Nancy Braverman

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Professor

McGill University Faculty of Medicine

Canada

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About

Dr. Nancy Braverman is a Professor at McGill University Faculty of Medicine and Health Sciences in Canada. Her research primarily focuses on peroxisome biogenesis disorders, including the clinical and molecular characterization of related conditions. Recent articles highlight her work on spatial characterization in mouse models and the estimation of population prevalence for Zellweger spectrum disorder. Additionally, she explores the impact of genetic variations on neurological conditions and the experiences of families dealing with inherited disorders.

Recent Grants

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Developing retinal gene augmentation therapy for Zellweger Spectrum Disorder

Open Date: 2020-04-01

Close Date: 2025-03-31

Grant: Close

Getting Ready for Vision Therapy in Peroxisome Biogenesis Disorders

Open Date: 2017-04-01

Close Date: 2022-03-31

Grant: Close

Translating Peroxisome Biogenesis Disorders: Identifying Pharmacological Therapies and Clinical Trial Endpoints (PERescue)

Open Date: 2016-04-01

Close Date: 2019-03-31

Grant: Close

A novel therapeutic treatment for Zellweger Spectrum Disorder

Open Date: 2015-10-01

Close Date: 2016-09-30

Grant: Close

E-RARE 3 (JTC 2015) - Translating Peroxisome Biogenesis Disorders: Identifying Pharmacological Therapies and Clinical Trial Endpoints [PERescue]

Open Date: 2015-04-01

Close Date: 2018-03-31

Articles (13)

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2025

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2021

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2021

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2021

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2021

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2021

Collaborators (8)

Luan T Tran

CANADA

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Bruno K Podesser

Medical University of Vienna

AUSTRIA

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Roberta La Piana

Assistant Professor

Montreal Neurological Institute and Hospital

CANADA

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Esther Nuebel

Assist. Professor - Biochemistry

UNITED STATES

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Johannes Berger

Medical University of Vienna

AUSTRIA

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Attila Kiss

Assistant Professor

Medical University of Vienna

AUSTRIA

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Jacob Winter

University of Utah

UNITED STATES

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Stefan Kummer

University of Veterinary Medicine Vienna

AUSTRIA

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Nancy Braverman

Research Interests

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About

Recent Grants

Articles (13)

Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.

Spatial characterization of RPE structure and lipids in the PEX1-p.Gly844Asp mouse model for Zellweger spectrum disorder.

Estimation of PEX1-mediated Zellweger spectrum disorder births and population prevalence by population genetics modeling

Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency

Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review

Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.

Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.

Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic.

A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.

AAV-mediated <i>PEX1</i> gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder.

First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean's founder population.

The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder.

Clinical utility of methionine restriction in adenosine kinase deficiency.

Collaborators (8)

Luan T Tran

Bruno K Podesser

Roberta La Piana

Esther Nuebel

Johannes Berger

Attila Kiss

Jacob Winter

Stefan Kummer

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