PREVIOUSLY FUNDED RESEARCH PROJECTS
(SINCE 2017)

A NETWORK OF GROUNDBREAKING RESEARCHERS

The Hereditary Disease Foundation has a strong history of funding groundbreaking research by some of the world’s leading scientists to advance the discovery and development of treatments for Huntington’s disease and other brain disorders.

Osama Al-Dalahmah, MD, DPhil
Institution: Columbia University Medical Center, NY
Project Title: (2019) The regional heterogeneity of Huntington's disease pathology: Clues from diverse astrocytic responses
Project Title: (2020) Studying Huntington’s disease astrocytes in different parts of the brain: A regional study of the landscape of gene expression at the single cell level
2020 Nancy S. Wexler Young Investigator Prize

Cheryl Arrowsmith, PhD
Institution: University of Toronto, Ontario, Canada
Project Title: (2020) Unravelling the connections between the Huntington’s disease protein and our genetic material

Cheryl Arrowsmith, PhD with Rachel Harding, PhD
Institution: University of Toronto, Ontario, Canada
Project Title: (2021) Unravelling the connections between the Huntington’s disease protein and our genetic material

Anne Ast, PhD
Mentor: Erich E. Wanker, PhD
Institution: Max-Delbrück-Center for Molecular Medicine, Germany
Project Title: (2018) Manipulating seeding activity and proteotoxicity of amyloidogenic HTT aggregates by targeted amino acid exchanges

Natalia Moreira Barbosa, PhD
Mentor: Judith Frydman, PhD
Institution: Stanford University, Palo Alto, CA
Project Title: (2022) Linking Proteostasis and Mitochondrial dysfunction in Huntington’s Disease
2022 Nancy S. Wexler Young Investigator Prize

Costanza Ferrari Bardile, PhD
Mentor: Mahmoud Pouladi, PhD
Institution: University of British Columbia, Vancouver, Canada
Project Title: (2021) Understanding the role of oligodendroglia, brain cells that support neurons, in the pathology of Huntington’s disease

Kristina Becanovic, PhD
Institution: Karolinska Institutet, Sweden
Project Title: (2017) Towards the discovery of genetic modifiers and targets for future Huntington’s disease treatments 

Abdellatif Benraiss, PhD
Institution: University of Rochester, NY
Project Title: (2020) White matter role in the pathology of Huntington's disease  

Marta Biagioli, PhD
Institution: University of Trento, Italy
Project Title: (2022) A circular RNA molecule to modify Huntington’s disease phenotypes 

Veronica Ines Brito, PhD
Institution: University of Barcelona Instituto de Neurosciencias, Spain
Project Title: (2020) Exploring the role of RNA editing on the generation of pathogenic huntingtin fragments 

Lauren Byrne, PhD
Mentor: Edward Wild, MD, PhD
Institution: University College London (UCL) Institute of Neurology, United Kingdom
Project Title: (2019) Advancing biofluid biomarkers for disease-modifying trials in Huntington’s disease

Mariacristina Capizzi
Institution: Paris Brain Institute, France
Project Title: (2022) Repairing the communication between brain cells in HD

Marie-Francoise Chesselet, MD, PhD
Institution: David Geffen School of Medicine at UCLA
Project Title: (2017) Preclinical evaluation of D-PUFAs as a therapeutic intervention for HD 

Yoon H. Cho, PhD
Institution: University of Bordeaux, France
Project Title: (2017) Sleep as a window for a therapeutic clue against Huntington’s disease 

Beverly Davidson, PhD with David Leib, PhD
Institution: Children's Hospital of Philadelphia, PA
Project Title: (2021) New gene therapy delivery approaches for Huntington’s disease
2015 Leslie Gehry Prize for Innovation in Science (Davidson)

Amit Laxmikant Deshmukh, PhD
Mentor: Christopher E. Pearson, PhD
Institution: The Hospital for Sick Children (SickKids), Toronto, Ontario, Canada
Project Title: (2020) Role of FAN1 protein as modifier of the CAG repeat mutation in Huntington’s disease

Rivka Dikstein, PhD
Institution: The Weizmann Institute of Science, Rehovot, Israel
Project Title: (2019) Unraveling the role of Spt4/Spt5 in inherited neurodegenerative diseases using newly discovered pharmacological tools

Hassan Fakih, PhD
Mentor: Anastasia Khvorova, PhD
Institution: University of Massachusetts Chan Medical School, Worcester, MA
Project Title: (2022) Developing nucleic acid nanoparticles for improved RNAi therapeutics to treat Huntington’s disease

Steven Finkbeiner, MD, PhD with Leslie Thompson, PhD
Institution: The J. David Gladstone Institutes; University of California, San Francisco
Project Title: (2017) Assessment of WGS-derived genetic modifiers in differentiated HD-derived iPSCs
2013 Leslie Gehry Prize for Innovation in Science (Thompson)
2022 Leslie Gehry Prize for Innovation in Science (Finkbeiner) 

Brent Fitzwalter, PhD
Mentor: Myriam Heiman, PhD
Institution: Broad Institute of Massachusetts Institute of Technology and Harvard University
Project Title: (2019) Neuroprotection in Huntington’s Disease

Terence Gall-Duncan, PhD
Mentor: Christopher E. Pearson, PhD
Institution: The Hospital for Sick Children (SickKids), Toronto, Ontario, Canada
Project Title: (2022) Reversing the expansion mutation that causes Huntington’s disease

Michelle Gray, PhD with Marissa Dean, MD and Steven Pogwizd, MD
Institution: University of Alabama at Birmingham
Project Title: (2021) Heart problems in Huntington’s disease

Carolina Gubert, PhD
Mentor: Anthony Hannan, PhD
Institution: The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Australia
Project Title: (2021) Targeting the gut bugs in Huntington's disease: Identifying novel therapeutic opportunities

Rachel Harding, PhD with Cheryl Arrowsmith, PhD
Institution: University of Toronto, Ontario, Canada
Project Title: (2021) Unravelling the connections between the Huntington’s disease protein and our genetic material 

Sarah Hernandez, PhD
Mentor: Leslie Thompson, PhD
Institution: University of California, Irvine
Project Title: (2021) Understanding how connections between cells can affect permeability of the brain in HD
2021 Nancy S. Wexler Young Investigator Prize

Richard A. Hickman, MD
Institution: Columbia University Medical Center, NY
Project Title: (2019) Generation of Striatal Neurons from HD patient-derived fibroblasts: a feasibility study with direct correlation to human neuropathology

Richard A. Hickman, MD with Jean Paul Vonsattel, MD
Institution: New York Brain Bank, Columbia University Irving Medical Center, NY
Project Title: (2020) Human tissue banking for the Huntington’s disease research community 

Ben Hoffstrom, PhD with Ai Yamamoto, PhD, Columbia University
Institution: Fred Hutchinson Cancer Research Center, Seattle, WA
Project Title: (2017) Creating a monoclonal antibody against Alfy
2020 Leslie Gehry Prize for Innovation in Science (Yamamoto)

Ali Khoshnan, PhD
Institution: California Institute of Technology, Pasadena
Project Title: (2019) Editing of gut bacteria to reduce brain pathology in Huntington’s disease
Project Title: (2020) Developing gut-based therapies for HD 

Hyeseung Lee, PhD
Mentor: Myriam Heiman, PhD
Institution: Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge
Project Title: (2021) Therapeutic targeting of Huntington’s disease with key regulators of innate immunity

David Leib, PhD with Beverly Davidson, PhD
Institution: Children's Hospital of Philadelphia, University of Pennsylvania
Project Title: (2021) New gene therapy delivery approaches for Huntington’s disease
2015 Leslie Gehry Prize for Innovation in Science (Davidson) 

Pan Li, PhD
Mentor: Russell Margolis, PhD
Institution: Johns Hopkins University, Baltimore, MD
Project Title: (2017) A high throughput screen for small molecules enhancing the expression of HTTAS-a novel therapeutic strategy for HD

Xueyi Li, PhD
Institution: Massachusetts General Hospital, Harvard Medical School, Boston, MA
Project Title: (2021) Mechanism of white matter loss in Huntington’s disease

Ryan Lim, PhD
Institution: University of California, Irvine
Project Title: (2020) Interactions between metabolism, gene expression, and gender in Huntington’s disease

Boxun Lu
Institution: Fudan University, Shanghai, China
Project Title: (2017) Validation of a Gpr52 antagonist’s effect on mHTT levels and toxicity

James Mackay, PhD
Mentor: Lynn A. Raymond, MD, PhD, FRCPC
Institution: University of British Columbia, Vancouver, Canada
Project Title: (2021) Assessing early changes in sensory-related brain activity in Huntington’s disease

Srivathsa Magadi, PhD
Mentor: Walker Jackson, PhD
Institution: Linkoping University, Sweden
Project Title: (2022) Modulate immune cells of the brain to alleviate Huntington’s disease

Roy Maimon, PhD
Mentor: Don W. Cleveland, PhD
Institution: University of California, San Diego
Project Title: (2020) Therapy development for Huntington’s disease using in vivo conversion of astrocytes into striatal neurons 

Alejandro Mas-Monteys, PhD
Institution: Children's Hospital of Philadelphia, University of Pennsylvania
Project Title: (2018) Novel approaches for knock down control

Zachariah L. McLean, PhD
Mentor: James F. Gusella, PhD
Institution: Massachusetts General Hospital, Harvard Medical School, Boston, MA
Project Title: (2021) Identifying modifiers of Huntington’s disease CAG repeat expansion and its consequent disruption of messenger RNA

Jenny Morton, PhD, SCD, FRSB
Institution: University of Cambridge, United Kingdom
Project Title: (2020) Can core body temperature be used as a readout for changes in metabolism in Huntington’s disease?

Jose F. Moruno-Manchon, PhD
Mentor: Andrey S. Tsvetkov, PhD
Institution: The University of Texas McGovern Medical School, Houston
Project Title: (2017) Sphingosine kinase 2 and DNA damage in neurons – A lipid kinase, DNA damage and Huntington’s disease

Christian Neri, PhD
Institution: INSERM, Paris, France
Project Title: (2017) Modeling the role of extracellular vesicles in HD pathogenesis

Christopher Ng, PhD
Mentor: David Housman, PhD
Institution: Massachusetts Institute of Technology, Cambridge
Project Title: (2017) Characterization of genetic variants that modify age of onset in Huntington's disease

Daniel O'Reilly, PhD
Mentor: Anastasia Khvorova, PhD
Institution: University of Massachusetts Chan Medical School, Worcester, MA
Project Title: (2020) Understanding the role of aggregates in Huntington's disease

Izabella A. Pena, PhD
Mentor: Myriam Heiman, PhD
Institution: Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge
Project Title: (2021) Using metabolism to measure defects in cellular self-cleaning in Huntington’s disease
Project Title: (2022) Investigating mitochondrial defects in the most vulnerable neurons in Huntington’s disease 

Ellen Penney, MD, PhD
Institution: Massachusetts General Hospital, Harvard Medical School, Boston, MA
Project Title: (2018) R-loops in HD: Somatic Expansion and DNA Repair

Ashutosh Phadte, PhD
Mentor: Anna Pluciennik, PhD
Institution: Thomas Jefferson University, Philadelphia, PA
Project Title: (2021) Oxidative damage and CAG expansions in Huntington's disease

Anna Pluciennik, PhD
Institution: Thomas Jefferson University, Philadelphia, PA
Project Title: (2018) Crosstalk between DNA repair pathways in Huntington's disease

Paul Ranum, PhD
Mentor: Beverly Davidson, PhD
Institution: Children's Hospital of Philadelphia, University of Pennsylvania
Project Title: (2019) High throughput quantification of gene expression and mRNA structure from single-cells in the HD brain

Piere Rodriguez-Aliaga, PhD
Mentor: Judith Frydman, PhD
Institution: Stanford University, Palo Alto, CA
Project Title: (2018) Dissection of the functional and structural communication within the Huntingtin protein and its interaction with the human TRiC chaperonin
Project Title: (2019) Structural differences between the pathogenic and non-pathogenic Huntingtin: a single- molecule approach
Project Title: (2021) How disease-causing mutations in the Huntingtin protein render it toxic

Jennie C. L. Roy, PhD
Mentor: Ricardo Mouro Pinto, PhD
Institution: Massachusetts General Hospital, Harvard Medical School, Boston, MA
Project Title: (2020) Testing of novel drugs targeting CAG repeat expansions as candidate therapeutics for Huntington's disease 

Ghazaleh  Sadri-Vakili, PhD
Institution: Massachusetts General Hospital, Harvard Medical School, Boston, MA
Project Title: (2017) Alterations in Hippo/YAP signaling as a pathogenic mechanism in Huntington's disease

Partha Sarkar, PhD
Institution: University of Texas Medical Branch at Galveston
Project Title: (2021) Mechanism of mitochondrial dysfunction in Huntington’s disease

Matthew Scaglione, PhD
Institution: Medical College of Wisconsin and Duke University School of Medicine
Project Title: (2018) Analysis of a novel class of molecular chaperones that suppress polyglutamine aggregation

Chiara Scaramuzzino, PhD
Institution: Grenoble Institut des Neurosciences-INSERM, France
Project Title: (2021) Impact of mutant huntingtin on retrograde axonal routing of survival signals  

Sridhar Selvaraj, PhD
Mentor: Matthew Porteus, MD, PhD
Institution: Stanford University, Palo Alto, CA
Project Title: (2022) Development of a stem-cell based therapy for Huntington’s disease

Anne Simonsen, PhD
Institution: University of Oslo, Norway
Project Title: (2017) Alfy at the Battlefront against Huntingtons Disease

Charlene Smith-Geater, PhD
Mentor: Leslie M. Thompson, PhD
Institution: University of California, Irvine
Project Title: (2017) PIAS1 network in HD induced pluripotent stem cells – Dressing Huntington: The mistake in the protein that causes Huntington’s disease can be very subtle!

Sophie St-Cyr, PhD
Mentor: Beverly L. Davidson, PhD
Institution: Children's Hospital of Philadelphia, University of Pennsylvania
Project Title: (2021) Understanding the underlying mechanism of the heart pathology in Huntington’s disease

Joan Steffan, PhD
Institution: University of California, Irvine
Project Title: (2017) Analysis of an ubiquitin-binding domain within Huntingtin – Analysis of how the Huntingtin protein helps clean up cellular trash

Andrew F. Teich, MD, PhD
Institution: New York Brain Bank, Columbia University Irving Medical Center, NY
Project Title: (2022) Human tissue banking for the Huntington’s disease research community

Leslie Thompson, PhD with Steve Finkbeiner, MD, PhD
Institution: University of California, Irvine
Project Title: (2017) Assessment of WGS-derived genetic modifiers in differentiated HD-derived iPSCs
2013 Leslie Gehry Prize for Innovation in Science (Thompson)
2022 Leslie Gehry Prize for Innovation in Science (Finkbeiner)

Nicholas Todd, PhD
Institution: Brigham and Women’s Hospital, Harvard Medical School, Boston, MA
Project Title: (2019) Targeted Delivery of HD Gene Therapeutics
Project Title: (2020) Improving delivery of Huntington’s disease therapies to the brain Project Title: (2021) Delivery of Huntington’s disease gene therapeutics to the brain

Ray Truant, PhD
Institution: McMaster University, Hamilton, Ontario, Canada
Project Title: (2019) DNA Damage Repair Links to Energy Metabolism Defects in HD: Defining New Therapeutic Targets
Project Title: (2022) Imaging huntingtin at DNA sites at the atomic level

Jean Paul Vonsattel, MD with Richard A. Hickman, MD
Institution: New York Brain Bank, Columbia University Irving Medical Center, NY
Project Title: (2020) Human tissue banking for the Huntington’s disease research community

Mary Wertz, PhD
Mentor: Myriam Heiman, PhD
Institution: Broad Institute of Massachusetts Institute of Technology and Harvard University
Project Title: (2017) In vivo genome-wide genetic screening for modifiers of mutant Huntingtin toxicity

Chao Wu, PhD
Mentor: Guo-Min Li, PhD
Institution: University of Texas Southwestern Medical Center, Dallas
Project Title: (2020) Mutant huntingtin promotes CAG repeat expansion

Gong-Her Wu, PhD
Mentor: Wah Chiu, PhD
Institution: Stanford University, Palo Alto, CA
Project Title: (2019) Deciphering mutated huntingtin aggregates and cellular architecture in Huntington’s disease neuron by cryogenic electron microscopy
Project Title: (2021) Using cryogenic electron microscopy to visualize protein aggregates and subcellular component structures in Huntington’s disease neurons

Ai Yamamoto, PhD
Institution: Columbia University Medical Center, NY
Project Title: (2017) ALFY-mediated Degradation and HD
Project Title: (2020) Determining how the protein Alfy may improve Huntington's disease-like symptoms
2020 Leslie Gehry Prize for Innovation in Science

William Yang, MD, PhD
Institution: David Geffen School of Medicine at UCLA j
Project Title: (2017) Novel Fan1 Knockin Mice to Facilitate Huntington's Disease Genetic Modifier Research
Project Title: (2019) Novel FAN1 Knock-in Mice to Study the Role of FAN1 in Normal Brain Function and HD Pathogenesis
2014 Leslie Gehry Prize for Innovation in Science

Andrew Yoo, PhD
Institution: Washington University School of Medicine, St. Louis, MO
Project Title: (2017) Modeling Huntington's Disease with Patient Neurons Generated by Direct Neuronal Reprogramming
Project Title: (2018) Testing the Role of Genetic Modifiers of Huntington's Disease with Directly Reprogrammed Patient Neurons
Project Title: (2021) Increasing resilience against neurodegeneration in Huntington’s disease patient-derived neurons 

Michael Zody, PhD
Institution: New York Genome Center, NY
Project Title: (2020) New York Genome Center Huntington’s Disease Brain Genotyping Project

Listing of Previously Funded Research Projects since 2017 (as of August 2023). Institution and Project Title as of the funding year.

Detailed descriptions for currently funded research projects.

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