Meniere's Disease  Neuroscience Group

Meniere’s disease is a set of rare disorders of the inner ear defined by sensorineural hearing loss, episodic vertigo and roaring tinnitus. It is a debilitating condition of unknown etiology, where a personalised medicine approach is needed.

Most Meniere’s disease patients are considered sporadic, and 20 per cent of patients show an abnormal immune response with persistent levels of pro-inflammatory cytokines (IL1ß, TNFa, IL-6), leading to a systemic chronic inflammation. The trigger of this pro-inflammatory reaction is not known and it has been related with allergy, viral or bacterial infections.

Other subgroups of Meniere’s disease patients have migraine or an autoimmune disorder, including autoimmune thyroid disease or rheumatoid arthritis which require a multi-disciplinary approach to control the symptoms.

Familial Meniere’s disease is around 8-9 per cent in European descendent population and it may show autosomal dominant of recessive inheritance. By exome sequencing, we have identified rare variants in several genes including OTOG, MYO7A, TECTA in familial Meniere’s disease. These findings support the hypothesis that the interaction between hair cells stereocilia and the tectorial membrane in the organ of Corti or the otolithic membrane in the saccule play a central role in the pathogenesis of the disease. We plan to perform functional validation studies of these variants in cellular and animal models.

Chronic tinnitus is a common condition in Meniere’s disease patients and severe tinnitus is found in 1 per cent of the population. Tinnitus is considered a disorder when the condition is associated with sensorineural hearing loss, hyperacusis, anxiety and depression.  



Professor Jose Antonio Lopez-Escamez

Professor of Meniere disease Neuroscience

Faculty of Medicine and Health, School of Medical Sciences

The Kolling Institute, University of Sydney

Vibha Patil

Postdoctoral Research Associate

Yolanda Liu

Research Assistant

Pablo Cruz Granados

Honours Student

Prathamesh Nadar Ponniah

Research Fellow

Kristina Markova

Postdoctoral Research Associate

Tanvi Hussain

Master Student

Jacob Pogson

Senior Audiologist

Meniere’s disease Consortium, network of clinical centres in Europe

Explore the links below:

The Meniere’s Disease Neuroscience Program is an initiative of The University of Sydney to investigate the cellular and molecular bases of this condition and to identify molecular targets to develop personalised treatments.

Our new laboratory is located at the Kolling Institute, level 11, and will join the expertise of the Otology and Neurotology Group at the University of Granada with the added value of new laboratory members to develop an ambitious international multidisciplinary research program. The team will combine clinical and human multi-omic data (genomic, epigenomic, transcriptomics) and cellular and animal models to reveal the molecular mechanisms leading to Meniere's Disease and severe tinnitus.

Current projects:

Deciphering the genetics and inflammatory bases of Meniere’s disease and Tinnitus Disorder by combining multi-omic data and 3D cellular models.

Potential PhD projects

A. Modeling familial Meniere’s disease by developing patient-specific inner ear 3D cellular models and restoring the cellular phenotype by using gene editing technologies.

B. In vitro evaluation of the inner ear immune environment in Meniere’s disease during the interaction between human macrophages and inner ear organoids.

C. Mini-Brains to investigate severe tinnitus molecular basis.

D. Recreating the complexity of the native microenvironment in severe tinnitus to study tinnitus-related severity triggers or enhancers

E. Decoding the functional role of de novo and rare germline variation in polygenic inheritance in Meniere’s disease by trio analysis of genome and epigenome datasets. 

The University of Sydney - Professor Jose Antonio Lopez-Escamez

Gallego-Martinez A, Escalera-Balsera A, Trpchevska N, Robles-Bolivar P, Roman-Naranjo P, Frejo L, Perez-Carpena P, Bulla J, Gallus S, Canlon B, Cederroth CR, Lopez-Escamez JA. Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus. NPJ Genom Med. 2022 Nov 30;7(1):70. doi: 10.1038/s41525-022-00341-w. PMID: 36450758; PMCID: PMC9712652.

Roman-Naranjo P, Parra-Perez AM, Escalera-Balsera A, Soto-Varela A, Gallego-Martinez A, Aran I, Perez-Fernandez N, Bächinger D, Eckhard AH, Gonzalez-Aguado R, Frejo L, Lopez-Escamez JA. Defective α-tectorin may involve tectorial membrane in familial Meniere disease. Clin Transl Med. 2022 Jun;12(6): e829. doi: 10.1002/ctm2.829. PMID: 35653455; PMCID: PMC9162437.

Frejo L, Lopez-Escamez JA. Cytokines and Inflammation in Meniere Disease. Clin Exp Otorhinolaryngol. 2022 Feb;15(1):49-59. doi: 10.21053/ceo.2021.00920. Epub 2022 Feb 8. PMID: 35124944; PMCID: PMC8901949.

Flook M, Escalera-Balsera A, Gallego-Martinez A, Espinosa-Sanchez JM, Aran I, Soto-Varela A, Lopez-Escamez JA. DNA Methylation Signature in Mononuclear Cells and Proinflammatory Cytokines May Define Molecular Subtypes in Sporadic Meniere Disease. Biomedicines. 2021 Oct 25;9(11):1530. doi: 10.3390/biomedicines9111530. PMID: 34829759; PMCID: PMC8615058.

Moleon MDC, Torres-Garcia L, Batuecas-Caletrio A, Castillo-Ledesma N, Gonzalez-Aguado R, Magnoni L, Rossi M, Di Berardino F, Perez-Guillen V, Trinidad-Ruiz G, Lopez-Escamez JA. A Predictive Model of Bilateral Sensorineural Hearing Loss in Meniere Disease Using Clinical Data. Ear Hear. 2022 May/Jun;43(3):1079-1085. doi: 10.1097/AUD.0000000000001169. PMID: 34799494.

Roman-Naranjo P, Moleon MDC, Aran I, Escalera-Balsera A, Soto-Varela A, Bächinger D, Gomez-Fiñana M, Eckhard AH, Lopez-Escamez JA. Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease. Hear Res. 2021 Sep 15;409:108329. doi: 10.1016/j.heares.2021.108329. Epub 2021 Aug 2. PMID: 34391192.

Amanat S, Gallego-Martinez A, Sollini J, Perez-Carpena P, Espinosa-Sanchez JM, Aran I, Soto-Varela A, Batuecas-Caletrio A, Canlon B, May P, Cederroth CR, Lopez-Escamez JA. Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study. EBioMedicine. 2021 Apr;66:103309. doi: 10.1016/j.ebiom.2021.103309. Epub 2021 Apr 1. PMID: 33813136; PMCID: PMC8047463.

Roman-Naranjo P, Gallego-Martinez A, Soto-Varela A, Aran I, Moleon MDC, Espinosa-Sanchez JM, Amor-Dorado JC, Batuecas-Caletrio A, Perez-Vazquez P, Lopez-Escamez JA. Burden of Rare Variants in the OTOG Gene in Familial Meniere's Disease. Ear Hear. 2020 Nov/Dec;41(6):1598-1605. doi: 10.1097/AUD.0000000000000878. PMID: 33136635.

Perez-Carpena P, Lopez-Escamez JA. Current Understanding and Clinical Management of Meniere's Disease: A Systematic Review. Semin Neurol. 2020 Feb;40(1):138-150. doi: 10.1055/s-0039-3402065. Epub 2019 Dec 30. PMID: 31887752.

Gallego-Martinez A, Lopez-Escamez JA. Genetic architecture of Meniere's disease. Hear Res. 2020 Nov;397:107872. doi: 10.1016/j.heares.2019.107872. Epub 2019 Dec 13. PMID: 31874721.

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