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Invited Speaker: Professor Laura Bannach Jardim - DNA repair genes and ATXN2 change the age at onset of MJD

Wednesday, May 7, 2025
9:40 AM - 10:20 AM
DoubleTree by Hilton

Details

Professor Jardim will share her transformative research and its potential to reshape therapeutic approaches for MJD, SCA 7, and other SCAs. Including information about DNA repair genes and ATXN2  age at onset of MJD; whether smoking and variants related to nicotine can delay the onset of MJD and Rural life as risk factor for the age at onset of MJD.


Speaker

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Professor Laura Bannach Jardim
Professor
Universidade Federal Do Rio Grande Do Sul

DNA repair genes and ATXN2 change the age at onset of MJD

Abstract

Biography

Laura is a Full Professor in the Department of Internal Medicine at the Federal University of Rio Grande do Sul (UFRGS), where she has worked since 1993. She graduated in Medicine at UFRGS (1983), completed her residency in Neurology (Hospital de Clínicas de Porto Alegre, HCPA) (1986), and received her Master's (1993) and PhD degrees (2000) in Medical Sciences also at UFRGS. She is currently a Permanent Doctoral Advisor for the Postgraduate Programs in Genetics and Molecular Biology (PPGBM) and Medical Sciences (PPGCM) at the same university. She is a Professor in the Medical Genetics Service at the Hospital de Clínicas de Porto Alegre (HCPA), where she organized the Neurogenetics Program. She is the contact researcher and PI at the Clinical Research Center in Neurogenetics of the same hospital. Her main research interests focus on clinical and molecular aspects of neurogenetic conditions, mainly polyglutaminopathies such as spinocerebellar ataxias (SCAs) and Huntington's disease (HD). Her main contributions to this field of knowledge were: the determination of prevalence rates of several SCAs, Friedreich ataxia and HD in Brazil; showing that selective forces such as genetic fitness and segregation distortion have an important role in SCAs, and proposing a mathematical model to predict the CAG expansion dynamics through generations; showing that population-specific effects modify the age of onset of SCA3/MJD; the description of neurological manifestations and their correlations with the causal modifiers in SCA3/MJD, SCA2, SCA7 and SCA10; prospective studies (natural history) of SCA3/MJD, SCA2, SCA10 and HD; raising potential biomarkers for these disorders; conducting the randomized clinical trial on safety and efficacy of lithium on SCA3/MJD; describing clinical, cognitive, neuroimaging and biomarker changes and their longitudinal progression in premanifest SCA3/MJD carriers.
Agenda Item Image
Professor Laura Bannach Jardim
Professor
Universidade Federal Do Rio Grande Do Sul

Smoking and genes related to nicotine can delay the onset of MJD?

Abstract

Biography

Laura is a Full Professor in the Department of Internal Medicine at the Federal University of Rio Grande do Sul (UFRGS), where she has worked since 1993. She graduated in Medicine at UFRGS (1983), completed her residency in Neurology (Hospital de Clínicas de Porto Alegre, HCPA) (1986), and received her Master's (1993) and PhD degrees (2000) in Medical Sciences also at UFRGS. She is currently a Permanent Doctoral Advisor for the Postgraduate Programs in Genetics and Molecular Biology (PPGBM) and Medical Sciences (PPGCM) at the same university. She is a Professor in the Medical Genetics Service at the Hospital de Clínicas de Porto Alegre (HCPA), where she organized the Neurogenetics Program. She is the contact researcher and PI at the Clinical Research Center in Neurogenetics of the same hospital. Her main research interests focus on clinical and molecular aspects of neurogenetic conditions, mainly polyglutaminopathies such as spinocerebellar ataxias (SCAs) and Huntington's disease (HD). Her main contributions to this field of knowledge were: the determination of prevalence rates of several SCAs, Friedreich ataxia and HD in Brazil; showing that selective forces such as genetic fitness and segregation distortion have an important role in SCAs, and proposing a mathematical model to predict the CAG expansion dynamics through generations; showing that population-specific effects modify the age of onset of SCA3/MJD; the description of neurological manifestations and their correlations with the causal modifiers in SCA3/MJD, SCA2, SCA7 and SCA10; prospective studies (natural history) of SCA3/MJD, SCA2, SCA10 and HD; raising potential biomarkers for these disorders; conducting the randomized clinical trial on safety and efficacy of lithium on SCA3/MJD; describing clinical, cognitive, neuroimaging and biomarker changes and their longitudinal progression in premanifest SCA3/MJD carriers.
Agenda Item Image
Professor Laura Bannach Jardim
Professor
Universidade Federal Do Rio Grande Do Sul

Rural life as risk factor for the age at onset of MJD

Abstract

Biography

Laura is a Full Professor in the Department of Internal Medicine at the Federal University of Rio Grande do Sul (UFRGS), where she has worked since 1993. She graduated in Medicine at UFRGS (1983), completed her residency in Neurology (Hospital de Clínicas de Porto Alegre, HCPA) (1986), and received her Master's (1993) and PhD degrees (2000) in Medical Sciences also at UFRGS. She is currently a Permanent Doctoral Advisor for the Postgraduate Programs in Genetics and Molecular Biology (PPGBM) and Medical Sciences (PPGCM) at the same university. She is a Professor in the Medical Genetics Service at the Hospital de Clínicas de Porto Alegre (HCPA), where she organized the Neurogenetics Program. She is the contact researcher and PI at the Clinical Research Center in Neurogenetics of the same hospital. Her main research interests focus on clinical and molecular aspects of neurogenetic conditions, mainly polyglutaminopathies such as spinocerebellar ataxias (SCAs) and Huntington's disease (HD). Her main contributions to this field of knowledge were: the determination of prevalence rates of several SCAs, Friedreich ataxia and HD in Brazil; showing that selective forces such as genetic fitness and segregation distortion have an important role in SCAs, and proposing a mathematical model to predict the CAG expansion dynamics through generations; showing that population-specific effects modify the age of onset of SCA3/MJD; the description of neurological manifestations and their correlations with the causal modifiers in SCA3/MJD, SCA2, SCA7 and SCA10; prospective studies (natural history) of SCA3/MJD, SCA2, SCA10 and HD; raising potential biomarkers for these disorders; conducting the randomized clinical trial on safety and efficacy of lithium on SCA3/MJD; describing clinical, cognitive, neuroimaging and biomarker changes and their longitudinal progression in premanifest SCA3/MJD carriers.
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