Patient-Partnered Collaborations for Rare Neurodegenerative Disease RFA Grantees

CZI invited applications from collaborative teams bringing together patient-led rare disease organizations and research teams for four-year research projects aimed at advancing our understanding of the fundamental biology underlying rare diseases. The Patient-Partnered Collaborations for Rare Neurodegenerative Disease RFA aims to advance the understanding of the pathophysiology and mechanistic underpinnings of rare neurodegenerative and neurological disorders. Patients are centered in this work. Each team is led by a Coordinating Primary Investigator (PI) and Patient Organization PI. Read about the grantees below.

PCH2cure: Revealing Disease Mechanisms to Cure PCH2

to reveal mechanisms of neurodegeneration in PCH2 through analysis of patient pathophysiology, biosamples and patient-derived cell models

Coordinating PI: Simone Mayer

University of Tuebingen

Patient Organization PI: Julia Matilainen

PCH-Familie e.V

Samuel Gröschel

University of Tuebingen

Wibke Janzarik

University of Freiburg

Closing the Knowledge Gaps in Lafora, a Fatal Neurodegenerative Disease

to further research the molecular basis of Lafora disease and thus open the path to therapy by studying and uncovering the basic mechanisms of the disease

Coordinating PI: Berge Minassian

University of Texas-Southwestern

Patient Organization PI: Lena Ismail

Chelsea’s Hope

Maria Chahrour

University of Texas-Southwestern

Sharmistha Mitra

University of Texas-Southwestern

Felix Nitschke

University of Texas-Southwestern

CADASIL-centered Modeling of Immunovascular Neurodegenerative Disease

to reverse engineer CADASIL to discover therapeutic molecular targets using stem cell technologies in a deeply phenotyped cohort of patients

Coordinating PI: Fanny Elahi

Icahn School of Medicine at Mount Sinai

Patient Organization PI: Jane Gunther


Joel Blanchard

Icahn School of Medicine at Mount Sinai

Towfique Raj

Icahn School of Medicine at Mount Sinai

Shrike Zhang

Brigham Women's Hospital / Harvard Medical School

A Cell Atlas of Batten Pathobiology & Therapeutic Response

to generate a single-cell reference atlas of Batten disease pathobiology and therapeutic response from nonhuman models, patient iPSC neurons, and human autopsy specimens

Coordinating PI: Timothy Yu

Boston Children’s Hospital

Patient Organization PI: Julia Vitarello

Mila’s Miracle Foundation

Joseph Mazzulli

Northwestern University

Larry Sherman

Oregon Health & Science University

Investigating ATP1A3 Diseases in Cell and Animal Models

to determine how ATP1A3 mutation dominance causes Alternating Hemiplegia of Childhood by correcting the mutated gene and studying the effects on cell and mouse models

Coordinating PI: David Liu

The Broad Institute of MIT and Harvard

Patient Organization PI: Simon Frost

Hope for Annabel

Cathleen Lutz

Jackson Laboratory, Rare Disease Translational Center

Kathleen Sweadner

Massachusetts General Hospital / Harvard Medical School

Kathryn Swoboda

Massachusetts General Hospital / Harvard Medical School