Researchers from the Kolling Institute and the University of Sydney have joined with international collaborators from Spain, America, South Korea and Brazil to develop a website to improve the genetic diagnosis and management of Menière disease.
The Menière Disease Atlas of Genes and Cells is a free, open resource which can be used by researchers and clinicians globally as a reference dataset for diagnosis and personalised medicine.
It can be used by researchers to better understand the molecular basis of hearing loss.
The web portal hosts the reference multi-omic dataset which includes genomics, epigenomics and transcriptomic information.
Kiana Bagheri, computer science research associate in the Kolling Institute’s Menière Disease Neuroscience Lab, and several Masters students in data science at Macquarie University designed the web portal.
World leading researcher and head of the lab, Professor Jose Antonio Lopez Escamez said the resource will provide information for diagnosis and management of triggers for the condition.
“Our collaboration means it will be possible to generate data from patients from across the world to support the genetic diagnosis of the disease.
“We are working to incorporate data from more countries so we have a broader representation of the population.”
Inflammation key indicator
The genomic dataset lists all variants and genes found in 425 patients with Menière disease.
“By examining the gene expression data through blood samples, we are able to determine 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 per cent 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 our goal, a personalised approach,” said Prof Lopez Escamez.
“Practice can change quickly once most doctors perform genetic and immunological testing.”
Patients who would like to have their genetic profile assessed can email meniereaustralia@sydney.edu.au
The web portal can be accessed here:
If you have any questions, feedback, or suggestions about the portal, feel free to reach out at mdnl.atlas@sydney.edu.au