Faculty profile

Nancy Braverman

ResearcherHuman GeneticsMcGill University

This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a McGill University directory, so their courses may be missing. Find their university profile.

Nancy Braverman

Researcher

Human Genetics

Health Sciences

McGill University

Montreal, Quebec, Canada

Supervision signals

Has led research grants, which requires an independent research appointment. Ask their department whether they supervise graduate students.
15 publications in the last five years, latest in 2026.
Senior (last) author on 6 recent papers, a sign of leading a research group.
Principal investigator on 7 research grants (7 CIHR), most recently in 2024.
Supervisor on 1 trainee award (1 CIHR), most recently in 2025.

These signals come from public records, including CIHR, NSERC and SSHRC funding decisions. Ask the professor or the graduate program whether they are taking new students.

Academic metrics

Publications

Collaborators

Grants

Publications by year

Counts cover the publications linked to this profile. Citations and the h-index appear when the source records them.

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Signals and details

Research

Cta Enabling Studies Peroxisome Disorder Retinal Gene Therapy Aav Manufacturing Mouse Safety Studies Retinal Degeneration Clinlcal Outcome Measures Mouse Bodistribution

Latest papers

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials.
Journal of inherited metabolic disease · 2026
Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata.
Biomolecules · 2025
Loss of peroxisome function promotes oxidative stress-induced hematopoiesis.
Stem cells (Dayton, Ohio) · 2025

All 44 publications

Latest funding

From Imbalance to Equilibrium: Antisense Oligonucleotide Therapy Targeting Allelic Imbalance in PEX6 Zellweger Spectrum Disorder
CIHR · 2025 · Supervisor
$120,000
Toward clinical translation of retinal gene therapy for Zellweger Spectrum Disorder
CIHR · 2024 · Nominated PI
$1,137,500
Toward clinical translation of retinal gene therapy for Zellweger Spectrum Disorder
CIHR · 2023 · Nominated PI

All 10 grants and awards

44 publications.

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials.

Rudebeck M, Braverman N, Chang R, Enns GM, Ghosh A, Gorce M, Karall D, Sharma R, Shelkowitz E, Zori R, McNutt M

Journal of inherited metabolic disease2026

DOI: 10.1002/jimd.70156 PMID: 41651652

Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata.

Sankhe R, Williams MI, Fallatah W, Mackay L, Brown ML, Bhagwat P, Elsea SH, Braverman N, Wangler MF

Biomolecules2025

DOI: 10.3390/biom16010006 PMID: 41594547

Loss of peroxisome function promotes oxidative stress-induced hematopoiesis.

Schindhelm EA, Blake A, Constans MM, Braaten K, Thorn AL, Durose W, Lorentson M, Gupta AO, Orchard PJ, Braverman N, Raymond GV, Lund TC

Stem cells (Dayton, Ohio)2025

DOI: 10.1093/stmcls/sxaf054 PMID: 40729333

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

Cheung ACT, Di Pietro E, Argyriou C, Bareke E, D'Souza Y, Puri RD, Muhammed Shabeer P, Ganetzky R, Goldstein A, Vanderver A, Mohan S, Majewski J, Yergeau C, Braverman N

Molecular genetics and metabolism2025Senior author

DOI: 10.1016/j.ymgme.2025.109080 PMID: 40112482

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

Malone KE, Argyriou C, Zavacky E, Braverman N

Genetics in medicine open2025Senior author

DOI: 10.1016/j.gimo.2025.103431 PMID: 40519747

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

Omri S, Argyriou C, Pryce RS, Di Pietro E, Chaurand P, Braverman N

Journal of lipid research2025Senior author

DOI: 10.1016/j.jlr.2025.100771 PMID: 40058592

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S

Genetics in medicine : official journal of the American College of Medical Genetics2023

DOI: 10.1016/j.gim.2022.09.015 PMID: 36305855

Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.

İli EG, Gezdirici A, Di Pietro E, Yergeau C, Braverman N

American journal of medical genetics. Part A2022Senior author

DOI: 10.1002/ajmg.a.62959 PMID: 35986576

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.

Thistlethwaite LR, Li X, Burrage LC, Riehle K, Hacia JG, Braverman N, Wangler MF, Miller MJ, Elsea SH, Milosavljevic A

Scientific reports2022

DOI: 10.1038/s41598-022-10415-5 PMID: 35449147

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

Cheung A, Argyriou C, Yergeau C, D'Souza Y, Riou É, Lévesque S, Raymond G, Daba M, Rtskhiladze I, Tkemaladze T, Adang L, La Piana R, Bernard G, Braverman N

Neurogenetics2022Senior author

DOI: 10.1007/s10048-022-00684-7 PMID: 35106698

From Imbalance to Equilibrium: Antisense Oligonucleotide Therapy Targeting Allelic Imbalance in PEX6 Zellweger Spectrum Disorder

SupervisorCIHR2025DRA : Canada Graduate Research Scholarship - Doctoral Program (CGRS D)

Principal investigators: Zavacky, Evelyn M

Keywords: Cell Biology; Molecular Biology; Patient Fibroblasts; Peroxisomal Disorders; Personalized Therapy; Regulatory Genetics; Rna Therapy

$120,000

Toward clinical translation of retinal gene therapy for Zellweger Spectrum Disorder

Nominated PICIHR2024Operating Grant:Bringing Rare Disease Gene Therapies to Clinical Trial Readiness

Principal investigators: Braverman, Nancy E; Koenekoop, Robert K; Benson, Matthew D

Keywords: Aav Manufacturing; Cta Enabling Studies; Mouse Safety Studies; Peroxisome Disorder; Retinal Gene Therapy

$1,137,500

Toward clinical translation of retinal gene therapy for Zellweger Spectrum Disorder

Nominated PICIHR2023Op. Grant :Bringing Rare Disease Gene Therapies to Clinical Trial Readiness- LOI

Principal investigators: Braverman, Nancy E; Koenekoop, Robert K; Benson, Matthew D

Keywords: Aav Manufacturing; Cta Enabling Studies; Mouse Safety Studies; Peroxisome Disorder; Retinal Gene Therapy

Enabling commercialization of retinal gene therapy for Zellweger Spectrum Disorder

Nominated PICIHR2022Project Grant

Principal investigators: Braverman, Nancy E

Keywords: Clinlcal Outcome Measures; Cta Enabling Studies; Mouse Bodistribution; Mouse Toxicity; Peroxisome Disorder; Prospective Natural History Study; Retinal Gene Therapy

$1,503,225

Developing retinal gene augmentation therapy for Zellweger Spectrum Disorder

Nominated PICIHR2019Project Grant

Principal investigators: Braverman, Nancy E

Keywords: Mouse Model Of Genetic Disease; Peroxisome Dysfunction; Pex1; Retinal Degeneration; Retinal Gene Augmentation Therapy; Zellweger Spectrum Disorder

$933,300

Getting Ready for Vision Therapy in Peroxisome Biogenesis Disorders

Nominated PICIHR2016Project Grant

Principal investigators: Braverman, Nancy E; Koenekoop, Robert K; Lachapelle, Pierre

Keywords: Clinical Trial Endpoints; Drug Treatment; Mouse Models; Natural History Studies; Orphan Diseases; Peroxisome Diseases; Peroxisome Metabolic Pathways; Retinal Degeneration

$959,310

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

Nominated PICIHR2015Team Grant: E-Rare Joint Transnational Call

Principal investigators: Braverman, Nancy E

Keywords: Drug Therapies; Model Systems Of Disease; Molecular Medicine; Natural History Of Disease; Patient Registries; Peroxisome Biogenesis Disorders; Plasmalogen Replacement Therapy

$324,810

A novel therapeutic treatment for Zellweger Spectrum Disorder

Co-investigatorCIHR2015Proof of Principle Program - Phase I

Principal investigators: Kim, Peter K

Keywords: Autophagy Inhibitor; Drug Study; Orphan Disease; Peroxisome Biogenesis Disorder

$160,000

The Peroxisome Biogenesis Disorders: From Bench to Bedside

Nominated PICIHR2012Operating Grant

Principal investigators: Braverman, Nancy E

Keywords: Cell Biology; Clinical Research; Drug Screening; Human Genetics; Model Organisms Of Disease; Peroxisome Disorders

$698,311

Vitamin B12 in Health and Disease

Co-investigatorCIHR2008Emerging Team Grant: From Genes to Proteins, Cells, Tissues and Patients - LOI

Principal investigators: Rosenblatt, David S

Keywords: Animal Models; Inborn Errors Of Metabolism; Protein Structure And Function; Small Molecule Screening; Vitamin B12

From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.

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Nancy Braverman

Research

Latest papers

Latest funding

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials.

Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata.

Loss of peroxisome function promotes oxidative stress-induced hematopoiesis.

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

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

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

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3&#xa0;(RCDP3) with two novel families, and a review of the literature.

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.

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

Frequent collaborators

Jacek Majewski

Myriam Srour

John Mitchell

Annette Majnemer

Eric Shoubridge

Elsa Rossignol

Alexandre Orthwein

Spencer Freeman

Roberta La Piana

Indra Gupta

Myriam Srour

Indra Gupta

Daniela Pohl

Geneviève Bernard

Brian Raught

Pierre Lachapelle

Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.