Miguel Renteria leads the Computational Neurogenomics Laboratory within the Mental Health and Neuroscience Program at the QIMR Berghofer Medical Research Institute. He obtained his PhD in Human Genetics from the University of Queensland in 2014. He carried out postdoctoral research at the APDA Center for Advanced Research in Parkinson’s disease, Department of Neurology, Brigham & Women’s Hospital and Harvard Medical School in Boston, USA. Upon his return to Australia, he established the Australian Parkinson’s Genetics Study at the QIMR Berghofer Medical Research Institute, with support from the Shake It Up Australia and Michael J. Fox Foundations. His research leverages advanced analytics methods and clinical, genetic, and neuroimaging data from large global datasets to investigate the aetiology of complex neurodegenerative diseases. Among other accolades, Dr Renteria has been a recipient of the Enrico Greppi International Migraine Research Award (2021), the holder of an NHMRC Early Career Fellowship (2016-2020), a Chevening scholar (2015-2016), and an honorary member of Mexico’s National System of Investigators (since 2013). He is also an honorary Global Atlantic Fellow for Equity in Brain Health at the Global Brain Health Institute (since 2020).
Research
Parkinson’s disease (PD) is a progressive, neurodegenerative condition that affects >150,000 Australians and around 10 million people worldwide. It is the second most common neurological disorder in Australia and the fastest growing, with approximately 32 new cases every day. Although it has historically been defined as a movement disorder, due to its cardinal motor symptoms (i.e., rigidity, bradykinesia and resting tremor), individuals living with PD also present several non-motor symptoms, including cognitive impairment (e.g., executive dysfunction and attentional deficits), psychotic symptoms (e.g., visual hallucinations), mood disorders (i.e., depression, apathy, anxiety), autonomic dysfunction (e.g., orthostatic hypotension, urogenital incontinence, and constipation), loss of the sense of smell, chronic pain, and sleep disorders. The combination of motor and non-motor symptoms, and other comorbid conditions, impairs patients’ quality of life and increases stress for carers. Notably, the onset, intensity, and progression of the different clinical features of the disease and its comorbidities vary significantly from patient to patient, and the underlying mechanisms of such variation remain largely unknown.
The Australian Parkinson’s Genetics Study (APGS) is a nationwide study which aims to recruit and follow up a cohort of 10,000 people with PD from all over Australia to investigate how genetic and environmental factors influence the onset, symptoms, comorbidities, and progression of PD. APGS participants answer questions on medical history, family history, occupational and lifetime environmental exposures, prodromal and PD-related symptoms, physical and mental comorbidities, lifestyle factors, chronic pain, impulsivity, compulsivity, autonomic functions, sleep, physical activity, quality of life, care needs, among other aspects. In addition, their saliva samples are processed to extract and genotype their DNA using an Illumina whole-genome platform enriched for variants around genes implicated in PD and other neuropsychiatric conditions.
Dr Renteria and his team will apply methods from epidemiology, statistical genetics, and machine learning to analyse the APGS data and uncover genes and molecular pathways and mechanisms implicated in the disease that will enable them to identify the genetic drivers of PD risk, heterogeneity, and progression and to discover novel molecular targets to prevent, stop, modify or slow down disease progression.