Carolyn Mary Sue AM is an Australian neurologist, scientist, professor and research director. She has been the executive director of the Kolling Institute of Medical Research since 2019 and is also Director of Neurogenetics at Royal North Shore Hospital, Director of the Centre of Excellence for Parkinson's Disease and Movement Disorders, and Director of the National Centre for Adult Stem Cell Research (Sydney Node). [1] Sue specialises in complex neurogenetic conditions and runs tertiary referral clinics for patients with diseases such as Parkinson's, mitochondrial diseases, and other inherited movement disorders. [1] Her research has identified several previously unknown mutations that cause neurogenetic disease. [2]
Sue completed a medical degree at the University of New South Wales and a PhD at the University of Sydney in 1997. [1] [3] [4] She then received an NHMRC Neil Hamilton Fairley Postdoctoral Fellowship to conduct post-doctoral studies in the laboratory of Salvatore DiMauro at Columbia University in New York City. [3] In 2000, Sue returned to Sydney to direct her own research laboratory at the Kolling Institute of Medical Research. [3] In 2011, she established the Centre of Excellence for Parkinson's disease and Movement Disorders at Royal North Shore Hospital. [5]
Professor Sue holds multiple titles and was the inaugural Professor in Neurology at Royal North Shore Hospital. She is also a Founding Director of the Australian Mitochondrial Disease Foundation, President-Elect for the Movement Disorder Society of Australia and New Zealand, and co-chair of the Education Committee for the International Parkinson's Disease and Movement Disorder Society. [3]
Sue's research aims to improve our understanding of neurological disorders and develop new treatment options for patients. [1] Due to the Kolling Institute's close proximity and strong collaboration with the hospital, her work is highly translational and her laboratory is able to study cells taken from patients and induced into a stem cell state to elucidate the unique genetic diagnosis for individual patients. [1] This may assist in family planning when patients have a known genetic mutation that causes disease. [1]
Her laboratory currently runs several projects, [1] including:
Sue has published on the potential of mitochondrial donation as a potential strategy to tackle hereditary mitochondrial diseases. [6] Mitochondrial donation allows the replacement of defective mitochondria with healthy mitochondria in an unborn child, with requires the use assisted reproductive technologies to conceive a child from the genetic material of three persons. [6] However, as mitochondrial DNA contributes only to cellular bioenergetics and not any other characteristics of the child, the oocyte donor (i.e., the mitochondria donor) does not contribute to a child's unique genomic identity. [6] In 2022, Maeve's Law was passed by the Australian Parliament to legalise mitochondrial donation. [7] Sue's future work will likely involve preparing and supporting her patients if they choose to undergo the procedure. [8]
In 2016, Sue was awarded a Presidential Award by the International Parkinson's Disease and Movement Disorder Society. [9] In 2019, Sue was part of the Queen's Birthday Honours List and awarded a Member of the Order of Australia for significant services to medicine. [1] [9]
Sue is currently the executive director of the Kolling Institute of Medical Research, board member for the Brain and Mind Centre, and Professor of Neurology at the University of Sydney. She is also Founder and Director of the Centre of Excellence for Parkinson's Disease and Movement Disorders, Director of Neurogenetics, Director of the Mitochondrial Disease Clinic, Director of the Genetic Movement Disorders Clinic, Director of the Hereditary Spastic Paraplegia Clinic, and Director of the Advanced Therapies for Parkinson's Disease Clinic at the Royal North Shore Hospital. [9] In 2020 Sue was awarded [10] Academy elects 28 new Fellows. Carolyn Sue clinician scientist highly recognised with all the research [11] work done. Prof. Carolyn Sue was awarded $1.2 million for work done in precision diagnosis & patients with mitochondrial disease. [12]
Anita Elizabeth Harding was an Irish-British neurologist, and Professor of Clinical Neurology at the Institute of Neurology of the University of London. She is known for the discovery with Ian Holt and John Morgan-Hughes of the "first identification of a mitochondrial DNA mutation in human disease and the concept of tissue heteroplasmy of mutant mitochondrial DNA", published in Nature in 1986. In 1985 she established the first neurogenetics research group in the United Kingdom at the UCL Institute of Neurology.
Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs. HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, Strumpell disease, or Strumpell-Lorrain disease. The symptoms are a result of dysfunction of long axons in the spinal cord. The affected cells are the primary motor neurons; therefore, the disease is an upper motor neuron disease. HSP is not a form of cerebral palsy even though it physically may appear and behave much the same as spastic diplegia. The origin of HSP is different from cerebral palsy. Despite this, some of the same anti-spasticity medications used in spastic cerebral palsy are sometimes used to treat HSP symptoms.
Dystonia is a neurological hyperkinetic movement disorder in which sustained or repetitive muscle contractions occur involuntarily, resulting in twisting and repetitive movements or abnormal fixed postures. The movements may resemble a tremor. Dystonia is often intensified or exacerbated by physical activity, and symptoms may progress into adjacent muscles.
Primary lateral sclerosis (PLS) is a very rare neuromuscular disease characterized by progressive muscle weakness in the voluntary muscles. PLS belongs to a group of disorders known as motor neuron diseases. Motor neuron diseases develop when the nerve cells that control voluntary muscle movement degenerate and die, causing weakness in the muscles they control.
The Kolling Institute is located in the grounds of the Royal North Shore Hospital in St Leonards, Sydney Australia. The institute, founded in 1920, is the oldest medical research institute in New South Wales.
The MRC Mitochondrial Biology Unit is a department of the School of Clinical Medicine at the University of Cambridge, funded through a strategic partnership between the Medical Research Council and the University. It is located at the Addenbrooke’s Hospital / Cambridge Biomedical Campus site in Cambridge, England. The unit is concerned with the study of the mitochondrion, as this organelle has a varied and critical role in many aspects of eukaryotic metabolism and is implicated in many metabolic, degenerative, and age-related human diseases.
Kinesin family member 5A is a protein that in humans is encoded by the KIF5A gene. It is part of the kinesin family of motor proteins.
CYP2U1 is a protein that in humans is encoded by the CYP2U1 gene
Mitochondrial replacement therapy (MRT), sometimes called mitochondrial donation, is the replacement of mitochondria in one or more cells to prevent or ameliorate disease. MRT originated as a special form of in vitro fertilisation in which some or all of the future baby's mitochondrial DNA (mtDNA) comes from a third party. This technique is used in cases when mothers carry genes for mitochondrial diseases. The therapy is approved for use in the United Kingdom. A second application is to use autologous mitochondria to replace mitochondria in damaged tissue to restore the tissue to a functional state. This has been used in clinical research in the United States to treat cardiac-compromised newborns.
Neuroscience Research Australia is an independent, not for profit medical research institute based in Sydney, Australia. The institute is made up of over 400 researchers specialising in research to improve the lives of people living with brain and nervous system disorders. The institute’s research spans neurodegeneration, including dementia and Parkinson’s disease; mental health and mental illness including bipolar disorder and schizophrenia; and translational neuroscience including falls prevention, pain and injury prevention.
Kufor–Rakeb syndrome (KRS) is an autosomal recessive disorder of juvenile onset also known as Parkinson disease-9 (PARK9). It is named after Kufr Rakeb in Irbid, Jordan. Kufor–Rakeb syndrome was first identified in this region in Jordan with a Jordanian couple's 5 children who had rigidity, mask-like face, and bradykinesia. The disease was first described in 1994 by Najim Al-Din et al. The OMIM number is 606693.
David Charles is an American neurologist, professor and vice-chair of neurology, and the medical director of Telehealth at Vanderbilt University Medical Center.
Aleksandra Filipovska is an Australian biochemist and molecular biologist. She is a professor, Deputy Director of the ARC Centre of Excellence in Synthetic Biology and NHMRC Investigator at the University of Western Australia, heading a research group at the Telethon Kids Institute. Specializing in biochemistry and molecular biology, she has made contributions to the understanding of human mitochondrial genetics in health and disease.
Mitochondrial optic neuropathies are a heterogenous group of disorders that present with visual disturbances resultant from mitochondrial dysfunction within the anatomy of the Retinal Ganglion Cells (RGC), optic nerve, optic chiasm, and optic tract. These disturbances are multifactorial, their aetiology consisting of metabolic and/or structural damage as a consequence of genetic mutations, environmental stressors, or both. The three most common neuro-ophthalmic abnormalities seen in mitochondrial disorders are bilateral optic neuropathy, ophthalmoplegia with ptosis, and pigmentary retinopathy.
Patrick Francis Chinnery is a neurologist, clinician scientist, and Wellcome Trust Principal Research Fellow based in the Medical Research Council Mitochondrial Biology Unit and the University of Cambridge, where he is also professor of neurology and head of the department of clinical neurosciences.
Charalampos (Haris) Tzoulis is Professor of Neurology and Neurogenetics at the University of Bergen and Haukeland University Hospital, Bergen, Norway. He is a Consultant neurologist and co-Director of the Neuro-SysMed National Center for Clinical Treatment Research in neurological diseases, funded by the Norwegian Research Council. At the Neuro-SysMed Center, Prof. Tzoulis is research Director for neurodegeneration. In addition, in 2022, Prof. Tzoulis established the K.G. Jebsen Center for Translational Research in Parkinson's disease at the University of Bergen and Haukeland University Hospital, with funding from the K.G. Jebsen Foundation, focusing on better diagnostics and identification of disease subtypes in order to offer personalized treatments.
Spastic paraplegia 15 (SPG15) is a form of hereditary spastic paraplegia that commonly becomes apparent during childhood or adolescence. The disease is caused by mutations within the ZFYVE26 gene - also known as the SPG15 gene - and is passed down in an autosomal recessive manner.
Spastic paraplegia 6 is a rare type of hereditary spastic paraplegia characterized by muscle tone and bladder anomalies associated with pes cavus and specific hyperreflexia.
Christine Klein is a German physician who is a professor of neurology and neurogenetics at the University of Lübeck. Her research considers the molecular genetics of movement disorders. She is a Fellow of the European Academy of Neurology, former President of the German Neurological Society and incoming President of the European Section of the International Parkinson and Movement Disorder Society.
Carol Pollock is an Australian medical researcher specialising in kidney health and disease. She is a Clinical Professor of Medicine at the University of Sydney, Northern Clinical School, Kolling Institute of Medical Research. Her research interests also include obesity, diabetes, cardiovascular disease, healthy ageing and lifespan, employing animal models and cellular and molecular techniques. She is the Chair of Kidney Health Australia and was the Chair of Medicine Royal North Shore Hospital in 2011 to 2016.