A Father's Quest: Personal Investment Fuels AI-Driven Hope for Dup15q Syndrome

CAMBRIDGE, MA – April 13, 2026 – In a move that powerfully merges personal conviction with scientific innovation, Cambridge-based Quiver Bioscience has secured a strategic investment from the Porta family of Argentina. The funding is aimed directly at accelerating a promising new therapy for Dup15q syndrome, a severe and rare neurodevelopmental disorder with no current disease-modifying treatments. Driven by a father's love for his daughter who lives with the condition, the investment provides a critical catalyst for a therapeutic program that leverages artificial intelligence to target the genetic root of the disorder.

The investment will fund essential preclinical safety studies for Quiver's antisense oligonucleotide (ASO) program, a crucial step toward selecting a final drug candidate for clinical trials, with a target of the second half of 2026. This collaboration highlights a growing trend in biotechnology where patient advocacy and deeply personal funding are becoming powerful engines for progress in the challenging landscape of rare disease research.

The Unmet Need of a Devastating Disorder

Dup15q syndrome is a complex condition caused by the duplication of a small piece of chromosome 15, specifically the 15q11.2-q13.1 region. This genetic anomaly leads to the overexpression of several genes, most notably UBE3A, which is believed to be a primary driver of the syndrome's most debilitating symptoms. Affecting as many as 1 in 4,000 newborns, the disorder presents a formidable challenge for individuals and their families.

Symptoms are often severe and wide-ranging. They include moderate-to-severe hypotonia (low muscle tone), significant motor and language delays, and intellectual disability. A large percentage of individuals with Dup15q also meet the criteria for autism spectrum disorder (ASD). Perhaps most dangerously, the majority experience difficult-to-control epileptic seizures and face an increased risk of sudden unexpected death in epilepsy (SUDEP). Currently, care is entirely symptomatic—a constant battle to manage seizures, support development through intensive therapies, and address behavioral challenges. There are no treatments that address the underlying genetic cause.

"There are currently no disease-modifying treatments for Dup15q syndrome, a reality that affects thousands of families worldwide," said Graham T. Dempsey, Co-Founder and CEO of Quiver Bioscience. This stark reality underscores the profound unmet medical need and the urgency behind programs like Quiver's.

A Personal Mission Fuels a Scientific Quest

The financial backing from the Porta family is more than a strategic business decision; it is a deeply personal commitment. José A. Porta, President of the Argentinian family-owned company Porta Hnos S.A., has a daughter living with Dup15q syndrome. His family's investment is a direct effort to change the future for her and thousands of others.

"We see in Quiver an extraordinary team with the tools, the talent, and the vision to make a real treatment for Dup15q possible," said Mr. Porta. "As the father of a daughter living with this condition, this is not an ordinary investment — it is a deeply personal commitment to every family navigating this journey every single day. We are here to support them and to help ensure that all those living with Dup15q have access to a therapy as soon as possible."

This partnership was facilitated by the Dup15q Alliance, a non-profit patient advocacy group that has been a long-standing partner to Quiver. The Alliance works to connect families, researchers, and companies, fostering the exact kind of collaboration that can accelerate progress. "This investment is a powerful signal of what’s possible when families, science, and community come together around a shared goal," said Mike Porath, executive director of the Dup15q Alliance. "We see this as more than funding. It’s real momentum toward a future where Dup15q is treatable."

AI-Powered Precision Against a Complex Disorder

At the heart of this effort is Quiver Bioscience's cutting-edge technology. The company is pioneering a precision medicine approach designed to silence the excess UBE3A gene expression that drives Dup15q syndrome. To do this, they are developing an antisense oligonucleotide (ASO), a type of therapy that can be designed to find, bind to, and reduce the levels of a specific RNA molecule, thereby preventing the production of a target protein.

ASO technology has already proven its worth in the field of neurology. The landmark approval of nusinersen (Spinraza) for spinal muscular atrophy (SMA) transformed a fatal childhood disease into a manageable condition for many, demonstrating the profound potential of this therapeutic class. Quiver aims to replicate this success for Dup15q.

What sets Quiver's approach apart is its proprietary 'human functional intelligence platform.' The company has built a massive database by studying the electrical activity of millions of individual human neurons derived from patients. This immense dataset, comprising over 1.5 billion recorded action potentials, is analyzed by sophisticated artificial intelligence and machine learning (AI/ML) algorithms. This allows Quiver's scientists to model Dup15q syndrome at a cellular level, test how different ASO candidates affect neuronal function, and select the most promising molecules with greater precision and speed than traditional methods.

By using patient-derived cells, the platform provides a uniquely human-relevant model, de-risking the drug discovery process and increasing the probability that a candidate that works in the lab will also work in patients. Quiver has already used this platform to identify and optimize lead ASO candidates that successfully reduce UBE3A and rescue cellular defects in their Dup15q models.

Charting the Path Toward a Treatment

The investment from the Porta family will be the "catalyst towards achieving a critical milestone for Quiver’s ASO program," according to Dempsey. The funds are earmarked for the rigorous safety and tolerability studies required before a drug can enter human trials. These preclinical activities are designed to ensure the chosen ASO candidate is safe for administration in the central nervous system, a common hurdle for neurological drugs.

Should the program proceed as planned, Quiver anticipates selecting a final development candidate in the second half of 2026. From there, the company would navigate the regulatory pathway toward clinical trials. Given the severity and rarity of Dup15q syndrome, the therapy would likely be eligible for Orphan Drug Designation from regulatory bodies like the U.S. Food and Drug Administration (FDA). This status provides incentives such as market exclusivity and accelerated review pathways, designed to encourage the development of treatments for rare conditions.

For the thousands of families navigating the daily complexities of Dup15q syndrome, this fusion of personal commitment, patient advocacy, and cutting-edge science represents the most tangible hope yet for a future where the condition is treatable.