CONSORTIUM

Uniting world class Salla research

Our Consortium

Trusted and endorsed by world-class researchers

The FSASD Consortium comprises approximately 40 researchers from leading institutions around the world dedicated to bringing new therapies to patients with free sialic acid disorders

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 behind our initiative

Emeritus Professor

Francine Acher, PhD

Molecular modelling of small molecules for receptors and transporters

Scientist

Christine Anne-Longin, PhD

Small molecule research on transporters including SLC17A5

Scientist

Chloe Christensen, PhD

Genome editing-based therapeutics for rare genetic pediatric disorders

Associate Professor

Kostantin Dobrenis, PhD

Pathogenesis & therapy of neurodegenerative diseases; ganglioside and microglial biology

Director of Functional Studies

Heather Flanagan-Steet, PhD

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

Senior Research Scientist, CNRS

Bruno Gasnier, PhD

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

Staff Scientist

Jerry Harb, MS

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

Postdoctoral Fellow

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

Shih-hsin Kan, PhD

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

Assistant Professor

Monkol Lek, PhD

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

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

Frances Platt, PhD

Cell and pathobiology and treating diseases gycolipid metabolism and lysosomal dysfunction

Director, Biochemical Genetics Laboratory

Laura Pollard, PhD, FACMG

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

Associate Professor of Neurology

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

NIH Oxford-Cambridge Scholar

Marya Sabir, BS

Pioneering research in FSASD research and winner of 2023 Translational Award

Director, Staff Scientist

Audrey Thurm, PhD

Cognitive assessment instrumentation in longitudinal studies of neurodevelopmental disorders

Nurse Practitioner

Lynne Wolfe, MS

Congenital disorders of glycosylation, mitochondrial disease/dysfunction, treatment of rare diseases

Associate Investigator

May Christine Malicdan, MD

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

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, Children's Hospital Orange County

Raymond Wang, MD

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

Professor

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

Hongjin Zheng, PhD

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

Associate Professor

Roberto Zoncu, PhD

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