Genomics Presents Research on Underdiagnosis of Rare Genetic Disorders

New findings highlight potential to expand access to treatment for patients with rare inherited metabolic and neurodegenerative diseases.

Mar. 12, 2026 at 5:01pm

Got story updates? Submit your updates here. ›

Genomics, a science-led techbio company, presented new research at the American College of Medical Genetics and Genomics (ACMG) Clinical Genetics Meeting that provides insights into the genetic epidemiology of three ultra-rare lysosomal storage disorders. The research, conducted in partnership with BioMarin Pharmaceutical Inc., aims to enhance the understanding of genetically defined conditions, including mucopolysaccharidosis (MPS) IVA and VI and neuronal ceroid lipofuscinosis type 2 disease (CLN2), and identify regions where underdiagnosis may be particularly acute.

Why it matters

This research has the potential to support earlier and more accurate genetic diagnosis, leading to expanded access to life-saving treatment options for patients living with rare inherited metabolic and neurodegenerative diseases. By combining large-scale genomic data with deep statistical genetics expertise, the collaboration between Genomics and BioMarin demonstrates how genomics can be translated into meaningful clinical and commercial impact for rare disease populations worldwide.

The details

Using data from multiple global biobanks incorporating whole-genome and whole-exome sequencing, the researchers characterized the prevalence and geographic distribution of disease-causing mutations across diverse populations. This analysis refines current prevalence assumptions and identifies regions where underdiagnosis may be particularly acute, or "disease hotspots". The research forms part of a broader, ongoing collaboration between BioMarin and Genomics, where Genomics provides BioMarin with access to its specialist team of statistical geneticists and computational biologists, supporting the application of large-scale genomic data across drug development, clinical strategy, and market access.

  • The research was presented at the American College of Medical Genetics and Genomics (ACMG) Clinical Genetics Meeting on March 12, 2026.

The players

Genomics

A pioneering healthcare company that uses large-scale genetic information to develop innovative precision healthcare tools and bring new understanding to drug discovery. Genomics was formed in 2014 by four world-leading statistical and human geneticists at the University of Oxford and is now collaborating with leading life science and healthcare organizations.

BioMarin Pharmaceutical Inc.

A biopharmaceutical company that develops and commercializes innovative therapies for patients with serious and life-threatening rare and ultra-rare genetic diseases. Genomics is partnering with BioMarin to advance research and enhance the understanding of genetically defined conditions.

Prof Sir Peter Donnelly

The Founder and CEO of Genomics, a world-leading statistical and human geneticist.

Got photos? Submit your photos here. ›

What they’re saying

“By combining large-scale genomic data with deep statistical genetics expertise, the collaboration with BioMarin demonstrates how genomics can be translated into meaningful clinical and commercial impact for rare disease populations worldwide. We look forward to seeing this research collaboration continue to go from strength to strength.”

— Prof Sir Peter Donnelly, Founder and CEO, Genomics

What’s next

The research collaboration between Genomics and BioMarin is ongoing, with the goal of continuing to advance the understanding of genetically defined conditions and support earlier and more accurate genetic diagnosis to expand access to treatment for patients.

The takeaway

This research demonstrates the potential of combining large-scale genomic data and deep statistical genetics expertise to enhance the understanding of rare genetic disorders, identify underdiagnosed populations, and ultimately expand access to life-saving treatments for patients living with these rare and debilitating conditions.