Latest news with #FMR1
Yahoo
23-06-2025
- Health
- Yahoo
GeneDx Announces American Academy of Pediatrics Recommends Exome and Genome Sequencing as First-Tier Tests for Children with Global Developmental Delay or Intellectual Disability
-- A milestone in pediatric medicine, general pediatricians are now expected to play a more active role in initiating genetic testing -- -- Earlier use of exome and genome testing delivers better clinical outcomes and reduces costs across the U.S. healthcare system1 -- -- GeneDx will lead education and adoption efforts to end the diagnostic odyssey -- GAITHERSBURG, Md., June 23, 2025--(BUSINESS WIRE)--GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, announces the American Academy of Pediatrics (AAP) issued updated guidance to now recommend exome and genome sequencing as first-tier tests for children with global developmental delay (GDD) or intellectual disability (ID) in most circumstances because of superior diagnostic yield and higher cost-effectiveness if pursued earlier in the diagnostic process2. For more than 60,000 pediatricians, this milestone marks a turning point in pediatric healthcare, ushering in earlier diagnosis, interventions, and improved outcomes for millions of children. "The AAP's updated guidance is a long-overdue validation of what many of us have known – earlier access to genomic testing leads to faster, more accurate diagnoses and better outcomes – and represents an important milestone in bringing genomics to the front line of pediatric medicine as we seek to protect children from unnecessary disease progression," said Katherine Stueland, President and CEO of GeneDx. "Exome and genome testing are no longer tests of last resort; they are now the first step, and there is no one better equipped than GeneDx to support pediatricians through this next chapter. We're ready to slash the average five-year diagnostic odyssey to a fraction of that time, drive down healthcare costs, and, most importantly, change children's lives sooner. Having driven innovation and advanced patient care through genomic testing, working in partnership with geneticists and pediatric specialists, GeneDx is best positioned to empower general pediatricians to take a leading role in early diagnosis and precision medicine." The new diagnostic approach underscores the growing recognition that pediatricians are the front line of genetic medicine and marks a major advancement by equipping these clinicians with actionable genomic insights to accelerate targeted treatments and end the burdensome diagnostic waiting period faced by too many families today. Previous guidance from AAP3 , published in 2014, recommended the use of narrow testing such as Chromosomal Microarray Analysis (CMA) and FMR1, both of which can be considered antiquated recommendations for these patient populations considering the advancements made with exome and genome testing, including the superior diagnostic yield, cost-effectiveness and speed to diagnosis. GeneDx is the leader in advancing genomic technologies, providing clinicians and patients with access to comprehensive exome and genome testing. With unparalleled expertise from sequencing more than 800,000 exomes and genomes – alongside millions of phenotypic data points – GeneDx has assembled one of the largest, rare disease datasets. GeneDx's standard exome and genome results are available in as little as three weeks, and insurance coverage for this testing continues to expand across the country, supported by coverage from major commercial payors and Medicaid programs. "Given general pediatricians depend on clinical guidance to provide the best possible care for our patients, this updated report will empower pediatricians to offer families the most current, evidence-based genetic testing — helping to shorten the often long and difficult diagnostic journey," said Dr. Deborah Ondrasik, General Pediatrician, Southcoast Health. "I'm thrilled to see the AAP update these recommendations to reflect just how far genetics have come in the past decade. This is a meaningful step forward for our patients and their families." With its recently launched brand campaign, Diagnosis is Power, GeneDx is educating clinicians and parents on the need for earlier genetic testing to accelerate answers and improve outcomes for more patients and families. Core to its mission, GeneDx believes in the power of diagnosis and envisions a world where any genetic disorder is diagnosed quickly to prevent disease progression and ensure long and healthy lives for all. About GeneDxAt GeneDx (Nasdaq: WGS), we believe that everyone deserves personalized, targeted medical care—and that it all begins with a genetic diagnosis. Fueled by one of the world's largest, rare disease data sets, our industry-leading exome and genome tests translate complex genomic data into clinical answers that unlock personalized health plans, accelerate drug discovery, and improve health system efficiencies. For more information, please visit and connect with us on LinkedIn, Facebook, and Instagram. Forward Looking StatementsThis press release may contain "forward-looking statements" within the meaning of Section 21E of the Securities Exchange Act of 1934, as amended, and the U.S. Private Securities Litigation Reform Act of 1995. These forward-looking statements generally are identified by the words "believe," "project," "expect," "anticipate," "estimate," "intend," "strategy," "future," "opportunity," "plan," "may," "should," "will," "would," "will be," "will continue," "will likely result," and similar expressions. Forward-looking statements are predictions, projections and other statements about future events that are based on current expectations and assumptions and, as a result, are subject to risks and uncertainties. Many factors could cause actual future events to differ materially from the forward-looking statements in this press release, including but not limited to: (i) our ability to implement business combinations, plans, goals and forecasts, and identify and realize additional opportunities, (ii) the risk of downturns and a changing regulatory landscape in the highly competitive healthcare industry, (iii) the size and growth of the market in which we operate, (iv) our ability to pursue our new strategic direction, and (v) our ability to enhance our artificial intelligence tools that we use in our clinical interpretation platform. The foregoing list of factors is not exhaustive. A further list and description of risks, uncertainties and other matters can be found in the "Risk Factors" section of our Annual Report on Form 10-K for the fiscal year ended December 31, 2024, and other documents filed by us from time to time with the SEC. These filings identify and address other important risks and uncertainties that could cause actual events and results to differ materially from those contained in the forward-looking statements. Forward-looking statements speak only as of the date they are made. Readers are cautioned not to put undue reliance on forward-looking statements, and we assume no obligation and do not intend to update or revise these forward-looking statements, whether as a result of new information, future events, or otherwise. We do not give any assurance that we will achieve our expectations. Lavelle TA, Feng X, Keisler M, et al. Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions. Genet Med. 2022;24(6):1349-1361. doi: 10.1016/ Rodan LH, et al. Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report. Pediatrics. 2025 Jun 23:e2025072219. doi: 10.1542/peds.2025-072219. Epub ahead of print. Moeschler JB, Shevell M; Committee on Genetics. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014 Sep;134(3):e903-18. doi: 10.1542/peds.2014-1839. View source version on Contacts Investor Relations Contact: Investors@ Media Contact: Press@ Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
Business Wire
23-06-2025
- Health
- Business Wire
GeneDx Announces American Academy of Pediatrics Recommends Exome and Genome Sequencing as First-Tier Tests for Children with Global Developmental Delay or Intellectual Disability
GAITHERSBURG, Md.--(BUSINESS WIRE)--GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, announces the American Academy of Pediatrics (AAP) issued updated guidance to now recommend exome and genome sequencing as first-tier tests for children with global developmental delay (GDD) or intellectual disability (ID) in most circumstances because of superior diagnostic yield and higher cost-effectiveness if pursued earlier in the diagnostic process 2. For more than 60,000 pediatricians, this milestone marks a turning point in pediatric healthcare, ushering in earlier diagnosis, interventions, and improved outcomes for millions of children. For more than 60,000 pediatricians, this milestone marks a turning point in pediatric healthcare, ushering in earlier diagnosis, interventions, and improved outcomes for millions of children. Share 'The AAP's updated guidance is a long-overdue validation of what many of us have known – earlier access to genomic testing leads to faster, more accurate diagnoses and better outcomes – and represents an important milestone in bringing genomics to the front line of pediatric medicine as we seek to protect children from unnecessary disease progression,' said Katherine Stueland, President and CEO of GeneDx. 'Exome and genome testing are no longer tests of last resort; they are now the first step, and there is no one better equipped than GeneDx to support pediatricians through this next chapter. We're ready to slash the average five-year diagnostic odyssey to a fraction of that time, drive down healthcare costs, and, most importantly, change children's lives sooner. Having driven innovation and advanced patient care through genomic testing, working in partnership with geneticists and pediatric specialists, GeneDx is best positioned to empower general pediatricians to take a leading role in early diagnosis and precision medicine.' The new diagnostic approach underscores the growing recognition that pediatricians are the front line of genetic medicine and marks a major advancement by equipping these clinicians with actionable genomic insights to accelerate targeted treatments and end the burdensome diagnostic waiting period faced by too many families today. Previous guidance from AAP 3 , published in 2014, recommended the use of narrow testing such as Chromosomal Microarray Analysis (CMA) and FMR1, both of which can be considered antiquated recommendations for these patient populations considering the advancements made with exome and genome testing, including the superior diagnostic yield, cost-effectiveness and speed to diagnosis. GeneDx is the leader in advancing genomic technologies, providing clinicians and patients with access to comprehensive exome and genome testing. With unparalleled expertise from sequencing more than 800,000 exomes and genomes – alongside millions of phenotypic data points – GeneDx has assembled one of the largest, rare disease datasets. GeneDx's standard exome and genome results are available in as little as three weeks, and insurance coverage for this testing continues to expand across the country, supported by coverage from major commercial payors and Medicaid programs. "Given general pediatricians depend on clinical guidance to provide the best possible care for our patients, this updated report will empower pediatricians to offer families the most current, evidence-based genetic testing — helping to shorten the often long and difficult diagnostic journey," said Dr. Deborah Ondrasik, General Pediatrician, Southcoast Health. "I'm thrilled to see the AAP update these recommendations to reflect just how far genetics have come in the past decade. This is a meaningful step forward for our patients and their families." With its recently launched brand campaign, Diagnosis is Power, GeneDx is educating clinicians and parents on the need for earlier genetic testing to accelerate answers and improve outcomes for more patients and families. Core to its mission, GeneDx believes in the power of diagnosis and envisions a world where any genetic disorder is diagnosed quickly to prevent disease progression and ensure long and healthy lives for all. About GeneDx At GeneDx (Nasdaq: WGS), we believe that everyone deserves personalized, targeted medical care—and that it all begins with a genetic diagnosis. Fueled by one of the world's largest, rare disease data sets, our industry-leading exome and genome tests translate complex genomic data into clinical answers that unlock personalized health plans, accelerate drug discovery, and improve health system efficiencies. For more information, please visit and connect with us on LinkedIn, Facebook, and Instagram. Forward Looking Statements This press release may contain 'forward-looking statements' within the meaning of Section 21E of the Securities Exchange Act of 1934, as amended, and the U.S. Private Securities Litigation Reform Act of 1995. These forward-looking statements generally are identified by the words 'believe,' 'project,' 'expect,' 'anticipate,' 'estimate,' 'intend,' 'strategy,' 'future,' 'opportunity,' 'plan,' 'may,' 'should,' 'will,' 'would,' 'will be,' 'will continue,' 'will likely result,' and similar expressions. Forward-looking statements are predictions, projections and other statements about future events that are based on current expectations and assumptions and, as a result, are subject to risks and uncertainties. Many factors could cause actual future events to differ materially from the forward-looking statements in this press release, including but not limited to: (i) our ability to implement business combinations, plans, goals and forecasts, and identify and realize additional opportunities, (ii) the risk of downturns and a changing regulatory landscape in the highly competitive healthcare industry, (iii) the size and growth of the market in which we operate, (iv) our ability to pursue our new strategic direction, and (v) our ability to enhance our artificial intelligence tools that we use in our clinical interpretation platform. The foregoing list of factors is not exhaustive. A further list and description of risks, uncertainties and other matters can be found in the 'Risk Factors' section of our Annual Report on Form 10-K for the fiscal year ended December 31, 2024, and other documents filed by us from time to time with the SEC. These filings identify and address other important risks and uncertainties that could cause actual events and results to differ materially from those contained in the forward-looking statements. Forward-looking statements speak only as of the date they are made. Readers are cautioned not to put undue reliance on forward-looking statements, and we assume no obligation and do not intend to update or revise these forward-looking statements, whether as a result of new information, future events, or otherwise. We do not give any assurance that we will achieve our expectations. Lavelle TA, Feng X, Keisler M, et al. Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions. Genet Med. 2022;24(6):1349-1361. doi: 10.1016/ Rodan LH, et al. Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report. Pediatrics. 2025 Jun 23:e2025072219. doi: 10.1542/peds.2025-072219. Epub ahead of print. Moeschler JB, Shevell M; Committee on Genetics. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014 Sep;134(3):e903-18. doi: 10.1542/peds.2014-1839. Expand
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
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.
