Latest news with #FragileXsyndrome
Yahoo
15-05-2025
- Business
- Yahoo
QurAlis Announces Exclusive License on Novel Mechanism for Fragile X Syndrome (FXS) to Enable Development of First Potential Disease-Modifying Therapy
Collaboration with UMass Chan Medical School confirmed FMR1-217 as well as an RNA-targeted mechanism to restore functional FMRP protein to develop potential treatments for FXS QurAlis' preliminary data suggest feasibility of biomarker to detect mis-splicing of FMR1 in FXS; company advancing FMR1-217 as precision medicine target in up to 80 percent of FXS patients Company applying its FlexASO® platform and expertise of splicing targets toward having a candidate nominated for IND-enabling studies in the near future CAMBRIDGE, Mass., May 15, 2025--(BUSINESS WIRE)--QurAlis Corporation ("QurAlis"), a clinical-stage biotechnology company driving scientific breakthroughs into powerful precision medicines that have the potential to alter the trajectory of neurodegenerative and neurological diseases, today announced it has entered into an exclusive license agreement with UMass Chan Medical School ("UMass Chan") on a novel RNA-targeted mechanism confirmed to restore functional protein for Fragile X syndrome (FXS). Fragile X syndrome is the leading inherited form of intellectual disability and the most common single genetic cause of autism. It is a genetic condition caused by a mutation of a single gene – Fragile X messenger ribonucleoprotein 1 (FMR1) – on the X chromosome. This mutation of FMR1 causes a range of developmental problems including learning disabilities, behavioral challenges, and cognitive impairment. QurAlis' exclusive license agreement is a result of its 2024 partnership and collaboration with UMass Chan to explore the biology of FXS to determine and confirm relevant targets that could enable antisense oligonucleotide (ASO)-mediated correction for FXS. QurAlis leveraged its deep understanding, knowledge and expertise in developing ASOs as part of the collaboration. QurAlis confirmed the findings from the original publication of the UMass Chan researchers and is advancing FMR1 as a precision medicine target in up to 80 percent of FXS patients. The mis-spliced form of FMR1, designated as FMR1-217, is widely expressed throughout cortical brain areas affected in FXS and can be measured in blood and cerebrospinal fluid. Preliminary data suggest biomarker feasibility to detect mis-splicing of FMR1 in patients with FXS. "FXS is a devastating neurodevelopmental disorder with no effective disease-modifying therapies available. Our initial partnership with UMass Chan confirmed that FMR1-217 is a validated genetic target for FXS," said Kasper Roet, Ph.D., chief executive officer and co-founder of QurAlis. "This groundbreaking discovery of a novel RNA-targeted mechanism to restore functional protein for FXS and the feasibility of a biomarker to detect mis-splicing of FMR1 in FXS patients opens up a completely new type of therapeutic approach through splice correction. We look forward to applying QurAlis' FlexASO® platform and deep knowledge and expertise of ASO splicing targets toward having a candidate nominated for IND-enabling studies in the near future, so that we can bring a potential new precision medicine option to patients." Joel Richter, Ph.D., the Arthur F. Koskinas Chair in Neuroscience and professor of molecular medicine at UMass Chan, and colleagues Sneha Shah, Ph.D., and Jonathan K. Watts, Ph.D., together with Elizabeth Berry-Kravis, M.D., Ph.D., at Rush University Medical Center, have shown that aberrant alternative splicing, or mis-splicing, of messenger RNA (mRNA) plays a fundamental role in FXS. In a seminal publication by the group, it was revealed that in FXS patients, FMR1 mRNA is still being expressed, but is mis-spliced, comprising a short, truncated alternative mRNA variant called FMR1-217 which results in non-functional FMRP protein expression. Working with patient-derived cells, Dr. Richter's lab and Dr. Berry-Kravis initially demonstrated that ASOs can successfully inhibit the mis-splicing, reduce expression of FMR1-217, rescue proper FMR1 mRNA, and restore FMRP protein expression. "This is a meaningful step in the process of taking basic biological discoveries and turning them into practical therapies that can benefit patients in the clinic," said Dr. Richter. "QurAlis' platform and expertise in neurodegenerative disorders are industry leading and well positioned to address the mis-splicing of FMR1 RNA and restore functional FMRP protein expression. This partnership has not only validated our years-long research but also has resulted in the confirmation of a novel target for FXS, which we hope will lead to much-needed treatment options for FXS patients and their families." Dr. Berry-Kravis added, "I am very excited that we will be able to continue development of this potential genetically based disease-modifying FMRP-restoring therapy that is expected to have a major impact on the FXS field and the spectrum of treatment options available to improve function in people with FXS." An orphan disease, FXS affects approximately 87,000 individuals in the U.S. alone – one in 4,000 men and one in 6,000 women. Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity. In addition to intellectual disability, FXS patients endure a wide range of disabling symptoms including severe anxiety, social aversion, hyperactivity and attention deficit, sensory hypersensitivity, aggression, developmental seizures, and others. There are no effective disease-modifying therapies currently available for FXS. ASOs are short, engineered single-stranded DNA/RNA molecules that can selectively bind RNA to regulate its expression in the cell. ASO technology has been leading in the field of protein regulation and has since allowed us to develop treatments for neurodegenerative disease by changing the expression of genes connected to the disease. QurAlis' FlexASO® platform was developed to generate splice-switching ASOs with improved potency, increased therapeutic index and improved bio-distribution. This bespoke platform has the potential to tackle the spectrum of neurodegenerative and neurological diseases. About QurAlis Corporation At QurAlis, we are neuro pioneers on a quest to cure, boldly seeking to translate scientific breakthroughs into powerful precision medicines. We work collaboratively with a relentless pursuit of knowledge, precise attention to craft, and compassion to discover and develop medicines that have the potential to transform the lives of people living with neurodegenerative and neurological diseases. QurAlis is the leader in development of precision therapies for amyotrophic lateral sclerosis (ALS). In addition to ALS, QurAlis is advancing a robust precision medicine pipeline to bring effective disease-modifying therapeutics to patients suffering from severe diseases defined by genetics and clinical biomarkers. For more information, please visit or follow us on X @QurAlisCo or LinkedIn. View source version on Contacts Kathy 310-403-8951 Sign in to access your portfolio
Business Wire
15-05-2025
- Business
- Business Wire
Quiver Bioscience and QurAlis Announce Research Collaboration to Advance Novel Therapeutic Approach for Fragile X Syndrome
CAMBRIDGE, Mass.--(BUSINESS WIRE)-- Quiver Bioscience ('Quiver') and QurAlis Corporation ('QurAlis'), today announced that the companies have entered into a research collaboration to advance a novel gene-targeted therapeutic approach for the treatment of Fragile X syndrome (FXS). The goal of the collaboration is to combine Quiver's unique 'Genomic Positioning System' (GPS) drug discovery platform with QurAlis' expertise in developing next-generation precision medicines for neurodegenerative and neurological diseases to build a foundational data package in support of advancing a potentially transformative therapeutic for FXS. Quiver's GPS platform integrates unique-in-world, scalable, human neuronal electrophysiology data (the 'language' of the brain) with artificial intelligence and machine learning (AI/ML) to drive novel insights into disease biology and enable optimized drug discovery. Quiver has successfully applied its GPS approach to a variety of central nervous system (CNS) disorders and recently published modeling and drug discovery efforts in FXS. 'Our platform technology is uniquely suited to improving understanding of the molecular and cellular basis of neurogenetic disorders such as FXS. We are excited to embark on this partnership with QurAlis which aspires to bring about groundbreaking therapies for the FXS community,' said Graham Dempsey, Ph.D., co-founder and CEO of Quiver Bioscience. 'FXS is a devastating neurodevelopmental disease. It is the leading inherited form of intellectual disability and known cause of autism for which there are no disease-modifying therapies,' said Kasper Roet, Ph.D., CEO and co-founder of QurAlis. 'We look forward to this research collaboration with Quiver. The combination of enabling technologies and drug development experience built through this partnership holds great promise for progressing novel therapeutics for FXS, for which there exists a significant unmet medical need.' FXS, the leading genetic form of intellectual disability and autism spectrum disorder, is caused by loss of the FMR1 encoded protein Fragile X Messenger Ribonucleoprotein (FMRP). It currently affects approximately 87,000 individuals in the U.S. alone – occurring at an incidence of 1 in 4,000 males and 1 in 6,000 females. In addition to intellectual disability, FXS symptoms include delays in development, seizures, speech difficulties, hyperactivity and attention deficit, severe anxiety, and others. There are no disease-modifying therapies currently available for FXS. Destum Partners acted as transaction advisor to Quiver Bioscience. About Quiver Bioscience Quiver Bioscience is a technology-driven company established to create transformational medicines for the brain while simultaneously uncovering new biology and novel, effective drug targets. Using advanced single-cell imaging and multi-omics, we are building the world's most information-rich neuronal insight map via our "Genomic Positioning System." Our approach integrates cutting-edge scalable human models, state-of-the-art technology and proprietary engineering, and learning and surrogate AI/ML models to identify novel therapeutic targets and the best candidate molecules to deliver new and meaningful therapeutics to patients. For information, including additional publications describing application of Quiver's GPS to drug discovery, visit or follow us on LinkedIn. About QurAlis Corporation At QurAlis, we are neuro pioneers on a quest to cure, boldly seeking to translate scientific breakthroughs into powerful precision medicines. We work collaboratively with a relentless pursuit of knowledge, precise attention to craft, and compassion to discover and develop medicines that have the potential to transform the lives of people living with neurodegenerative and neurological diseases. QurAlis is the leader in development of precision therapies for amyotrophic lateral sclerosis (ALS). In addition to ALS, QurAlis is advancing a robust precision medicine pipeline to bring effective disease-modifying therapeutics to patients suffering from severe diseases defined by genetics and clinical biomarkers. For more information, please visit or follow us on X @QurAlisCo or LinkedIn.
Associated Press
15-05-2025
- Business
- Associated Press
QurAlis Announces Exclusive License on Novel Mechanism for Fragile X Syndrome (FXS) to Enable Development of First Potential Disease-Modifying Therapy
CAMBRIDGE, Mass.--(BUSINESS WIRE)--May 15, 2025-- QurAlis Corporation ('QurAlis'), a clinical-stage biotechnology company driving scientific breakthroughs into powerful precision medicines that have the potential to alter the trajectory of neurodegenerative and neurological diseases, today announced it has entered into an exclusive license agreement with UMass Chan Medical School ('UMass Chan') on a novel RNA-targeted mechanism confirmed to restore functional protein for Fragile X syndrome (FXS). Fragile X syndrome is the leading inherited form of intellectual disability and the most common single genetic cause of autism. It is a genetic condition caused by a mutation of a single gene – Fragile X messenger ribonucleoprotein 1 (FMR1) – on the X chromosome. This mutation of FMR1 causes a range of developmental problems including learning disabilities, behavioral challenges, and cognitive impairment. QurAlis' exclusive license agreement is a result of its 2024 partnership and collaboration with UMass Chan to explore the biology of FXS to determine and confirm relevant targets that could enable antisense oligonucleotide (ASO)-mediated correction for FXS. QurAlis leveraged its deep understanding, knowledge and expertise in developing ASOs as part of the collaboration. QurAlis confirmed the findings from the original publication of the UMass Chan researchers and is advancing FMR1 as a precision medicine target in up to 80 percent of FXS patients. The mis-spliced form of FMR1, designated as FMR1-217, is widely expressed throughout cortical brain areas affected in FXS and can be measured in blood and cerebrospinal fluid. Preliminary data suggest biomarker feasibility to detect mis-splicing of FMR1 in patients with FXS. 'FXS is a devastating neurodevelopmental disorder with no effective disease-modifying therapies available. Our initial partnership with UMass Chan confirmed that FMR1-217 is a validated genetic target for FXS,' said Kasper Roet, Ph.D., chief executive officer and co-founder of QurAlis. 'This groundbreaking discovery of a novel RNA-targeted mechanism to restore functional protein for FXS and the feasibility of a biomarker to detect mis-splicing of FMR1 in FXS patients opens up a completely new type of therapeutic approach through splice correction. We look forward to applying QurAlis' FlexASO® platform and deep knowledge and expertise of ASO splicing targets toward having a candidate nominated for IND-enabling studies in the near future, so that we can bring a potential new precision medicine option to patients.' Joel Richter, Ph.D., the Arthur F. Koskinas Chair in Neuroscience and professor of molecular medicine at UMass Chan, and colleagues Sneha Shah, Ph.D., and Jonathan K. Watts, Ph.D., together with Elizabeth Berry-Kravis, M.D., Ph.D., at Rush University Medical Center, have shown that aberrant alternative splicing, or mis-splicing, of messenger RNA (mRNA) plays a fundamental role in FXS. In a seminal publication by the group, it was revealed that in FXS patients, FMR1 mRNA is still being expressed, but is mis-spliced, comprising a short, truncated alternative mRNA variant called FMR1-217 which results in non-functional FMRP protein expression. Working with patient-derived cells, Dr. Richter's lab and Dr. Berry-Kravis initially demonstrated that ASOs can successfully inhibit the mis-splicing, reduce expression of FMR1-217, rescue proper FMR1 mRNA, and restore FMRP protein expression. 'This is a meaningful step in the process of taking basic biological discoveries and turning them into practical therapies that can benefit patients in the clinic,' said Dr. Richter. 'QurAlis' platform and expertise in neurodegenerative disorders are industry leading and well positioned to address the mis-splicing of FMR1 RNA and restore functional FMRP protein expression. This partnership has not only validated our years-long research but also has resulted in the confirmation of a novel target for FXS, which we hope will lead to much-needed treatment options for FXS patients and their families.' Dr. Berry-Kravis added, 'I am very excited that we will be able to continue development of this potential genetically based disease-modifying FMRP-restoring therapy that is expected to have a major impact on the FXS field and the spectrum of treatment options available to improve function in people with FXS.' An orphan disease, FXS affects approximately 87,000 individuals in the U.S. alone – one in 4,000 men and one in 6,000 women. Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity. In addition to intellectual disability, FXS patients endure a wide range of disabling symptoms including severe anxiety, social aversion, hyperactivity and attention deficit, sensory hypersensitivity, aggression, developmental seizures, and others. There are no effective disease-modifying therapies currently available for FXS. ASOs are short, engineered single-stranded DNA/RNA molecules that can selectively bind RNA to regulate its expression in the cell. ASO technology has been leading in the field of protein regulation and has since allowed us to develop treatments for neurodegenerative disease by changing the expression of genes connected to the disease. QurAlis' FlexASO® platform was developed to generate splice-switching ASOs with improved potency, increased therapeutic index and improved bio-distribution. This bespoke platform has the potential to tackle the spectrum of neurodegenerative and neurological diseases. About QurAlis Corporation At QurAlis, we are neuro pioneers on a quest to cure, boldly seeking to translate scientific breakthroughs into powerful precision medicines. We work collaboratively with a relentless pursuit of knowledge, precise attention to craft, and compassion to discover and develop medicines that have the potential to transform the lives of people living with neurodegenerative and neurological diseases. QurAlis is the leader in development of precision therapies for amyotrophic lateral sclerosis (ALS). In addition to ALS, QurAlis is advancing a robust precision medicine pipeline to bring effective disease-modifying therapeutics to patients suffering from severe diseases defined by genetics and clinical biomarkers. For more information, please visit or follow us on X @QurAlisCo or LinkedIn. View source version on CONTACT: Kathy Vincent [email protected] 310-403-8951 KEYWORD: UNITED STATES NORTH AMERICA MASSACHUSETTS INDUSTRY KEYWORD: RESEARCH NEUROLOGY GENETICS BIOTECHNOLOGY HEALTH UNIVERSITY PHARMACEUTICAL SCIENCE EDUCATION SOURCE: QurAlis Corporation Copyright Business Wire 2025. PUB: 05/15/2025 07:45 AM/DISC: 05/15/2025 07:44 AM
Business Wire
15-05-2025
- Business
- Business Wire
QurAlis Announces Exclusive License on Novel Mechanism for Fragile X Syndrome (FXS) to Enable Development of First Potential Disease-Modifying Therapy
CAMBRIDGE, Mass.--(BUSINESS WIRE)-- QurAlis Corporation ('QurAlis'), a clinical-stage biotechnology company driving scientific breakthroughs into powerful precision medicines that have the potential to alter the trajectory of neurodegenerative and neurological diseases, today announced it has entered into an exclusive license agreement with UMass Chan Medical School ('UMass Chan') on a novel RNA-targeted mechanism confirmed to restore functional protein for Fragile X syndrome (FXS). Fragile X syndrome is the leading inherited form of intellectual disability and the most common single genetic cause of autism. It is a genetic condition caused by a mutation of a single gene – Fragile X messenger ribonucleoprotein 1 (FMR1) – on the X chromosome. This mutation of FMR1 causes a range of developmental problems including learning disabilities, behavioral challenges, and cognitive impairment. QurAlis' exclusive license agreement is a result of its 2024 partnership and collaboration with UMass Chan to explore the biology of FXS to determine and confirm relevant targets that could enable antisense oligonucleotide (ASO)-mediated correction for FXS. QurAlis leveraged its deep understanding, knowledge and expertise in developing ASOs as part of the collaboration. QurAlis confirmed the findings from the original publication of the UMass Chan researchers and is advancing FMR1 as a precision medicine target in up to 80 percent of FXS patients. The mis-spliced form of FMR1, designated as FMR1-217, is widely expressed throughout cortical brain areas affected in FXS and can be measured in blood and cerebrospinal fluid. Preliminary data suggest biomarker feasibility to detect mis-splicing of FMR1 in patients with FXS. 'FXS is a devastating neurodevelopmental disorder with no effective disease-modifying therapies available. Our initial partnership with UMass Chan confirmed that FMR1-217 is a validated genetic target for FXS,' said Kasper Roet, Ph.D., chief executive officer and co-founder of QurAlis. 'This groundbreaking discovery of a novel RNA-targeted mechanism to restore functional protein for FXS and the feasibility of a biomarker to detect mis-splicing of FMR1 in FXS patients opens up a completely new type of therapeutic approach through splice correction. We look forward to applying QurAlis' FlexASO® platform and deep knowledge and expertise of ASO splicing targets toward having a candidate nominated for IND-enabling studies in the near future, so that we can bring a potential new precision medicine option to patients.' Joel Richter, Ph.D., the Arthur F. Koskinas Chair in Neuroscience and professor of molecular medicine at UMass Chan, and colleagues Sneha Shah, Ph.D., and Jonathan K. Watts, Ph.D., together with Elizabeth Berry-Kravis, M.D., Ph.D., at Rush University Medical Center, have shown that aberrant alternative splicing, or mis-splicing, of messenger RNA (mRNA) plays a fundamental role in FXS. In a seminal publication by the group, it was revealed that in FXS patients, FMR1 mRNA is still being expressed, but is mis-spliced, comprising a short, truncated alternative mRNA variant called FMR1-217 which results in non-functional FMRP protein expression. Working with patient-derived cells, Dr. Richter's lab and Dr. Berry-Kravis initially demonstrated that ASOs can successfully inhibit the mis-splicing, reduce expression of FMR1-217, rescue proper FMR1 mRNA, and restore FMRP protein expression. 'This is a meaningful step in the process of taking basic biological discoveries and turning them into practical therapies that can benefit patients in the clinic,' said Dr. Richter. 'QurAlis' platform and expertise in neurodegenerative disorders are industry leading and well positioned to address the mis-splicing of FMR1 RNA and restore functional FMRP protein expression. This partnership has not only validated our years-long research but also has resulted in the confirmation of a novel target for FXS, which we hope will lead to much-needed treatment options for FXS patients and their families.' Dr. Berry-Kravis added, 'I am very excited that we will be able to continue development of this potential genetically based disease-modifying FMRP-restoring therapy that is expected to have a major impact on the FXS field and the spectrum of treatment options available to improve function in people with FXS.' An orphan disease, FXS affects approximately 87,000 individuals in the U.S. alone – one in 4,000 men and one in 6,000 women. Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity. In addition to intellectual disability, FXS patients endure a wide range of disabling symptoms including severe anxiety, social aversion, hyperactivity and attention deficit, sensory hypersensitivity, aggression, developmental seizures, and others. There are no effective disease-modifying therapies currently available for FXS. ASOs are short, engineered single-stranded DNA/RNA molecules that can selectively bind RNA to regulate its expression in the cell. ASO technology has been leading in the field of protein regulation and has since allowed us to develop treatments for neurodegenerative disease by changing the expression of genes connected to the disease. QurAlis' FlexASO® platform was developed to generate splice-switching ASOs with improved potency, increased therapeutic index and improved bio-distribution. This bespoke platform has the potential to tackle the spectrum of neurodegenerative and neurological diseases. About QurAlis Corporation At QurAlis, we are neuro pioneers on a quest to cure, boldly seeking to translate scientific breakthroughs into powerful precision medicines. We work collaboratively with a relentless pursuit of knowledge, precise attention to craft, and compassion to discover and develop medicines that have the potential to transform the lives of people living with neurodegenerative and neurological diseases. QurAlis is the leader in development of precision therapies for amyotrophic lateral sclerosis (ALS). In addition to ALS, QurAlis is advancing a robust precision medicine pipeline to bring effective disease-modifying therapeutics to patients suffering from severe diseases defined by genetics and clinical biomarkers. For more information, please visit or follow us on X @QurAlisCo or LinkedIn.
Cision Canada
06-05-2025
- Business
- Cision Canada
Specific Biologics Inc. to Present Dualase® Genome Editing for the Precise Removal of Pathogenic Repeats in Repeat Expansion Disorders at the 28th Annual American Society for Gene and Cell Therapy Meeting
TORONTO, May 6, 2025 /CNW/ - Specific Biologics Inc., a biotechnology company advancing industry leading genome editing therapies, today announced it will present new preclinical data at the 28th Annual Meeting of the American Society for Gene and Cell Therapy (ASGCT), taking place May 13-17, 2025 in New Orleans, LA. The presentation will highlight the company's proprietary Dualase® genome editing platform and its therapeutic potential in repeat expansion disorders, a class of severe neurological and neuromuscular genetic diseases driven by abnormally expanded DNA sequences. These include disorders such as amyotrophic lateral sclerosis (ALS), Huntington's disease, Fragile X syndrome, and myotonic dystrophy, for which there are limited therapeutic options for patients and currently no curative treatments. Presentation Details: Title: Precise Removal of a Large Pathogenic Repeat Expansion In Vitro and In Vivo Using a Dual-guided TevCas9 (Dualase®) Genome Editor Encoded in a Single AAV Presenter: Dr. Brent Stead, CEO Date & Time: May 15 th, 2025 - 1:45 PM Central Time Location: NOLA Theater B, Abstract 185 "Our approach is designed to precisely and durably correct the root cause of repeat expansion disorders by excising pathogenic repeat DNA sequences and leave a non-pathogenic number of repeats with no detectable off targets," said Dr. Brent Stead, Chief Executive Officer of Specific Biologics Inc. "The disease-relevant cell and animal model data demonstrating precise repeat removal we will present is a first to our knowledge and marks a significant milestone in our mission to develop transformative, potential one-time treatments for patients who currently face progressive and devastating disease. ASGCT is the ideal venue to share our progress with the broader scientific and medical communities." Dualase® genome editors use a unique two-site mechanism to seamlessly remove, repair, or insert small or large sequences. Pathogenic repeat expansion lengths vary between patients and even within individual patients. The two-site mechanism allows Dualase® editing domains to be positioned within the repeat on either side of the expansion, enabling removal of the large pathogenic sequence, while preserving a non-pathogenic length of repeats for a highly differentiated therapeutic approach. With a compact coding size of 3.7 kilobases, Dualase® editors can be packaged into clinically and commercially validated delivery systems, including single adeno-associated viral (AAV) vectors, enabling delivery to traditionally hard-to-reach tissues like the central nervous system. The full abstract is available through the ASGCT website and will be accessible to conference attendees throughout the event. About Specific Biologics Inc. Specific Biologics is a venture-backed biotechnology company developing Dualase®, an industry-leading genome editing platform for precise, efficient, and programmable in vivo therapeutics. Dualase® achieves best-in-class accurate editing efficiency with undetectable off-target effects as demonstrated in preclinical cell and animal models at diverse targets and indications. Its unique two-site mechanism enables the seamless removal, repair, or insertion of both small and large DNA sequences, offering broad therapeutic potential. Specific Biologics has a focused pipeline of development candidates where Dualase® has a differentiated mechanism of action, coupled with single AAV or all-RNA delivery, with an initial focus on repeat expansion disorders.
