CONSORTIUM

Free Sialic Acid Storage Disordes (FSASD) Consortium

Our Consortium

World-class researchers united together

The FSASD Consortium brings together approximately 50 researchers from leading institutions around the world dedicated to discovering and bringing therapies to the community of patients living with Free Sialic Acid Storage Disorders, including Salla Disease.

Join them

How it works

Driving towards the first therapeutics for Salla Disease

The FSASD Consortium represents an innovative framework for harnessing scientific momentum globally around a rare disease that would otherwise remain neglected. Working under a blanked confidentiality agreement, the FSASD Consortium allows researchers to freely share latest developments in real time.

This enables close collaboration between researchers with different areas of expertise, all with the express aim of driving forward FSASD scientific research and translational medicine.

A graphic explaining the structure of the FSASD consortium.

CONSORTIUM MEMBERS

The dream team driving FSASD research

Emeritus Professor, CNRS (Paris)

Francine Acher, PhD

Molecular modelling of small molecules for receptors and transporters

Scientist, CNRS (Paris)

Christine Anne-Longin, PhD

Small molecule research on transporters including SLC17A5

Scientist, Rady Children’s Health

Chloe Christensen, PhD

Implementing gene editing-based therapeutics for lysosomal storage disorders

Associate Professor, Einstein College of Medicine

Kostantin Dobrenis, PhD

Pathogenesis & therapy of neurodegenerative diseases; ganglioside and microglial biology

Associate Director, Research, Greenwood Genetics

Heather Flanagan-Steet, PhD

Defining the molecular and cellular mechanisms underlying the pathogenesis of rare genetic diseases

Chair, Department of Neuroscience

John Foxe, PhD

Translational Researcher, research director/ Cognitive Neurophysiology Lab

Research Director, CNRS (Paris)

Bruno Gasnier, PhD

Prototyping small molecules that rescue the trafficking defect for common Salla mutation

Scientist, Rady Children’s Health

Jerry Harb, MS

CRISPR-Cas9 genome engineering to edit pathogenic variants in rare pediatric disease

Postdoctoral fellow, UC Berkeley

Aakriti Jain, PhD

Post doctoral researcher in Roberto Zoncu's Laboatory

Project Manager, STAR Foundation

Agnes C Jensen, MPH

Project manager and research study coordinator for FSASD patients and community

Postdoctoral Fellow

Vukasin Jovanovic, PhD

Neuronal differentiation of hPSC's: understanding and treatment of neurodegenerative disease

Scientist, Rady Children’s Health

Shih-hsin Kan, PhD

Translational studies on developing treatments for varies lysosomal storage disorders (LSD)

Associate Professor, Yale University

Monkol Lek, PhD

Genetic mechanism of rare diseases that may lead to rational approaches for therapies

Associate Investigator

May Christine Malicdan, MD

Translational research projects that aim to improve the diagnosis and therapies for human diseases

Co-Founder & CEO

Jonathan Montagu, MChem

Developing allosteric medicines that mimick nature's control of proteins

Chief Medical Officer

Daniel Ory, MD

Cholesterol homeostasis and its role in CV disorders and Niemann-Pick Type C (NPC) disease

Clinical Neuropsychologist

Liisa Paavola, MD, PhD

Specialist Psychologist in Neuropsychology, & Psychotherapist

Professor of Neurology

Marc Patterson, MD

Rare diseases in children including NPC and other lysosomal disorders

Professor of Biochemistry and Pharmacology, University of Oxford

Frances Platt, PhD

Expertise in the pathophysiology of glycosphingolipid lysosomal disorders and their treatment

Director, Biochemical Genetics Laboratory, Greenwood Genetics

Laura Pollard, PhD, FACMG

Diagnosis and monitoring of patients with a wide variety of lysosomal storage disorders

Professor, Stanford University

Richard Reimer, MD

Lysosomal storage disorders that affect the nervous system with focus on Gaucher and Fabry disease

Scientist

Allisandra Rha, PhD

Genome editing in GM1 gangliosidosis (GM1) and other rare genetic lysosomal storage diseases

Graduate student, University of Oxford

Marya Sabir, DPhil

Investigating cellular and molecular drivers of FSASD to advance diagnostics and targeted therapies

Neuroscience Graduate Student

Alexander Solorzano

Advancing preclinical MRI phenotyping using fMRI, DTI, and MRS in lysosomal disorder models

Faculty

Audrey Thurm, PhD

Cognitive assessment instrumentation in longitudinal studies of neurodevelopmental disorders

Acting Director, Stem Cell Translation Laboratory

Carlos Tristan, PhD

Accelerate application of hPSC's in disease modeling, regenerative therapy and drug discovery

Professor Emeritus

Steven Walkley, DVM, PhD

Neurogenetic disease particularly disorders impacting neuronal homeostatic mechanisms

Director

Raymond Wang, MD

Translational research for next generation treatments and cures for lysosomal storage disorders

Professor, Einstein College of Medicine

Melissa Wasserstein, MD

Newborn screening, genetic diagnostics in diverse populations, acid sphingomyelinase deficiency

Graduate Student

Serim Yang

Graduate Student in Roberto Zoncu's Laboratory

Associate Professor, UAB

Hongjin Zheng, PhD

Understanding how membrane bound proteins function through use of Cryo-EM and X-ray crystallography

Professor, UC Berkeley

Roberto Zoncu, PhD

How nutrients we consume regulate our growth and homeostasis with focus on the lysosome