An online Menière Disease Atlas of Genes and Cells is launching to help with genetic diagnosis, evaluation and management of the condition.
Developed by Australian researchers at the University of Sydney, the website is a collaborative effort with Spanish, American, South Korean and Brazilian researchers.
This open resource is free and can be used by researchers and clinicians globally as a reference dataset to assist genetic diagnosis and evaluate immune responses in Menière disease patients, facilitating personalised medicine.
It can also be used by researchers for a better understanding of the molecular basis of hearing loss.
A launch of the new web portal for the atlas, which will introduce the resource and explain its use, will take place on 4 June 2025 at the Kolling Institute, The University of Sydney, and simultaneously on MS Teams.
The portal hosts the reference multiomic dataset which includes three databases of information – a genomics (DNA sequencing) database which contains variants from 425 Spanish people with Menière disease; an epigenomics (DNA methylation) database; and a transcriptomic database.
The atlas has combined independent sequencing projects from unrelated individuals of diverse ancestry, making summary data available for the wider scientific community. Its goal is to aggregate and harmonise the anonymised coding and non-coding DNA sequencing data, DNA methylation sequencing data and transcriptomic data from individuals with a clinical diagnosis of Menière disease.
Multiomics integrates data from multiple omics fields to gain more comprehensive understanding of biological systems.
An international coalition of investigators developed the resource. Participating institutions include The University of Sydney, the University of California at San Diego USA, Universidad de Granada, Spain, Yonsei University, Seoul, South Korea, and the State University of Campinas (UNICAMP,) Brazil.
Ms Kiana Bagheri, computer science research assistant in the Kolling Institute’s Menière Disease Neuroscience Laboratory, and several Masters students in data science at Macquarie University designed the web portal.
Jose Antonio Lopez Escamez, Professor of Menière disease and neurosciences at The University of Sydney’s Kolling Institute, said the resource would facilitate researchers and clinicians the molecular diagnosis and management of triggers for the condition.
“We have established collaboration agreement between The University of Sydney and several institutions to aggregate genomic data from patients with Menière disease,” Prof Lopez Escamez told Hearing Practitioner Australia.
“We are making possible to generate data in any country from a patient with Menière disease and use our web portal as a reference to support genetic diagnosis.
“We want to incorporate data from more countries to have representative data according to the ancestry of the population. Most current data are from the Western European population but non-European patients, including Asian individuals, do not have reference data.”
High rates of inflammation
The genomic dataset lists all variants and genes found in 425 patients with Menière disease.
“We continue working to increase the number of patients in Australia and globally,” Prof Lopez Escamez said.
“The cellular data are gene expression data (transcriptomic data) obtained from mononuclear cells (blood samples) to obtain the immune response in Menière disease patients.
“This is a way to understand if the patient has a persistent inflammation associated with the disease, a finding observed in 50% to 60% of patients.”
He said researchers and doctors could search for genes and immune dysfunction, comparing data from one patient with the dataset to see if other patients have the same genetic mutations and type of immune response.
In future this may assist with tailoring therapy to each patient based on their genetic profile to reduce symptoms or cure the disease.
“This is the goal – a personalised approach with specific recommendations,” Prof Lopez Escamez said. “Practice can change dramatically once most doctors perform genetic and immunological testing.
“The website is very user-friendly for clinicians and researchers. The web portal is not designed for patients, nor is it a diagnostic tool. Users will need some knowledge of molecular genetics to understand the webinar which will explain the website content and functionalities.”
Speakers and topics for the 90-minute webinar are:
- Professor James Elliott, director of the Kolling Institute and academic director of allied health and public health at The University of Sydney, who will provide an introduction.
- Professor Jose Antonio Lopez Escamez who will discuss personalised medicine in Menière
- Kiana Bagheri who will discuss searching genes for diagnosis using the web portal.
- Mr Pablo Cruz-Granados who will discuss searching for immune dysfunction in the portal. He is a PhD candidate at the University of Sydney whose research project at the Kolling Institute is trying to decipher the molecular basis of autoinflammation in Menière
- Professor Emerita Mary Chiarella AM from the Susan Wakil School of Nursing and Midwifery at The University of Sydney who will lead a Q&A session.
Viewing the launch from 3pm-4.30pm AEST on 4 June is free but people must register with their academic or professional email. Register here.
Patients wanting to have their genetic profile done can email meniereaustralia@sydney.edu.au
