamy Virus3.2.1.5.3. Simian Virus3.2.1.5.4. Vaccinia Virus3.2.1.5.5. Chimeric Viral Vectors3.2.1.5.6. Herpes Simplex Virus3.2.1.5.7. Sendai Virus3.2.2. Non-Viral Vectors3.2.2.1. Plasmid DNA3.2.2.2. Oligonucleotides3.2.2.3. Liposomes, Lipoplexes, and Polyplexes3.2.2.4. Other Non-Viral Vectors3.3. Adeno-Associated Viral Vectors3.3.1. Structure and Design3.3.2. Adeno-Associated Viral Vector Life Cycle3.3.3. Applications of Adeno-Associated Viral Vectors3.3.3.1. Gene Therapy3.3.3.2. Vaccination3.3.4. Advantages of Adeno-Associated Viral Vectors3.3.5. Challenges Related to Adeno-Associated Viral Vectors3.4. Concluding Remarks

4. ADENO-ASSOCIATED VIRAL VECTOR BASED THERAPY: MARKET LANDSCAPE4.1. Chapter Overview4.2. Adeno-Associated Viral Vector Based Therapy: Overall Market Landscape4.2.1. Analysis by Phase of Development4.2.2. Analysis by Therapeutic Area(s)4.2.3. Analysis by Type of Gene / Molecule Targeted4.2.4. Analysis by Type of Therapy4.2.5. Analysis by Type of Gene Delivery Method Used4.2.6. Analysis by Route of Administration4.3. Adeno-Associated Viral Vector Based Therapy Candidates: Special Designations4.3.1. Analysis by Special Designation(s) Awarded4.4. Adeno-Associated Viral Vector Based Therapy: List of Developers4.4.1. Analysis by Year of Establishment4.4.2. Analysis by Company Size4.4.3. Analysis by Location of Headquarters4.4.4. Adeno-Associated Viral Vector Based Therapy: Leading Developers

5. ADENO-ASSOCIATED VIRAL VECTOR MANUFACTURERS: MARKET LANDSCAPE5.1. Chapter Overview5.2. Adeno-Associated Viral Vector Manufacturers: Overall Market Landscape5.2.1. Analysis by Year of Establishment5.2.2. Analysis by Company Size5.2.3. Analysis by Location of Headquarters5.2.4. Analysis by Type of Product(s) Manufactured5.2.5. Analysis by Location of Vector Manufacturing Facilities5.2.6. Analysis by Type of Manufacturer and Company Size5.2.7. Analysis by Scale of Operation5.2.8. Analysis by Location of Headquarters and Scale of Operation5.2.9. Analysis by Application Area(s)

6. ADENO-ASSOCIATED VIRAL VECTOR MANUFACTURING TECHNOLOGIES: MARKET LANDSCAPE6.1. Chapter Overview6.2. Adeno-Associated Viral Vector Manufacturing Technologies6.2.1. Analysis by Type of Technology6.2.2. Analysis by Scale of Operation6.2.3. Analysis by Application Area(s)6.2.4. Analysis by Therapeutic Area6.3. Adeno-Associated Viral Vector Technology: List of Developers6.3.1. Analysis by Year of Establishment6.3.2. Analysis by Company Size6.3.3. Analysis by Location of Headquarters6.3.4. Analysis by Company Size and Location of Headquarters6.3.5. Adeno-Associated Viral Vector Technology: Leading Developers

7. DRUG PROFILES7.1. Chapter Overview7.2. Marketed Gene Therapies7.2.1. LUXUTRNA (Spark Therapeutics)7.2.1.1. Company Overview7.2.1.2. Development Timeline7.2.1.3. Mechanism of Action7.2.1.4. Target Indication(s)7.2.1.5. Current Status of Development7.2.1.6. Manufacturing, Dosage and Sales7.2.2. ZOLGENSMA (Novartis)7.2.2.1. Company Overview7.2.2.2. Development Timeline7.2.2.3. Mechanism of Action7.2.2.4. Target Indication(s)7.2.2.5. Current Status of Development7.2.2.6. Manufacturing, Dosage and Sales7.3. Late Stage (Phase II/III and Above) Gene Therapies7.3.1. AGTC 501: Information on Dosage, Mechanism of Action, Clinical Trials and Clinical Trial Results7.3.2. LYS-SAF302: Information on Dosage, Mechanism of Action, Clinical Trials and Clinical Trial Results7.3.3. NFS-01: Information on Dosage, Mechanism of Action, Clinical Trials and Clinical Trial Results7.3.4. RGX-314: Information on Dosage, Mechanism of Action, Clinical Trials and Clinical Trial Results7.3.5. AMT-061: Information on Dosage, Mechanism of Action, Clinical Trials and Clinical Trial Results7.3.6. OAV-101: Information on Dosage, Mechanism of Action, Clinical Trials and Clinical Trial Results7.3.7. PF-06838435: Information on Dosage, Mechanism of Action, Clinical Trials and Clinical Trial Results7.3.8. PF-06939926: Information on Dosage, Mechanism of Action, Clinical Trials and Clinical Trial Results7.3.9. PF-07055480: Information on Dosage, Mechanism of Action, Clinical Trials and Clinical Trial Results7.3.10. SPK-8011: Information on Dosage, Mechanism of Action, Clinical Trials and Clinical Trial Results7.3.11. SRP-9001: Information on Dosage, Mechanism of Action, Clinical Trials and Clinical Trial Results7.3.12. BMN 270: Information on Dosage, Mechanism of Action, Clinical Trials and Clinical Trial Results7.3.13. Lumevoq (GS010): Information on Dosage, Mechanism of Action, Clinical Trials and Clinical Trial Results7.3.14. PTC-AADC: Information on Dosage, Mechanism of Action, Clinical Trials and Clinical Trial Results

8. COMPANY PROFILES8.1. Chapter Overview8.2. Abeona Therapeutics8.2.1. Company Overview8.2.2. Financial Information8.2.3. AAV Vector Manufacturing related Capabilities8.2.4. Recent Developments and Future Outlook8.3 Aldevron (Acquired by Danaher)8.3.1. Company Overview8.3.2. Financial Information8.3.3. AAV Vector Manufacturing related Capabilities8.3.4. Recent Developments and Future Outlook8.4 Oxford BioMedica8.4.1. Company Overview8.4.2. Financial Information8.4.3. AAV Vector Manufacturing related Capabilities8.4.4. Recent Developments and Future Outlook8.5 Sanofi (CEPiA, Sanofi Pasteur, Genzyme)8.5.1. Company Overview8.5.2. Financial Information8.5.3. AAV Vector Manufacturing related Capabilities8.5.4. Recent Developments and Future Outlook8.6. WuXi AppTec8.6.1. Company Overview8.6.2. Financial Information8.6.3. AAV Vector Manufacturing related Capabilities8.6.4. Recent Developments and Future Outlook8.7. YPOSKESI8.7.1. Company Overview8.7.2. AAV Vector Manufacturing related Capabilities8.7.3. Recent Developments and Future Outlook

9. COMPANY COMPETITIVENESS ANALYSIS9.1. Chapter Overview9.2. Methodology and Key Parameters9.3. Adeno-Associated Viral Vector Manufacturers: In-house Manufacturers9.3.1. Players based in North America9.3.2. Players based in Europe9.4. Adeno-Associated Viral Vector Manufacturers: Contract Manufacturing Organizations9.4.1. Players based in North America9.4.2. Players based in Europe9.4.3. Players based in Asia-Pacific9.5. Adeno-Associated Viral Vector Manufacturers: Both In-House and Contract Manufacturing Organizations9.5.1. Players based in North America9.5.2. Players based in Europe9.5.3. Players based in Asia-Pacific

10. TECHNOLOGY COMPETITIVENESS ANALYSIS10.1. Chapter Overview10.2. Methodology and Key Parameters10.3. Adeno-Associated Viral Vector Technology Platforms10.3.1. Adeno-Associated Viral Vector Technology Platforms Developed by Companies10.3.2. Adeno-Associated Viral Vector Technology Platforms Developed by Companies based in Europe and Asia-Pacific

11. CLINICAL TRIAL ANALYSIS11.1. Chapter Overview11.2. Scope and Methodology11.3. Adeno-Associated Viral Vector Based Therapies: Clinical Trial Analysis

12. PARTNERSHIPS AND COLLABORATIONS12.1. Chapter Overview12.2. Partnership Models12.3. Adeno-Associated Viral Vector based Therapies: List of Partnerships and Collaborations12.4. Adeno-Associated Viral Vector Manufacturers: List of Partnerships and Collaborations

13. STRATEGIC PARTNER ANALYSIS

14. PATENT ANALYSIS

15. START-UP HEALTH INDEXING

16. OUTSOURCING: GO / NO-GO FRAMEWORK

17. MARKET SIZING AND OPPORTUNITY ANALYSIS

18. CONCLUDING REMARKS

19. EXECUTIVE INSIGHTS

20. APPENDIX 1: TABULATED DATA

21. APPENDIX 2: LIST OF COMPANIES AND ORGANIZATIONS

For more information about this report visit https://www.researchandmarkets.com/r/6ev168

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Worldwide AAV Vector Industry Report 2022 - by Type of Therapy, Type of Gene Delivery Method Used, Target Therapeutic Area, Application Area, Scale of...

Health News Roundup: Serum Institute to produce Ebola vaccine for use in Uganda outbreak; Eli Lilly to buy gene therapy company Akouos for $487…

Following is a summary of current health news briefs.

Serum Institute to produce Ebola vaccine for use in Uganda outbreak

The Serum Institute of India plans to manufacture 20,000 to 30,000 doses of an experimental Ebola vaccine by the end of November for use in trials against an outbreak in Uganda, its developers and a company source said. The response to Uganda's outbreak has been blunted by the absence of a proven vaccine against the Sudan strain of the virus.

Eli Lilly to buy gene therapy company Akouos for $487 million

Eli Lilly and Co will acquire genetic medicine developer Akouos Inc for about $487 million in cash as the drugmaker aims to bolster its arsenal of gene therapies that target a range of disabilities. Shares of Akouos, which is developing gene therapies for sensorineural hearing loss, soared 84% to trade 40 cents above Lilly's offer price of $12.50 before the opening bell.

J&J results beat estimates on cancer drug strength

Johnson & Johnson on Tuesday beat Wall Street estimates for quarterly revenue and profit on strong demand for its cancer drug Darzalex while projecting an easing of supply-chain pressures next year on its consumer unit. The U.S. health conglomerate, which also sells medical devices and consumer health products such as Band Aid bandages and painkiller Tylenol, tightened its full-year adjusted profit forecast range. Its shares rose 1.5% to $169.01 in premarket trading.

Moderna signs deal on variant-adapted COVID shots for world's poorest

Moderna Inc (MRNA.O) has agreed to provide its new variant-adapted COVID-19 vaccine to the global scheme aiming to deliver shots to the world's poorest people. The biotech company and vaccine alliance GAVI will cancel their existing supply deal for vaccines based on the original coronavirus strain. Instead, Moderna will supply up to 100 million doses of its new, variant-adapted vaccines at its lowest available price from 2023.

S.Korea's LG Chem to invest $566 million to acquire U.S. Aveo Pharmaceuticals

South Korea's LG Chem Ltd said in a regulatory filing on Tuesday that it is investing $566 million to acquire U.S. firm Aveo Pharmaceuticals Inc and enter the U.S. anti-cancer drug market. The deal is expected to close in the first quarter of 2023, LG Chem said.

Bill & Melinda Gates Foundation pledge $1.2 billion to eradicate polio

Bill & Melinda Gates Foundation said on Sunday that it will commit $1.2 billion to support efforts to end all forms of polio globally. Polio is a highly infectious disease spread mainly through contamination by faecal matter, used to kill and paralyse thousands of children annually. While there is no known cure, three injections of the vaccine provide nearly 100% immunity.

U.S. nears record poultry deaths from bird flu; virus type complicates fight

A near-record number of U.S. chickens and turkeys have died in this year's outbreak of avian flu, as a different form of the virus than farmers battled before has infected more wild birds that then transmit the disease, officials said. More than 47 million birds have died due to infections and cullings. This has spurred export bans, lowered egg and turkey production, and contributed to record prices of the staples ahead of the U.S. holiday season. The outbreak exacerbates economic pain for consumers grappling with soaring inflation.

Trump administration blocked CDC transit mask mandate, report shows

Former President Donald Trump's administration at a crucial time in the COVID-19 pandemic in 2020 blocked the U.S. Centers for Disease Control and Prevention (CDC) from adopting a federal mandate requiring face masks on airline flights and other forms of transit, a congressional report released on Monday said. Marty Cetron, a senior CDC official, is cited in the report as saying the federal public health agency began working on the proposed order in July 2020 after its experts determined that there was scientific evidence to support requiring masks in public and commercial transportation.

Hair-straightening products linked with uterine cancer risk -study

Hair-straightening products may significantly increase the risk of developing uterine cancer among those who use them frequently, a large study published on Monday suggests. "We estimated that 1.64% of women who never used hair straighteners would go on to develop uterine cancer by the age of 70, but for frequent users, that risk goes up to 4.05%," study leader Alexandra White of the U.S. National Institute of Environmental Health Safety (NIEHS) said in a statement.

Addiction drug shows promise lifting long COVID brain fog, fatigue

Lauren Nichols, a 34-year-old logistics expert for the U.S. Department of Transportation in Boston, has been suffering from impaired thinking and focus, fatigue, seizures, headache and pain since her COVID-19 infection in the spring of 2020. Last June, her doctor suggested low doses of naltrexone, a generic drug typically used to treat alcohol and opioid addiction. After more than two years of living in "a thick, foggy cloud," she said, "I can actually think clearly." Researchers chasing long COVID cures are eager to learn whether the drug can offer similar benefits to millions suffering from pain, fatigue and brain fog months after a coronavirus infection. The drug has been used with some success to treat a similar complex, post-infectious syndrome marked by cognitive deficits and overwhelming fatigue called myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). Drawing on its use in ME/CFS and a handful of long COVID pilot studies, there are now at least four clinical trials planned to test naltrexone in hundreds of patients with long COVID, according to a Reuters review of Clinicaltrials.gov and interviews with 12 ME/CFS and long COVID researchers. It is also on the short list of treatments to be tested in the U.S. National Institutes of Health's $1 billion RECOVER Initiative, which aims to uncover underlying causes and find treatments for long COVID, advisers to the trial told Reuters.

(With inputs from agencies.)

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Health News Roundup: Serum Institute to produce Ebola vaccine for use in Uganda outbreak; Eli Lilly to buy gene therapy company Akouos for $487...

LEXEO Therapeutics Receives Orphan Drug Designation for LX1004 from European Commission – BioSpace

LX1004 is an adeno-associated virus (AAV) based gene therapy for the treatment of CLN2 Batten disease

In a completed Phase 1/2 clinical trial, LX1004 demonstrated a favorable safety profile and showed statistically significant reduction in rate of decline compared to natural history studies

NEW YORK, Oct. 18, 2022 (GLOBE NEWSWIRE) -- LEXEO Therapeutics (LEXEO), a clinical-stage biotech company advancing a pipeline of adeno-associated virus (AAV)-based gene therapy candidates for genetically defined cardiovascular and central nervous system (CNS) diseases, today announced that the European Commission has granted Orphan Drug Designation to LX1004 for the treatment of CLN2 Batten disease. LX1004 is an AAV-mediated gene therapy designed to deliver a fully functional CLN2 gene to the CNS via intracisternal injection to restore TPP1, the secreted protein that is deficient in patients with CLN2 Batten disease.

CLN2 Batten disease is a fatal autosomal recessive lysosomal storage disease of early childhood caused by a mutation in the CLN2 gene, which results in cognitive impairment, blindness, seizures, and loss of motor function and leads to death at a young age.

An End of Phase 1/2 Meeting with the FDA will be held by the end of 2022. LEXEO has previously been granted Rare Pediatric Disease and Orphan Drug designations by the FDA.

About LEXEO Therapeutics

LEXEO Therapeutics is a New York City-based, clinical-stage gene therapy company focused on addressing some of the most devastating genetically defined cardiovascular and central nervous system diseases affecting both larger-rare and prevalent patient populations. LEXEOs foundational science stems from partnerships and exclusive licenses with leading academic laboratories at Weill Cornell Medical College and the University of California, San Diego. LEXEO is advancing a deep and diverse pipeline of AAV-based gene therapy candidates in rare cardiovascular diseases, APOE4-associated Alzheimers disease, and CLN2 Batten disease, and is led by pioneers and experts with decades of collective experience in genetic medicines, rare disease drug development, manufacturing, and commercialization. For more information, please visit http://www.lexeotx.com or LinkedIn.

Media Contact:

Evan FeeleyEvoke Canale for LEXEO(619) 849-5392 evan.feeley@evokegroup.com

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LEXEO Therapeutics Receives Orphan Drug Designation for LX1004 from European Commission - BioSpace

Trinity team’s new gene therapy shows promise for treating eye condition affecting millions across the globe – Ophthalmology Times

Researchers from Trinity College Dublin have developed a new gene therapy approach that shows promise for treating the dry form of age-related macular degeneration (AMD) a progressive eye disease that affects up to 10% of adults over 65 years of age and is a leading cause of severe vision impairment and blindness in this age group.

According to a Trinity College Dublin news release, dry AMD cases represent around 85% to 90% of all AMD cases and there are no treatments available to treat or prevent disease progression,underlining the need for developing treatment options for this debilitating disease.

In adults, many diseases of aging have been found to have defects of mitochondrial function, including AMD.

The news release noted that the team, in Trinitys School of Genetics and Microbiology, developed a new gene therapy (ophNdi1) that is the first of its kind to directly target mitochondrial function in cells that are malfunctioning in AMD. Mitochondria are known as the powerhouses of the cell because they manage the production of energy but their performance dips greatly in dry AMD and this is linked to a deterioration in sight.

The new gene therapy cleverly uses a virus to access the cells that are suffering and deliver the code needed to give the failing mitochondria a lifeline, enabling them to generate extra energy and continue to function in supporting vision.

Jane Farrar, PhD, the studys senior author, noted that the therapy has shown benefit in multiple models of dry AMD, offering hope that it could one day progress to a treatment that could help millions across the globe.

Critically, this study provides the first evidence in models that directly modulating bioenergetics in eye cells can provide benefit and improve visual function in dry AMD, Farrar said in a news release. In doing so, the study highlights the energy powerhouses of the cell, mitochondria, as key targets for dry AMD.

Sophia Millington-Ward, PhD, first author and research fellow in Trinitys School of Genetics and Microbiology, pointed out that the novel gene therapy targeting cellular energy, or mitochondrial function, that investigators explored for dry AMD consistently provided benefit in the model systems tested.

Many retinal cells, essential for vision, require particularly high levels of energy compared to most other cells, which makes them particularly vulnerable to mitochondrial dysfunction, she said. The therapy we are developing directly targets mitochondrial function and increases energy production levels in the retina, which leads to better visual function in disease models of dry AMD.

Millington-Wardnoted that although there is further work to be done before this could be made available as a treatment for patients, the results give us hope that we are getting closer to a solution to this challenging, debilitating condition.

The Research team in Trinity is funded by Enterprise Ireland and the European Regional Development Fund under Irelands European Structural and Investment Funds programme 1014-2020, Science Foundation Ireland, Fighting Blindness Ireland Health Research Charities Ireland, EU Marie Curie Innovative Training Network, Health Research Board Ireland, Health Research Charities and the Irish Research Council (StarT).

Reference

1. Sophia Millington-Ward, PhD; Jane Farrar, PhD; Arpad Palfi; G.J. Farrar; Naomi Chadderton; Laura K. Finnegan; Iris J.M. Post; Matthew Carrigan Tom Gardiner; Elisa Peixoto, et.al; AAV-mediated gene therapy improving mitochondrial function provides benefit in age-related macular degeneration models. Clinical and Translational Medicine. Published August 23, 2022. https://doi.org/10.1002/ctm2.952.

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Trinity team's new gene therapy shows promise for treating eye condition affecting millions across the globe - Ophthalmology Times

New Pittsburgh biomanufacturing center to accelerate cell and gene therapy innovation – BioPharma-Reporter.com

The Pitt BioForge Biomanufacturing Center will be fully equipped with its enabling technologies, including gene editing, induced pluripotent stem cell (iPSC) and cell, vector, and protein engineering capabilities.

The new facility is expected to generate more than 170 permanent full-time jobs, 900 construction jobs and 360 off-site support jobs.

This announcement supports the region's rise as a leader in cell and gene therapy and advances our vision of bringing an entirely new commercial manufacturing sector to the area," said Patrick Gallagher, Chancellor of the University of Pittsburgh.

In November last year, the Richard King Mellon Foundation announced a $100m grant to the University of Pittsburgh to create the Pitt BioForge Biomanufacturing Center: representing the largest single-project grant in the Foundation's 75-year history.

Now, the 30-year agreement with Cambridge, Massachusetts cell and gene therapy developer ElevateBio will see ElevateBio extend its manufacturing footprint to Pittsburgh, building on its first BaseCamp biomanufacturing facility in Waltham, Massachusetts (the companys new disruptive business model addresses challenges in CGT with a suite of technologies; alongside the BaseCamp manufacturing capability; to create an end-to-end technology platform offering).

To realize our vision of transforming the cell and gene therapy field for decades to come, broadening our footprint across metropolitan areas is a key priority for us, and we are thrilled that the University of Pittsburgh will be home to one of our BaseCamp facilities, said David Hallal, Chairman and Chief Executive Officer of ElevateBio. Weve identified Pittsburgh as an ideal location to extend our BaseCamp presence as it sits at the intersection of science, technology, and talent.

Pitt Senior Vice Chancellor for the Health Sciences, Dr. Anantha Shekhar, said the University of Pittsburgh a top recipient of NIH research funding has exceptional emerging research but to date has lacked access to high-quality process science and manufacturing capabilities.

As we position ourselves to become the next global hub for life sciences and biotech, we were in search of the right partner to help us realize our vision, and ElevateBios expertise and reputation in cell and gene therapy made them the perfect partner to accelerate our ability to build our biomanufacturing center of excellence.

Sam Reiman, Director of the Richard King Mellon Foundation, added:This partnership between two national life-science powerhouses the University of Pittsburgh and ElevateBio - is a consequential step forward in realizing our shared vision to make Pittsburgh a national and international biomanufacturing destination.

Pitt BioForge is a generational opportunity to bring extraordinary economic-development benefits to our region, and life-changing cell and gene therapies to patients - distribution that will be accelerated and enhanced by Pitts partnership with UPMC. ElevateBio could have chosen to locate its next biomanufacturing hub anywhere in the world; the fact they are choosing to come to Pittsburgh is another powerful validation of our region, and the Pitt BioForge project at Hazelwood Green.

The Commonwealth of Pennsylvania and the County of Allegheny also provided incentive grants to ElevateBio in support of this partnership.

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New Pittsburgh biomanufacturing center to accelerate cell and gene therapy innovation - BioPharma-Reporter.com

Ovid turns to gene therapy startup to restock drug pipeline – BioPharma Dive

Ovid Therapeutics has struck a deal with young biotechnology company Gensaic, hoping the startups method of delivering genetic medicines can yield new brain drugs.

Under the deal, the partners will develop up to three gene-based treatments for neurological conditions Ovid is targeting. The New York biotech will get rights to license any gene therapies that emerge from the deal, so long as the two can agree on terms. Ovid also invested $5 million in the startup and committed to participate in future financing rounds.

The deal is the latest step in a rebuilding plan for Ovid, a biotech former Teva and Bristol Myers Squibb executive Jeremy Levin formed seven years ago.

Levins plan in starting Ovid was to grab medicines overlooked elsewhere, license them and develop them for rare brain diseases. That strategy led Ovid to two medicines the company developed for Angelmans syndrome and rare forms of epilepsy, and helped the biotech to go public in 2017.

Ovid hasnt been successful, however. The Angelmans drug failed a Phase 3 trial in 2020, erasing more than half of the companys value. One year later, Ovid, aiming to bolster its dwindling cash reserves, sold rights to the epilepsy drug back to Takeda. Though Ovid can still receive milestone payments and royalties from the drug, which is now in late-stage testing, its only remaining in-house programs are in preclinical testing. At just over $2 apiece, shares trade near all-time lows.

Recently, Ovid has taken steps to restock its pipeline. One experimental medicine for treatment-resistant epileptic seizures could start human trials later this year, while a licensing deal with AstraZeneca and a related partnership with Tufts University could yield other drug candidates that might follow in 2024.

The alliance with Gensaic adds up to three more prospects, while pushing Ovid into the field of gene therapy.

Gensaic was seeded in 2021 as M13 Therapeutics and is currently housed in Cambridge, Massachusetts biotech startup incubator LabCentral. Over the past two years, the company has won awards in multiple startup competitions for its research into a method of gene therapy delivery designed to overcome the limitations of standard approaches.

Many gene therapies rely on modified viruses to send genetic instructions into the bodys cells. Those delivery vehicles are used in multiple products approved for rare inherited diseases, but they also come with weaknesses, too. One commonly used tool, the adeno-associated virus, can only carry a relatively small amount of genetic cargo and is sometimes shut down by the body. Another, the lentivirus, also has limited packaging capacity and has been linked in rare cases to the development of cancers.

Gensaic instead aims to use tiny particles derived from phages, the viruses that infect bacteria, to deliver genetic material. Gensaic claims these particles can be engineered to target multiple tissue types among them the lung and brain and can carry much larger genes. Gensaic believes they may have the potential to be administered more than once, too, though that hasnt yet been proven.

In a statement, Levin said the approach appears to be optimal for carrying substantial genetic cargo across the blood-brain barrier, a filtering mechanism the body uses to keep foreign substances out of the brain.

We believe it may hold the potential to treat a broad continuum of diseases in the brain, Levin said.

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Ovid turns to gene therapy startup to restock drug pipeline - BioPharma Dive

Defining the Impact of Gene Therapy – Managed Healthcare Executive

Steven Pipe, MD: What we've highlighted so far are the benefits of prophylaxis by replacing factor 9 [therapy] with an IV infusion. However, the limitation of that is the need for an IV to deliver that and then the limitations of maintaining sufficient levels so you don't have breakthrough bleeding. The promise of gene therapy is to achieve a steady state, a measurable level of factor that's above key thresholds that would also produce a steady state hemostatic effect sufficient to prevent bleedsall of this following a single treatment intervention. How do we achieve that? The first wave of gene therapies for hemophilia are adenocarcinoma-associated virus-based liver-directed approaches. What we do is a functional copy of factor 9 [therapy] is packaged inside a viral vector, these AV vectors, and the vector contains no propagating viral gene elements. Following a single outpatient IV infusion over as little as 13 hours, these viral particles that contain the factor 9 gene are picked up by the liver cell receptors, and they're taken into the cell. The vector particle uncoats, and it delivers the DNA to the nucleus of the cell. The genetic elements that accompany the gene allow for efficient expression and then secretion of factor 9 protein into the plasma. This reaches a steady state between the rate of secretion from the cell, as well as the clearance from the plasma. That's represented by a factor level that we can measure with traditional blood sampling. If we get those patients up to a sufficient level, they can come off prophylaxis. They may not need factor episodic doses related to trauma if they're at a high enough level, and we can allow them to leave. Hopefully, [this will] allow them to live the life that they choose related to their activity levels, the occupations they want to be involved in, and bring a lot of spontaneity back to their life.

Hemophilia A and hemophilia B gene therapy are similar in concept. However, there are some challenges related to hemophilia A, in particularly factor 8 expression using this strategy, that might make this easier for hemophilia B to come to the forefront of clinical care delivery. One of the biggest differences is the size of the gene itself. The factor 9 gene is considerably smaller than the factor 8 gene that's used for hemophilia A. In fact, the intact factor 8 gene is far too big to fit inside these AV vectors. We use a modified trans-gene in order to package it inside the vectors. In addition, factor 8 has some challenges related to how efficiently the cell can make factor 8. The other aspect, which is interesting from a biological perspective, is that factor 9 is naturally made in the hepatocyte of the cell. However, factor 8 is not primarily made in the hepatocyte; it's made in a number of different tissues in the body, primarily endothelial cells. Trying to express factor 8 within that hepatocyte, which, if you like a non-native cell, has become considerably more challenging. What has this meant in the observations from the trials? We've been getting more consistent and durable expression of factor 9 in the hemophilia B trials than we've seen in hemophilia A. Seeing this get approved at the regulatory level, and then also approved for reimbursement at the payer level, I [now] have a higher level of confidence that hemophilia B might achieve that earlier. We'll be able to incorporate that into our clinical care delivery earlier.

If gene therapy is actually able to come to the forefront as part of a clinical care delivery, this [will] be a game changer, at least for a proportion of the patients we have in our clinicsto be relieved from the need for regular prophylactic therapy, including the burden of the commitment, the need for IV infusions, the economic burden associated with the prophylaxis. You no longer have to worry about doing prophylaxis or even having breakthrough bleeding [from a single treatment event]. You can carry your life forward, not having to think about your hemophilia. These are all significant advantages of this treatment. There's going to be several patients who want to have that kind of transformation and live the life that they choose. We're going to see some limitations in that approach because this is going to be applied according to the eligibility and restrictions associated with clinical trials. Out of the gate, this will be a smaller proportion of patients who are going to benefit from this, a truly transformational treatment.

Transcript edited for clarity.

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Defining the Impact of Gene Therapy - Managed Healthcare Executive

Global Cell and Gene Therapy Market to Surpass US$ 90,984.2 Million by 2030 – Coherent Market Insights – PR Newswire

SEATTLE, Aug. 24, 2022 /PRNewswire/ --According to Coherent Market Insights, the global cell and gene therapy market is estimated to be valued at US$ 15,580.3 million in 2022 and is expected to exhibit a CAGR of 24.7 % during the forecast period (2022-2030).

Key Trends and Analysis of the Global Cell and Gene Therapy Market:

Major players operating in market are focusing on adopting strategies such as collaboration for product development, which is expected to drive the market growth over the forecast period. For instance, in May 2021, Biogen, a U.S. based multinational biotechnology company and Ginkgo Bioworks, a U.S. based Biotechnology Company, announced a gene therapy collaboration. The collaboration aimed to redefine the industry standard for manufacturing recombinant adeno-associated virus (AAV)-based vectors.Recombinant adeno-associated virus AAV-based vectors are widely used to develop innovative gene therapies and have the potential to treat certain neurological and neuromuscular diseases as well as other conditions across multiple therapeutic areas.

Increasing collaborations between key market players is expected to drive growth of the global cell and gene therapy market over the forecast period. For instance, in December 2021, BioMarin Pharmaceutical Inc., a U.S. based Biotechnology Company and Skyline Therapeutics, a gene and cell Therapy Company focused on developing novel treatments for unmet medical needs, announced a global strategic collaboration for the discovery, development and commercialization of Adeno-Associated Virus (AAV) gene therapies to treat genetic cardiovascular diseases. The partnership would help Skyline Therapeutics integrated AAV gene therapy platform based on its proprietary vector engineering and design technology and manufacturing capability to develop innovative gene therapies with a focus on genetic dilated cardiomyopathies (DCM), a group of progressively advancing, devastating diseases with no targeted treatment options. Under the agreement, BioMarin and Skyline Therapeutics would collaborate on discovery and research through to an Investigational New Drug Application (IND).

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Key Market Takeaways:

Increasing inorganic strategies by the key market players is expected to boost the global cell and gene therapy market growth over the forecast period. For instance, in November 2021,Entos Pharmaceuticals, Inc., a clinical-stage biotechnology company developing genetic medicines with its Fusogenix proteolipid vehicle (PLV) nucleic acid delivery platform, and BioMarin Pharmaceutical Inc., a U.S. based Biotechnology Company, announced an agreement that would see Entos apply its Fusogenix nucleic acid delivery technology to gene therapy candidates in the BioMarin pipeline. Under the agreement, Entos would create specially formulated product candidates for BioMarin. Under the agreement, Entos would use its Fusogenix nucleic acid delivery system to specially formulate BioMarin products directed at multiple undisclosed genetic disease indications. BioMarin would conduct preclinical studies of the Fusogenix-formulated candidates to evaluate their potential as therapies to prevent or treat these conditions.

Among Therapy Type, the gene therapy segment held a dominant position in the cell and gene therapy market in 2022. For instance, according to the Catalyst report, in December 2018, around 289 novel cell and gene therapies were in development for a variety of diseases, of which around 111 medicines were for cancer and around 28 medicines were for cardiovascular disease. These medicines in development were either in clinical trials or awaiting for approval from the U.S. Food and Drug Administration (FDA).

Among region, North America is expected to hold a dominant position in the global cell and gene therapy market over the forecast period. For instance, according to the U.S. Pharmacist Journal, January 2018, annually, around 1.2 million adults are diagnosed with early symptoms of brain disorders, of which 21% are due to Alzheimer's disease, and the total number of new cases of Parkinson's disease and traumatic brain injuries is around 135 million in the U.S.

Key players operating in the global cell and gene therapy market include Amgen, Biogen, BioMarin Pharmaceuticals, Bristol-Myers Squibb Company, GlaxoSmithKline, Novartis, Pfizer, Regeneron Pharmaceuticals Inc, Spark Therapeutics, Agilis Biotherapeutics, Angionetics AVROBIO, Freeline Therapeutics, Horama, MeiraGTx, Myonexus Therapeutics, Nightstar Therapeutics, Kolon TissueGene, Inc., JCR Pharmaceuticals Co., Ltd., MEDIPOST, and Bluebird Bio. Inc.

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Detailed Segmentation:

Global Cell and Gene Therapy Market, By Therapy type:

Global Cell and Gene Therapy Market, By Indication:

Global Cell and Gene Therapy Market, By Scale of Operation:

Global Cell and Gene Therapy Market, By Region:

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Middle East and Asia Pacific Cell and Gene Therapy Market, by Therapy Type (Cell Therapy (Stem Cells, T Cells, Dendritic Cells, and NK Cells) and Gene Therapy (Germline Gene Therapy and Somatic Gene Therapy)), by Indication (Dermatology, Musculoskeletal, Oncology, Immunology, Cardiology & Neurology, and Others), by Technology (Lentiviral Vector, Plasmid DNA, and AAV), and by Region (Middle East and Asia Pacific) - Size, Share, Outlook, and Opportunity Analysis, 2022 - 2028

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Global Cell and Gene Therapy Market to Surpass US$ 90,984.2 Million by 2030 - Coherent Market Insights - PR Newswire

Applied StemCell Announces the Expansion of its cGMP Manufacturing Facility to Support Cell and Gene Therapy – Business Wire

MILPITAS, Calif.--(BUSINESS WIRE)--Applied StemCell, Inc. (ASC), a leading cell and gene therapy CRO/CDMO focused on supporting the research community and biotechnology industry for their needs in developing and manufacturing cell and gene products, today announced the expansion of its Current Good Manufacturing (cGMP) facility. ASC has successfully carried out cell banking and product manufacturing projects in its current cGMP suite and is now set on building 4 additional cGMP cleanrooms, cryo-storage space, and a process development and QC/QA space. The expansion of the facility will increase its cell banking and cell product manufacturing capacity and allow ASCs team of experts to work simultaneously on multiple manufacturing projects such as iPSC generation, gene editing, differentiation, and cell bank manufacturing for safe and efficacious therapeutic products.

We are very excited to move forward with the expansion of our cGMP facility, said Dr. David Lee, Ph.D., Head of GMP and Quality. Our team has been working closely with our clients to ensure delivery of high-quality clinical grade products. We thank our customers for their support and trust. With the addition of 4 cGMP cleanrooms, we will be able to assist a greater number of researchers focused on cell and gene therapy.

President and CEO, Dr. Ruby Yanru Chen-Tsai, Ph.D. stated, We are committed to becoming a CDMO leader to support regenerative medicine and cell/gene therapy development and manufacturing. We aim to expand our bio-manufacturing capacity to meet the fast-growing demand in the cell and gene therapy industry. Our unique platform of GMP-grade allogeneic iPSC and TARGATTTM gene editing technology provides our partners great advantages, including shorter manufacturing timelines, non-viral gene editing, and genomic stability and safety.

Construction will begin within the next month, and the company has already begun the staff hiring process. ASC hopes to have the expansion completed and a team built that will be ready to take on as much as 4 times more new projects early next year.

About Applied StemCell, Inc.

ASC has a Drug Manufacturing License from the California Department of Public Health, Food and Drug Branch (FDB). It has a Quality Management System (ISO 13485 certified) and established cGMP-compliant protocols for cell banking and manufacturing, iPSC generation, genome editing, iPSC differentiation, and cell product manufacturing. With over 13 years of gene-editing and stem cell expertise, ASC offers comprehensive and customized cell and gene CRO/CDMO solutions. Its core iPSC and genome editing (CRISPR and TARGATTTM) technologies, facilitate site-specific, large cargo (up to 20kb) transgene integration and the development of allogenic cell products.

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Applied StemCell Announces the Expansion of its cGMP Manufacturing Facility to Support Cell and Gene Therapy - Business Wire

India Gene Therapy Market Research Report 2022: Prospects, Trends, Market Size and Forecasts to 2028 – ResearchAndMarkets.com – Business Wire

DUBLIN--(BUSINESS WIRE)--The "India Gene Therapy Market: Prospects, Trends Analysis, Market Size and Forecasts up to 2028" report has been added to ResearchAndMarkets.com's offering.

The country research report on India gene therapy market is a customer intelligence and competitive study of the India market. Moreover, the report provides deep insights into demand forecasts, market trends, and, micro and macro indicators in the India market.

Also, factors that are driving and restraining the gene therapy market are highlighted in the study. This is an in-depth business intelligence report based on qualitative and quantitative parameters of the market.

Additionally, this report provides readers with market insights and a detailed analysis of market segments to possible micro levels. The companies and dealers/distributors profiled in the report include manufacturers & suppliers of the gene therapy market in India.

Highlights of the Report

The report provides detailed insights into:

The report answers questions such as:

Segments Covered

Segmentation Based on Type

Segmentation Based on Application

Segmentation Based on Vector Type

For more information about this report visit https://www.researchandmarkets.com/r/v4ek75

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India Gene Therapy Market Research Report 2022: Prospects, Trends, Market Size and Forecasts to 2028 - ResearchAndMarkets.com - Business Wire

Walk Again Or Stop Blindness. How Gene Therapy Is Revolutionizing Medicine – Nation World News

Its an impressive thing, an absolute revolution for medicine, he says. Osvaldo Podhajesarmolecular biologist who integrates Leloir Institute who with their team are almost the only ones who investigate gene treatment in Argentina. These treatments are based on the concept of being able to modify a cell at the genetic level so that a disease can be reversed. Some examples that show how disruptive these treatments are are patients. Spinal Muscular Atrophy (SMA) those who sit or walk, those who progress to blindness from Alzheimers disease Labour and regained vision or those that were somehow cured leukemia, In that league, where science thins some fictional stories, it is this type of therapy at play that represents a unique window toward a new opportunity for thousands of people.

One of the possible techniques for performing this type of therapy is described by Hernan Martinoboss Scientific researcher from the University Hospital of Australias Pediatric Neurology and the Argentine Federation of Rare Diseases (Fedepof)Genetically modified is to administer genetic material to the patient by means of a viral vector. This modified virus, which also removed the possibility of being pathogenic, is the one that enters the cells and corrects the error.

What three criminal lines can child death investigators pursue in Crdoba?

for its part, Susanna Baldinimedical director of the Argentine Chamber of Medicinal Specialties (Caeme)who, among other topics, talked about gene therapies at the first meeting of media and pharmawhich took place in Mendoza, in which they participated Country, show that the nucleus of the cell contains chromosomes, which are formed by genes. With each chromosome having two pairs, it is possible that one or both are mutated. Dominant diseases require only one copy to be abnormal to develop in the individual, whereas recessive diseases require both copies to be mutated. And those errors or mutations are what this type of therapy tries to correct.

A little history

Podhajaser Explains that the first clinical trials of gene therapy took place in 1990 and involved genetically modifying the T lymphocytes of a girl who suffered from an immunodeficiency linked to the ADA (adenosine deaminase) gene. In boys who suffer from this disease, their immune system does not work properly and they have to stay in isolation. Since then, thousands of clinical studies have been conducted in this discipline, used in congenital metabolic diseases (where the mutated gene is known to be unable to produce normal proteins) and in more complex diseases such as cancer or neurodegenerative diseases. . ,

,Gene therapy has made remarkable progress And these children with mutations in the ADA gene can have gene therapy and can now lead normal lives with their reorganized immune systems. But advances in gene therapy have occurred not only in this disease in particular, but also extend to retinopathy, where people with blindness have regained their vision as if Leber congenital amaurosis. In this case, the RP65 gene is directly delivered to the retina. or with friends spinal muscular atrophy One who cannot sit can do so again after receiving specific gene therapy of the mutated gene which is also administered using viral vectors, he details. Podhajaser,

amartino Recalls a case of a patient in the late 1990s who was treated for a disease OTC, which had a very severe immune reaction to the vector and died. This delayed many other research related to gene therapy. However, later studies continued and today the results are generally very successful. Of course, he claims amartinoThere is still not enough time to know if these treatments will have any effect for long-term use.

two types of gene therapy

On the one hand, this description amartinothere are in vivo therapy, In this type of therapy, the viral vector that transfers the gene can be applied directly to the organ or tissue where the disease is most affected.

Instead, in ex vivo Stem cells are taken from the patient, we modify them and we insert a new gene into them. Then we re-infect the previously modified cells. Its Like an Autotransplant, For that you have to first give him chemo and remove all his white blood cells. Whether one type of therapy or the other is used will depend on the patients disease, although there are diseases for which both methods are investigated, says the expert.

An example of an ex vivo therapy is CAR-T. is used, It is a cellular gene therapy where cells are taken from the patient and they are genetically manipulated so that they can attack the malignant cells. So the patient kills his own cancer. For now this type of treatment is mainly used for certain types of leukemia., he argues baldini,

Podhajaser warns that the use of car-t It is a treatment that, although it is already used, is very complex. An appropriate laboratory is required to modify these cells with the gene of interest. After modification, the cells are kept in the laboratory for some time and reintroduced to the patient. The patient must be close to that laboratory and the cells cannot be shipped from Argentina to the United States because they will not arrive properly.

another problem of car-tadd Podhajaser Like conventional cancer therapy, the tumor has resistance over time. CAR-Ts are usually directed against a specific protein that they recognize and use to attack the malignant cell. Unfortunately, tumors can recur from cells that do not express this protein and thus survive treatment.

The third drawback is that car-t They do not work as a sole treatment in solid tumors, which are the most frequent tumors. And the reasons are simple: they work so well in hematopoietic tumors because they are cells that do not form a compact tumor tissue, unlike most cancers. And CAR-T just cant enter the tumor, he explains. Podhajaser,

Innovative, but too expensive

One of the issues with these treatments is cost. Millions of dollars are being invested in research and development for hundreds of rare diseases, but this high level of investment is inevitably going to make the treatments very expensive, he laments. express. amartino,

In Argentina, there was a case demonstrating the complexity of obtaining sufficient funding for this type of treatment. Emma, the child who suffered from SMA type 2 and required US$2,100,000 worth of medication from the Novartis laboratory. In order to increase that amount, the influential person Santiago Marata launched the campaign Everyone with Emmita.

,Gene therapy far too expensive, on the order of hundreds of thousands of dollars. Many of the accepted gene therapies either cure a person with a previously incurable disease, or significantly increase their quality of life. To address the payment for these treatments, what is being achieved is negotiations between developing companies and states, because being rare diseases, there are not so many patients who need these treatments, he says. . Podhajaser,

with your colleague, baldini Gives the example of Spain, where there is a shared risk scheme between companies and the state. If they give treatment to the patient and it is not successful, they do not pay for the said treatment.

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Walk Again Or Stop Blindness. How Gene Therapy Is Revolutionizing Medicine - Nation World News

Therapeutic Solutions International Develops Gene Silencing Therapy for Acute Respiratory Distress Syndrome – BioSpace

Aug. 29, 2022 13:00 UTC

Company Continues Accelerated Development of Candidate Pipeline and Patent Portfolio in Respiratory Medicine Space as Phase III Trial Proceeds

ELK CITY, Idaho--(BUSINESS WIRE)-- Therapeutic Solutions International announced today data and filing of a patent covering the use of gene silencing in treatment of Acute Respiratory Distress Syndrome (ARDS), a leading cause of death in emergency rooms.

The Company currently is running a Phase III trial treating COVID-19 induced ARDS but has requested permission from the FDA to expand to ARDS caused by other precipitating factors.

The new data demonstrates feasibility of selectively silencing genes in the lung associated with mortality caused by ARDS, as well as a potent survival advantage in treated versus untreated mice. An approximately 70% reduction in mortality was observed in mice receiving siRNA specifically towards the target genes as compared to mice receiving scrambled siRNA in a TLR4 agonist induced model of ARDS.

The Company plans to continue development of this approach, which is attempted to synergize with the current regenerative medicine programs currently underway.

We are committed to making a significant impact in the lives of patients with ARDS. As part of that commitment, we need to constantly push the limits of medicine and science, said Dr. James Veltmeyer, Chief Medical Officer of the Company. Having previously demonstrated our ability to initiate and run clinical trials, as well as obtain Emergency IND approval, we are confident that we are in the position to accelerate this and other therapeutics in the area of respiratory medicine for which no curative therapeutic approaches exist.

The value of a biotechnology company is in its programs and intellectual property. As our ongoing Phase III continues, our team is brilliantly leveraging this waiting period to continually advance our science. This is what patients and investors count on use to do, said Timothy Dixon, President and CEO of the Company.

About Therapeutic Solutions International, Inc.

Therapeutic Solutions International is focused on immune modulation for the treatment of several specific diseases. The Company's corporate website is http://www.therapeuticsolutionsint.com.

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Therapeutic Solutions International Develops Gene Silencing Therapy for Acute Respiratory Distress Syndrome - BioSpace

Gene therapies for lung cancer identified by international team of scientists – Labiotech.eu

Gene therapies for lung cancer can be found by CRISPR genome editing technology, an international team of scientists have discovered.

CRISPR genome-editing is a powerful tool that gives scientists a cheap and easy way to find and alter a specific piece of DNA within a cell the cut and paste of the biological world.

The research team led by associate professor Rory Johnson of UCD Conway Institute published the study findings in the current issue of the scientific journal,Cell Genomics.

Lung cancer is the leading cause of cancer mortality. The researchers say the work set out to create new routes to developing non-small cell lung cancer therapies based on RNA therapeutics (RNATX). RNATX have recently emerged as promising new strategy for developing therapies against common diseases.

Johnson said: The biggest hurdle is identifying the optimal gene targets for RNATX in a given disease. This project achieves that by combining CRISPR genome-editing with lncRNAs to select the most promising lncRNA targets for therapy.

Using the CRISPR tool, the team initially identified 80 possible lncRNA targets that are active in NSCLC. Further screening homed in on two potential drug targets that have been named as Cancer Hallmarks in Lung LncRNA (CHiLL) 1 and GCAWKR.

These targets will now be further investigated.

Lung cancer is a critical unmet medical need. It is the greatest cancer killer in Ireland and worldwide. Present therapies fail to effectively treat most patients, leading to a poor 5-year survival that has improved little over past decades.

Professor Helen Roche, director at UCD Conway Institute said: These findings offer a widely applicable strategy to discover new targets for RNATX in virtually any cancer. I want to congratulate Rory and his colleagues worldwide on this work.

The team plan to further develop the candidate gene targets for preclinical testing with a view to moving into clinical trials if successful.

They will also look to further improve screening techniques to discover better targets, more rapidly and cheaply, and in other cancer types.

The study was initiated by Johnson group while located at the University of Bern, and completed in University College Dublin, funded by a Science Foundation Ireland (SFI) Future Research Leaders grant to Rory Johnson.

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Gene therapies for lung cancer identified by international team of scientists - Labiotech.eu

Porton Advanced and Kun Tuo Announce Strategic Partnership to Deepen Gene and Cell Therapy CDMO and Clinical Research Services – PR Newswire

SUZHOU, China, Aug. 29, 2022 /PRNewswire/ -- On August 20, 2022, Porton Advanced Solutions (hereinafter referred to as "Porton Advanced") and Kun Tuo Medical Research and Development (Beijing) Co., Ltd. (hereinafter referred to as "Kun Tuo") established a strategic partnership in gene and cell therapy R&D, manufacturing and clinical services to accelerate the development and industrialization of innovative drugs.

Through this strategic cooperation, Porton Advanced and Kun Tuo will fully leverage their strengths, client resources and professional team capabilities to deepen cooperation in gene and cell therapy R&D, manufacturing and clinical research, providing one-stop CDMO and clinical research services for innovative drug companies and cooperating to establish a high-quality gene and cell therapy industry ecosystem.

Focusing on gene and cell therapy, Porton Advanced has built CDMO platforms for plasmids, cell therapy, gene therapy, oncolytic virus, nucleic acid therapy and microbial vector based gene therapy .In the process of gene and cell therapy drug development, Porton Advanced can provide CDMO services such as IND-CMC pharmacological research and clinical sample GMP production. Up to now, the cell therapy CDMO platform houses more than 22 cell therapy IND-CMC projects, covering various cell types such as CAR-T, UCAR-T, TCR-T, TIL, CAR-MSC, CAR-NK, NK and RBC.

As a clinical research organization (CRO) specially established by IQVIA for the Chinese market, Kun Tuo inherits its refined quality management system and standards, coupled with abundant clinical resources, offering high quality CRO services throughout IND to NDA. Since its establishment in 2011, Kun Tuo has provided over 1,000 clinical study services for multiple renowned pharmaceutical companies at home and abroad.

Dr. Wang Yangzhou, CEO of Porton Advanced, said, "We are very pleased to announce that we entered into a strategic partnership with Kun Tuo. Porton Advanced focuses on the field of gene and cell therapy and is committed to establishing a global, end-to-end CDMO service platform, while Kun Tuo delves into clinical research services and has very rich clinical resources as well as a highly professional clinical research & reporting team with strict quality standards. Through our in-depth cooperation and integration of resources and advantages, both parties will help to promote the construction of the gene and cell therapy industry ecosystem and empower more new drugs to scale new level based on an integrated drug service platform, thereby allowing enabling public's early access to good medicines."

Wang Ling, General Manager of Kun Tuo, said, "Cell and gene therapy is a new generation of breakthrough therapies after small molecule and large molecule targeted therapies, and it is also one of the most promising sectors of biopharmaceuticals at present. As a full-service CRO focusing on local clinical trials in China, Kun Tuo has built a dedicated team to conduct clinical trials of cell therapy-related products since 2018, and has been taking the lead in the field of cell and gene therapy. We also provide services from clinical development to commercialization strategy research for our clients with the commercialization team of our group company IQVIA, so that the products can serve patients faster and better. Porton Advanced is a well-known CDMO company d with professional and rich experience in drug development and manufacturing in the industry We hope that by joining hands with Porton Advanced, we can combine the expertise and strengths of both sides to provide domestic biopharmaceutical companies with a one-stop solution from drug R&D, clinical trials to commercialization."

About Porton Advanced SolutionsEstablished in Suzhou Industrial Park in December 2018, by its parent company Porton Pharma Solutions Ltd. (Stock Code: 300363), Porton Advanced has built a CDMO platform integrating plasmid, cell therapy, gene therapy, oncolytic virus, nucleic acid therapy and microbial vectors used for gene therapy (MVGTs), providing end-to-end services from cell banking, process development and analytical development, cGMP production to final Fill and Finish , investigator-initiated clinical trials (IIT), investigational new drugs (IND), clinical trials to commercial production. Porton Advanced is dedicated to support sponsors advance their GCT drug development and market launches.

Porton Advanced focuses solely on gene and cell therapy services. Built on the professional experience of its cohort of world-class professionals, as well as on the successes of its parent company, Porton Advanced insists on "Customer First" and the tenet of "Compliance, Expertise, Focus, Open Collaboration". With its key focus on protecting IP for its sponsors, through its comprehensive project management and quality systems, Porton Advanced strives to bring gene and cell therapy products to the clinic and the market through its quality CDMO services, and help bring the best medicine to the public sooner.

About KunTuoKunTuo, as a full-service Contract Research Organization (CRO) specially set up in China by IQVIA (a wholly owned subsidiary of IQVIA) and with a team of nearly 1000 employees, is dedicated to provide high-quality and reliable clinical research services for Pharmaceutical and Medical Device & Diagnostic (MDD) enterprises. Since its establishment in 2011, Kuntuo has provided more than 1000 clinical research services for many well-known pharmaceutical and device companies in China and abroad and now has accumulated rich clinical resources, including more than 10,000 departments' enrollment data and nearly 500 institutions'/departments' process information. Kuntuo inherits IQVIA's sound quality management system and quality standards, and provides biomedical enterprises with higher quality and more responsive service model from IND to NDA through the application and optimization of IQVIA's global operation experience and expertise.

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Porton Advanced and Kun Tuo Announce Strategic Partnership to Deepen Gene and Cell Therapy CDMO and Clinical Research Services - PR Newswire

Orchard Therapeutics Announces Multiple Presentations at 2022 SSIEM Annual Symposium Highlighting Neurometabolic Disease Portfolio – Yahoo Finance

Orchard Therapeutics (Europe) Limited

BOSTON and LONDON, Aug. 29, 2022 (GLOBE NEWSWIRE) -- Orchard Therapeutics (Nasdaq: ORTX), a global gene therapy leader, today announced seven presentations from across its neurometabolic portfolio will be featured at the Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, taking place from August 30 to September 2, 2022, in Freiburg, Germany.

Featured presentations include an oral presentation on Libmeldy (atidarsagene autotemcel) from clinical development through approval by the European Commission and treatment of the first patients in a commercial setting in Europe, several accepted abstracts highlighting newborn screening efforts to support the timely and accurate diagnosis of metachromatic leukodystrophy (MLD), as well as an encore clinical data presentation from the companys investigational hematopoietic stem cell (HSC) gene therapy OTL-203 for MPS-IH.

The oral presentation details are as follows:

Title: LC-MSMS sulfatides measurement in dried blood spots for the diagnosis of metachromatic leukodystrophy Date/Time: Wednesday, August 31 at 3:30 p.m. CEST Type: Parallel Session 2A Session: Mechanisms and Markers in Lysosomal Disorders Lead Author: Dr. Magali Pettazzoni Abstract #: 2378

Title: From academic clinical development to an approved commercial drug administered in multiple highly specialised centres: arsa-cel, a lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy (MLD) Date/Time: Thursday, September 1 at 12:15 p.m. CEST Type: Parallel Session 3A Session: Gene Therapy Clinical Trials Lead Author: Dr. Francesca Fumagalli Abstract #: 2118

Title: Hematopoietic stem & progenitor cell gene therapy for Hurler syndrome: interim clinical results and extensive metabolic correction Date/Time: Thursday, September 1 at 2:30 p.m. CEST Type: Parallel Session 3A Session: Gene Therapy Clinical Trials Lead Author: Dr. Francesca Tucci Abstract #: 2040

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The poster presentation details are as follows:

Title: Blood spot hexadecanoyl sulphatide concentration in metachromatic leukodystrophy and age-matched, ARSA pseudodeficiency, and unaffected controls Lead Author: Dr. Heather Brown Abstract #: 2810

About Libmeldy / OTL-200Libmeldy (atidarsagene autotemcel), also known as OTL-200, has been approved by the European Commission for the treatment of MLD in eligible early-onset patients characterized by biallelic mutations in the ARSA gene leading to a reduction of the ARSA enzymatic activity in children with i) late infantile or early juvenile forms, without clinical manifestations of the disease, or ii) the early juvenile form, with early clinical manifestations of the disease, who still have the ability to walk independently and before the onset of cognitive decline. Libmeldy is the first therapy approved for eligible patients with early-onset MLD.

The most common adverse reaction attributed to treatment with Libmeldy was the occurrence of anti-ARSA antibodies. In addition to the risks associated with the gene therapy, treatment with Libmeldy is preceded by other medical interventions, namely bone marrow harvest or peripheral blood mobilization and apheresis, followed by myeloablative conditioning, which carry their own risks. During the clinical studies of Libmeldy, the safety profiles of these interventions were consistent with their known safety and tolerability.

For more information about Libmeldy, please see the Summary of Product Characteristics (SmPC) available on the EMA website.

Libmeldy is approved in the European Union, UK, Iceland, Liechtenstein and Norway. OTL-200 is an investigational therapy in the U.S.

Libmeldy was developed in partnership with the San Raffaele-Telethon Institute for Gene Therapy (SR-Tiget) in Milan, Italy.

About Orchard TherapeuticsAt Orchard Therapeutics, our vision is to end the devastation caused by genetic and other severe diseases. We aim to do this by discovering, developing and commercializing new treatments that tap into the curative potential of hematopoietic stem cell (HSC) gene therapy. In this approach, a patients own blood stem cells are genetically modified outside of the body and then reinserted, with the goal of correcting the underlying cause of disease in a single treatment.

In 2018, the company acquired GSKs rare disease gene therapy portfolio, which originated from a pioneering collaboration between GSK and the San Raffaele Telethon Institute for Gene Therapy in Milan, Italy. Today, Orchard is advancing a pipeline spanning pre-clinical, clinical and commercial stage HSC gene therapies designed to address serious diseases where the burden is immense for patients, families and society and current treatment options are limited or do not exist.

Orchard has its global headquarters inLondonandU.S. headquarters inBoston. For more information, please visitwww.orchard-tx.com, and follow us onTwitterandLinkedIn.

Availability of Other Information About OrchardInvestors and others should note that Orchard communicates with its investors and the public using the company website (www.orchard-tx.com), the investor relations website (ir.orchard-tx.com), and on social media (TwitterandLinkedIn), including but not limited to investor presentations and investor fact sheets,U.S. Securities and Exchange Commissionfilings, press releases, public conference calls and webcasts. The information that Orchard posts on these channels and websites could be deemed to be material information. As a result, Orchard encourages investors, the media, and others interested in Orchard to review the information that is posted on these channels, including the investor relations website, on a regular basis. This list of channels may be updated from time to time on Orchards investor relations website and may include additional social media channels. The contents of Orchards website or these channels, or any other website that may be accessed from its website or these channels, shall not be deemed incorporated by reference in any filing under the Securities Act of 1933.

Forward-looking StatementsThis press release contains forward-looking statements, which are made pursuant to the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. All statements that are not statements of historical facts are, or may be deemed to be, forward-looking statements. These statements are neither promises nor guarantees and are subject to a variety of risks and uncertainties, many of which are beyond Orchards control, which could cause actual results to differ materially from those contemplated in these forward-looking statements. Given these uncertainties, the reader is advised not to place any undue reliance on such forward-looking statements.

Other risks and uncertainties faced by Orchard include those identified under the heading "Risk Factors" in Orchards most recent annual or quarterly report filed with the U.S. Securities and Exchange Commission (SEC), as well as subsequent filings and reports filed with the SEC. The forward-looking statements contained in this press release reflect Orchards views as of the date hereof, and Orchard does not assume and specifically disclaims any obligation to publicly update or revise any forward-looking statements, whether as a result of new information, future events or otherwise, except as may be required by law.

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Orchard Therapeutics Announces Multiple Presentations at 2022 SSIEM Annual Symposium Highlighting Neurometabolic Disease Portfolio - Yahoo Finance

BioForest is Breaking Out with Innovation, Talent and Investment – BioSpace

Companies like Sana Biotechnology, Umoja Biopharma and Sonoma Biotherapeutics are heeding the call from the Tacoma mountains, making the BioForest region of Washington and Oregon a lucrative landing ground for biotech innovators. And if the rumors are to be believed, there could soon be a major player moving in.

Seattle, in particular, is a bastion for one of biopharmas hottest spaces cell and gene therapy.

You have a big focus on cell and gene therapies because you have the Hutch, which is really where the first cell therapy was developed, Andy Scharenberg, M.D., co-founder and CEO of Seattle-based Umoja told BioSpace. Scharenberg was referring to the storied Fred Hutchinson Cancer Research Center where bone marrow transplant pioneer Dr. E. Donnall Thomas discovered the potential for the human immune system to eliminate cancer.

Along with Umoja, Sana and Affini-T Therapeutics, both based in Seattle, are continuing this work. Umojas approach aims to re-engineer a patients immune system in vivo to attack and destroy both hematologic and solid organ-based tumors. Sana is a cell and gene therapy hybrid with a cloaking technology that works to overcome the immune barriers of allogeneic cells. Affini-T, launched by researchers at the Hutch, is pioneering engineered TCR T cell therapies with synthetic biology and gene editing enhancements to target oncogenic driver mutations.

Meanwhile, in December 2021, Seattle-based Tune Therapeutics announced its entrance into the sizzling epigenome editing space. This emerging field also consists of Omega Therapeutics and the brand new Epic Bio.

While Seattle gets the most attention, just to the south, Oregon is home to Sparrow Pharmaceuticals, NemaMetrix and Aronora, along with a host of scientific tools manufacturers including Araceli Biosciences and Grace Bio-Labs.

An Elite Talent Pool

BioForest-based companies are able to draw elite scientific talent from the Hutch as well as the University of Washington where Affini-T scientific co-founder Phil Greenberg maintains a teaching position. The Oregon State Universitys Center for Genome Research and Biocomputing offers another plentiful talent pool.

With established companies like Seagen in the region, there is also an ecosystem to provide management talent, Scharenberg said, noting that building a biotech requires good management.

Those factors, along with a relative affordability edge over the principle Biotech Bay and Genetown hubs have made Seattle a great place to build new biotechs, he said. You're seeing that with an increasing amount of startup activity, and also the continued capacity to grow those into at least the mid-cap range.

Seagen, Scharenberg said, is an example of a biotech that's completely homegrown - just an absolutely fantastic success - and has spawned a ton of expertise in how you grow and operate a pharmaceutical company at every stage. People have spun out of that to all over the Seattle area.

BioForest is also just that, a forest, and that appeals to the current generation of biotech talent, Scharenberg said.

There is an increasing interest in doing things in the outdoors and Seattle is amazing for that. There's probably nowhere else in the country where you can drive an hour or go backcountry skiing and feel like you're practically in the wilderness. He added that the COVID-19 pandemic has possibly added to this sentiment.

These factors clearly spoke to Sonoma. The cell therapy company, which is focused on curing autoimmune and inflammatory disease, recently announced plans to build an 83,000-square-foot operations facility in Seattle. The site will be primarily dedicated to the research, development and manufacturing of novel regulatory T cell (Treg) therapies. Sonomas first target is rheumatoid arthritis, for which it is conducting IND-enabling studies.

Heidi Hagen, chief technical officer at Sonoma, told BioSpace the company expects to hire for more than 100 positions across the Seattle area.

Seattle has an established legacy of delivering many firsts in the field of cell therapy for oncology, and Sonoma Bio is leveraging these insights to deliver the next wave of innovation Tregcell therapies for autoimmune and inflammatory diseases, she said. Hagen added that Sonoma considered proximity to transportation infrastructure, talent, technology and [its] current operations when exploring prime locations for the center.

Hagen noted that the first active cell immunotherapy, Dendreon Pharmaceuticals Provenge, for prostate cancer, was developed and approved in the Seattle area. This accomplishment led to Juno Therapeutics, which was formed by former Dendreon executives and then acquired by Celgene (now BMS) for $9 billion. Juno raised a $176 million Series A in 2014, one of the largest early-stage biotech financing rounds at the time.

The Intersection of High-Tech and Biotech

The high concentration of companies like Amazon and Microsoft in the region provides an opportunity for integration of digital technology and medical science, Hagen noted. It is at this intersection of high-tech and biotech that new genetic innovations and streamlined means of medical diagnoses and product manufacturing can be achieved.

Sana President and CEO Steve Harr, M.D. told BioSpace the critical mass of talent, large companies, emerging companies, infrastructure, capital and high-quality cities in the BioForest region are converging to make Seattle a leader in important emerging areas such as cell therapy, antibody-drug conjugates and complex manufacturing.

Harr honed in on complex manufacturing in cell therapy, which he said has emerged as a core strength and differentiator of the region that is both growing and looks sustainable.

This talent, combined with a mix of large and emerging companies, has given the area the critical mass to be a sustainable life sciences hub, Harr continued. Seattles strong foundation in cell and gene therapy and oncology is what drew Sana to the area, he said.

The Future

Historically, Seattles successful biotechs have been acquired at the small- or mid-cap range, Scharenberg noted, adding that he anticipates we're going to see more and more successful biotechs that turn into operating companies, a little bit like Seagen.

What well hopefully continue to do is see companies like [Seagen] start from scratch, grow into the small- to mid-cap stage, but also eventually be successful and hang around and grow into successful commercial biotechs that gradually move into the large biotech category, he said.

Ultimately, When you have an ecosystem that can be anchored by one or two companies that are bigger like that, and then a smattering in the middle and a really active startup situation, that for me is a really healthy ecosystem, Scharenberg concluded.

According to Harr, BioForest is right on the cusp.

I am optimistic that the Seattle area has reached a critical mass that provides the momentum for inevitable success, he shared. That said, winners attract and grow the talent base and will remain critical to the regions success.

Of course, with Mercks potential acquisition of Seagen on the horizon the deal has reportedly been stalled by a disagreement over price the regions star could rise even higher. Only time will tell.

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BioForest is Breaking Out with Innovation, Talent and Investment - BioSpace

An international team sets out to cure genetic heart diseases with one shot – Freethink

Armed with a 30 million grant from the British Heart Foundation, an international team of researchers from the UK, US, and Singapore is setting their sights on curing forms of genetic heart disease using gene therapy.

Called the CureHeart Project, the team which includes researchers from Oxford, Harvard, Singapores National Heart Research Institute, and pharma multinational Bristol Myers Squibb will develop therapies for inherited heart muscle conditions, which impact millions and can cause sudden death, including in young people.

They plan to tackle the problem using two types of targeted techniques, called base editing and prime editing.

An international team of researchers wants to develop a one-shot cure for inherited heart muscle conditions.

Many of the mutations seen in these patients come down to one fateful letter in their DNA code, Christine Seidman, professor of medicine and genetics at Harvard Medical School and co-lead of CureHeart, told The Guardian.

That has raised the possibility that we could alter that one single letter and restore the code so that it is now making a normal gene, with normal function, Seidman said.

The teams work is building on successful demonstrations in animals.

Our goals are to fix the hearts, to stabilise them where they are and perhaps to revert them back to more normal function, Seidman said.

Fixing genetic heart disease: Inherited heart muscle diseases cause abnormalities in the heart, which are passed on through families.

Many different mutations can cause them, but in total, they affect one out of every 250 people around the world, Hugh Watkins, CureHearts lead investigator and the director of Oxfords British Heart Foundation Centre of Research Excellence, told The Guardian.

People of any age can fall victim to sudden heart failure and death, and there is generally a 50/50 chance of passing the problem along to their children.

But decades of genetic research and recent innovations in gene therapy have researchers believing that gene editing may be the answer and even, eventually, the cure.

After 30 years of research, we have discovered many of the genes and specific genetic faults responsible for different cardiomyopathies, and how they work, Watkins said.

Inherited heart muscle conditions impact millions of people, and can cause sudden death.

By using prime and base editing very precise tools for editing DNA the team hopes to develop an injectable cure to repair faulty heart genes, the British Heart Foundation said in a release.

We believe that we will have a gene therapy ready to start testing in clinical trials in the next five years, Watkins told The Guardian.

According to CureHeart, their genetic goals are twofold.

When the cause is a fault in one copy of a gene, which stops the healthy copy from working, they want to switch off the faulty copy; their second approach will be to edit the broken gene sequence itself, to correct it. Theyve demonstrated both methods in mouse models.

Delivering cures: To achieve those goals, the team is turning to two different precision gene editing techniques: prime editing and base editing.

Both enable researchers to edit DNA strands without completely slicing through them (unlike the earlier CRISPR techniques). Prime editing allows researchers to insert or remove certain parts of the genome more precisely, with less collateral damage and fewer errors.

Prime editors offer more targeting flexibility and greater editing precision, Broad Institute chemist David Liu told Science.

They plan to tackle the problem using two types of targeted genetic techniques, called base editing and prime editing.

Base editing which, Science reported, Lius lab invented involves even smaller edits, engineering single letters in the code.

We may be able to deliver these therapies in advance of disease, in individuals we know from genetic testing are at extraordinary risk of having disease development and progressing to heart failure, Seidman told The Guardian.

Never before have we been able to deliver cures, and that is what our project is about. We know we can do it and we aim to get started.

Wed love to hear from you! If you have a comment about this article or if you have a tip for a future Freethink story, please email us at [emailprotected]

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An international team sets out to cure genetic heart diseases with one shot - Freethink

What is the difference between sickle cells and healthy RBCs? – Medical News Today

Sickle cell disease (SCD) refers to a group of genetic conditions that affect the red blood cells (RBCs) by altering their shape. The abnormally shaped cells are unable to perform the function of healthy RBCs efficiently. As a result, a person may experience various symptoms and complications.

SCD describes a group of genetic RBC disorders that affects roughly 100,000 people in the United States. RBCs are an important component of the blood, and they are responsible for its red color. The human body produces roughly 2 million RBCs every second.

RBCs have the vital role of carrying oxygen throughout the body. If they cannot perform this role due to SCD, a person may experience various complications, including anemia, severe pain, and organ damage.

In this article, we discuss the differences between sickle cells and healthy RBCs. We also explain how these differences affect the function of sickle cells.

Sickle cells are a type of hemoglobinopathy. This term refers to conditions that alter the production or structure of hemoglobin. This iron-rich protein plays a key role in delivering oxygen around the body and provides RBCs with their shape and color.

Many different types of hemoglobin exist. The most common type in healthy RBCs is hemoglobin A (HbA). This type of hemoglobin provides RBCs with a soft, round shape that allows them to pass easily through blood vessels and deliver oxygen effectively. On average, these healthy RBCs live for 120 days before the body replaces them with new ones.

A person with SCD instead makes a different type of hemoglobin, which is known as hemoglobin S (HbS). This type of hemoglobin causes RBCs to distort into a C-shape, or the shape of a sickle. Unlike healthy RBCs, sickle cells only live for 1020 days.

The type of hemoglobin a person produces can alter the shape of their RBCs. The hemoglobin protein consists of smaller subunits, which contain two chains of alpha-globin and two chains of beta-globin. A person with SCD has a gene alteration in the HBB gene, which is present on chromosome 11.

This alteration provides the body with instructions to produce HbS instead of HbA. This change replaces a single building block of protein, known as an amino acid, in beta-globin. Specifically, it replaces glutamic acid with valine. This single change causes the RBCs to have the characteristic sickle shape.

Healthy RBCs are round and flexible, which allows them to move easily through blood vessels and transport oxygen around the body. Due to their C-shape and rigidity, sickle cells have difficulty passing through blood vessels. As they break apart easily, clump together, and stick to the walls of blood vessels, they may block the flow of oxygen-rich blood.

This clumping of red blood cells and lack of oxygen to tissue can cause severe pain, infections, and damage to the body. Doctors refer to these severe instances of pain as a sickle cell crisis. Potential complications of SCD may include:

In severe cases, SCD can result in premature death.

Everyone inherits two sets of genes that code for the production of hemoglobin one from each parent. This is similar to how people receive the genes that determine their hair and eye color. The exact type of SCD a person has depends on what combination of genes they inherit.

Statistics show that SCD genes are more common in people of African, South and Central American, Middle Eastern, Asian, Indian, and Mediterranean descent.

There are several types of SCD. The most common types include:

The treatment for SCD can involve a variety of approaches, including medications, procedures, and lifestyle changes.

The following medications can help reduce SCD complications:

Several procedures also aim to reduce the severity of SCD symptoms:

A person with SCD may be more susceptible to dangerous complications from an infection. However, they can take steps to minimize this risk. These include:

Sickle cell disease refers to a group of genetic conditions that affect the type of hemoglobin a persons body produces. Different types of hemoglobin affect both the shape and function of red blood cells. This can lead to a person experiencing a variety of symptoms and health complications.

Treatments are available to minimize the effects of sickle cell disease and encourage the production of healthy red blood cells.

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What is the difference between sickle cells and healthy RBCs? - Medical News Today

Serious side effects reported for some people treated with the huntingtin-lowering drug AMT-130, currently in clinical trials – HDBuzz

Last month, we relayed positive news from uniQures trial testing AMT-130, a gene therapy delivered via brain surgery to lower huntingtin (HTT). Data released by uniQure in June suggested AMT-130 was safe and well tolerated in the small group of people that were treated with a low dose of the drug. Now were back to provide an update on findings from the group of people treated with a higher dose of AMT-130. This new set of data shows that the higher dose of the drug may be causing serious side effects. This doesnt necessarily mean AMT-130 doesnt work and wont move forward, but it does mean that we need to take a pause, really look into what the data are telling us, and work out a safe plan to move forward for people being treated with the drug.

One advantage researchers that study Huntingtons disease (HD) have is that we know exactly what causes HD - an expansion in the HTT gene. The expanded HTT gene produces an expanded HTT message that is then processed into an expanded form of the HTT protein that causes damage in brain cells. So, in theory, reducing the presence of that expanded HTT protein could alleviate the symptoms associated with HD because it directly targets the root cause of the disease. This means that despite recent setbacks for several clinical trials designed to lower HTT levels, HTT lowering is still considered an attractive strategy for HD therapeutics by many researchers.

There are several different ways researchers are trying to lower HTT. The first horse out of the gate in the HTT lowering race were antisense oligonucleotides (ASOs). These are short sequences that bind to a specific message which then cause it to be degraded. Without the message, no protein can be produced. So while the gene remains intact, the protein is never made. This type of HTT-lowering technology is being explored by Roche with their drug tominersen that took a step back to find the right dose and patient population. Wave Life Sciences is also using ASOs to selectively lower the expanded copy of HTT with their ongoing Phase I/II trial for WVE-003, SELECT-HD.

Another way to lower HTT thats being tested in clinical trials is through splice modulators. These are drugs that change how the genetic message is edited. Like a story, every gene has a beginning, middle, and end. The end is a specific sequence that tells molecules in the cell to stop reading the code for that gene. Splice modulators work by editing the message to move that ending code up, confusing the sequence of that gene. So rather than a beginning, middle, and end, the story is just a beginning and end. The cell recognizes that this makes no sense and stops producing that protein.

HDBuzz recently wrote about the splice modulator branaplam, being tested by Novartis in the VIBRANT-HD study, for which dosing was suspended due to safety concerns. Another splice modulator, PTC-518, is being tested by PTC Therapeutics. Even though PTC-518 works in a similar way to branaplam, a head-to-head comparison of these drugs suggests they are actually quite different. So bad news for one doesnt necessarily mean there will be bad news for the other. Were still eagerly waiting for news about the PTC-518 trial!

A third way to lower HTT is through gene therapy, which is the technology being used by uniQure with AMT-130. This drug works by using a harmless virus to deliver DNA instructions that will destroy the HTT message. The HTT gene still exists in its original form, but now the cell contains a new message that will prevent the production of the HTT protein. Because the cells infected with the harmless virus contain the genetic instructions, they can make the HTT lowering message all on their own. This means AMT-130 is a one-and-done approach - deliver the therapy through a single procedure, and the cells will continue to make the instructions that allow them to lower HTT. This is both exciting and nerve-wracking. While it means only one treatment is necessary, it also means any changes are likely permanent.

To get AMT-130 directly where its needed most - the brain - its delivered using brain surgery. Because brain surgery is always risky, this trial was rolled out very slowly to be as careful as possible. After the first 2 surgeries were complete, the participants were watched to make sure there were no immediate negative effects. When everything went well, surgery for the rest of the study participants continued.

The trial testing AMT-130, HD-Gene-TRX1, is a Phase I/II designed to test safety and tolerability of the drug as well as find the right dose that will work for people with HD. Because one of the primary goals of this study was finding the right dose that will work best for people with HD, 2 groups were tested: a low dose group and a high dose group. Scientists at uniQure believe that the higher dose of the drug will not necessarily lower HTT further in each cell, but that more drug will mean that more brain cells will have their levels of HTT lowered by the same amount.

36 people in total were enrolled in uniQures AMT-130 study: 10 that received an imitation surgery that will act as the control group, a critical part of any study, and 26 people in the treatment group. Of the 26 in the treatment group, 12 were treated with a low dose of AMT-130 and 14 were in the group for the high dose. So far, 12 of those 14 have undergone surgery.

In June we got an update from uniQure about people that were treated with the low dose of AMT-130 12 months after their surgeries, which HDBuzz wrote about. In that group, the surgeries and drug were well tolerated with no major safety issues reported. uniQure shared that preliminary data indicating that HTT seemed to be lowered more in the group treated with AMT-130 than the control group. While this is exciting news because it means AMT-130 appears to be doing what we want it to do - lowering HTT - this was reported in a very small group of only 4 participants.

In early August, uniQure made an announcement about participants from the high dose group in the AMT-130 study. Three participants (out of 14) from this arm of the study were found to have severe adverse reactions by an independent safety review committee. Two people that underwent surgery in Europe reported swelling and a third person, treated at a U.S. location, reported a severe headache and related symptoms shortly after surgery. While this is very upsetting and disappointing news, importantly, all three patients have either fully or substantially recovered and have now been released from the hospital.

There are many theories as to why these patients suffered these side effects, including some form of immune response. However, there is no clear or definitive explanations just yet and we must wait for further information before jumping to conclusions.

While the safety review committee doesnt suspect the effects observed in the high-dose group of the trial are due to the drug itself, surgeries for the remaining 2 participants in this arm of the study have been halted for now. The low-dose arm is proceeding as planned and all trial particiants - in both the low- and high-dose groups - will continue to be followed for the duration of the trial. uniQure still expect to report data from the trial according to the originally planned schedule and we will be hearing further updates from the company about this trial in early 2023.

The HD community has received disappointing news from many of the HTT lowering trials now and it is easy to feel like perhaps this is not a good strategy to keep pursuing to try and treat people with HD. It is important to keep a few things in mind though as all is not lost just yet. All of these trials have suffered very different problems and we only really have theories for why they havent panned out as we hoped, all of which might be unrelated to HTT lowering itself. All of these trials are also treating people with HD who are already showing symptoms and perhaps these folks are more vulnerable to potential side effects from these drugs. Its important to note that none of these trials have given us a definitive answer as to whether HTT lowering in people with HD will improve symptoms or change the course of the disease. As the uniQure trial continues, we hope that the next data release might shed some light on this important question.

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Serious side effects reported for some people treated with the huntingtin-lowering drug AMT-130, currently in clinical trials - HDBuzz