American College of Medical Genetics and Genomics (ACMG) Clinical Genetics Meeting: Genomics presents new research highlighting underdiagnosis of rare genetic disorders

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Mar 12, 2026, 08:01 ET

New research advances genetic diagnosis
Demonstrates the potential to expand equitable access to treatment for patients living with rare inherited metabolic and neurodegenerative diseases

BALTIMORE, March 12, 2026 /PRNewswire/ -- Genomics , a science-led techbio company using large-scale genetic information to develop innovative precision healthcare tools and to accelerate drug discovery and development, today presented new research findings. This research provides new insights into the genetic epidemiology of three ultra-rare lysosomal storage disorders.

These three conditions share a similar genetic architecture and have childhood onset. Underdiagnosis continues to prevent patients from accessing life-saving treatment options. Genomics has partnered with BioMarin Pharmaceutical Inc. on advancing this research to enhance the understanding of genetically defined conditions, including mucopolysaccharidosis (MPS) IVA and VI and neuronal ceroid lipofuscinosis type 2 disease (CLN2).

Using data from multiple global biobanks incorporating whole-genome and whole-exome sequencing, the researchers characterised 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 ("disease hotspots").

This work improves understanding of the global distribution of disease-causing variants, supports earlier and more accurate genetic diagnosis, and has the potential to expand access to treatment for patients living with rare inherited metabolic and neurodegenerative diseases.

The research forms part of a broader, ongoing collaboration between BioMarin and Genomics. Under this agreement, 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.

Genomics' Founder and CEO, Prof Sir Peter Donnelly, said: "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."

Poster Presentations - Key Findings:

To learn more about Genomics, visit https://www.genomics.com/.

About Genomics

Genomics is a pioneering healthcare company that uses large-scale genetic information to develop innovative precision healthcare tools and bring new understanding to drug discovery. We were formed in 2014 by four world-leading statistical and human geneticists at the University of Oxford. Today, we are collaborating with the world's leading lifescience and healthcare organisations and helping them to predict, prevent, treat, and cure – dramatically reducing the human and financial cost of common diseases like cancer, diabetes, and heart disease.

SOURCE Genomics Limited