Quiver Bioscience joins forces with Dup15q Alliance to develop ASO therapy for rare neurological disorder

Quiver Bioscience has partnered with the Dup15q Alliance to accelerate the development of a novel antisense oligonucleotide (ASO) therapy for Dup15q syndrome treatment, a rare genetic disorder with no current disease-modifying treatments. This collaboration leverages Quiver’s Genomic Positioning System, a precision research platform that integrates artificial intelligence (AI), machine learning (ML), and human neuronal electrophysiology to identify and optimize potential therapies.

Dup15q syndrome is a severe neurodevelopmental disorder that affects approximately one in 4,000 live births, causing intellectual disability, epilepsy, hypotonia, and autism spectrum disorder (ASD). Most affected individuals experience recurrent seizures and face an elevated risk of sudden unexpected death in epilepsy (SUDEP). The condition is associated with chromosome 15q duplication, which results in excessive expression of the UBE3A gene—a factor also implicated in Angelman syndrome, a related disorder caused by the gene’s loss of function.

With ASO therapeutics for Angelman syndrome already in clinical trials, researchers believe a similar approach could offer disease-modifying potential for Dup15q syndrome treatment. The partnership between Quiver Bioscience and the Dup15q Alliance formalizes years of research collaboration and seeks to advance ASO drug candidates into preclinical testing.

What Is Quiver Bioscience’s Genomic Positioning System, and Why Is It Important?

Quiver Bioscience’s Genomic Positioning System (GPS) is a proprietary platform that integrates single-cell neuronal electrophysiology data with AI and ML-driven analytics to accelerate drug discovery for central nervous system (CNS) disorders. Unlike conventional drug development approaches, which often rely on animal models, GPS enables direct modeling of human neurological diseases at the cellular level.

By using induced pluripotent stem cells (iPSCs) derived from patients, Quiver’s Brain GPS technology provides unprecedented insights into neuronal activity, gene expression, and disease progression. This allows researchers to identify, optimize, and validate ASO candidates capable of reducing UBE3A overexpression, potentially reversing key aspects of Dup15q syndrome pathology.

Dr. Graham Dempsey, Founder and Chief Scientific Officer at Quiver Bioscience, emphasized that this technology-driven approach offers a new frontier in precision medicine, enabling researchers to develop therapies tailored to specific genetic variations. By applying AI-powered drug screening, Quiver aims to expedite the discovery of effective treatments while reducing the time and costs typically associated with neurological drug development.

How Could Antisense Oligonucleotide Therapy Help Treat Dup15q Syndrome?

Antisense oligonucleotide therapy is an innovative approach designed to modulate gene expression by targeting specific RNA sequences. In the context of Dup15q syndrome treatment, ASO therapy aims to reduce UBE3A protein levels, restoring a balance that could alleviate seizures, cognitive impairments, and motor dysfunction associated with the disorder.

ASO therapies have gained significant traction in recent years, with the U.S. Food and Drug Administration (FDA) granting approvals for multiple neuromuscular and neurodegenerative conditions, including spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). Encouragingly, ASO-based treatments for Angelman syndrome, a disorder with genetic parallels to Dup15q syndrome, have already demonstrated early promise in clinical trials.

By leveraging its Genomic Positioning System, Quiver Bioscience seeks to develop precisely targeted ASO drug candidates capable of modulating UBE3A overexpression. The Dup15q Alliance, a nonprofit organization dedicated to supporting research and patient advocacy, will play a critical role in advancing these therapeutics into preclinical studies.

Mike Porath, Executive Director of the Dup15q Alliance, underscored the urgency of this collaboration, stating that families affected by Dup15q syndrome have long awaited meaningful treatment options. He emphasized that this partnership represents a step toward delivering transformative therapies that could improve patient outcomes.

How Quiver Bioscience’s Research in Fragile X Syndrome Supports ASO Development

Beyond its work on Dup15q syndrome treatment, Quiver Bioscience has also made significant strides in Fragile X syndrome research. The company recently published a peer-reviewed study in Nature Communications Biology, showcasing how its Genomic Positioning System can be applied to model Fragile X syndrome (FXS)—the most common genetic cause of intellectual disability and autism spectrum disorder.

Fragile X syndrome is caused by a loss of function in the FMR1 gene, leading to deficits in neuronal signaling and cognitive function. Individuals with FXS often experience delayed speech development, seizures, and hypersensitivity to sensory stimuli. With no approved disease-modifying treatments, researchers have sought to develop therapies that can restore normal neuronal function.

In its groundbreaking study, Quiver Bioscience used patient-derived iPSCs and CRISPR/Cas9 genome editing to generate high-resolution cellular models of Fragile X neurons. By applying AI and ML-driven analysis, researchers identified distinct electrophysiological abnormalities in FXS neurons, which were fully reversed upon restoration of FMRP protein levels.

Dr. James Fink, lead author of the study, highlighted that this research establishes a scalable, high-throughput screening system for identifying potential drug candidates. Notably, this same AI-powered platform is now being applied to Dup15q syndrome treatment, reinforcing Quiver’s commitment to advancing precision medicine for neurodevelopmental disorders.

What This Means for the Future of Precision Neuroscience

As the field of genetic medicine continues to evolve, collaborations between biotechnology companies and patient advocacy organizations are becoming increasingly vital. The partnership between Quiver Bioscience and the Dup15q Alliance exemplifies how AI-driven drug discovery can accelerate the development of targeted treatments for rare neurological disorders.

With the successful application of its Genomic Positioning System in Fragile X syndrome research, Quiver Bioscience is well-positioned to expand its ASO pipeline and push the boundaries of precision neuroscience. By integrating AI, ML, and advanced human neuronal modeling, the company is paving the way for next-generation therapies that could transform the treatment landscape for central nervous system disorders.