Dr. Auray-Blais is the Director of the Quebec Provincial Mass Urinary Screening Program for hereditary metabolic disorders since its inception more than 35 years ago.
We recently had the [...]

Laura Baroncelli, PhD, has been a Researcher at the Neuroscience Institute of the Italian National Research Council (CNR) in Pisa since 2011. She received her PhD in Neurobiology at the Scuola [...]

An interview with Professor Arndt Rolfs, a Professor for Neurology and Psychiatry at the University of Rostock, Germany, head of the Albrecht-Kossel-Institute at the University of Rostock and [...]

We had another exciting day at SSIEM in Rome where we attended a number of lectures and heard about innovative new technologies and biomarkers in the rare disease space. We have highlighted a [...]

An Interview with Professor Ari Zimran, M.D, Head of the Gaucher Clinic at the Shaare Zedek Medical Centre in Jerusalem.
Ahead of SSIEM 2016, we had the pleasure of interviewing Professor [...]

SSIEM Day 1, including lecture highlights from Prof Eva Morava & Dr Piero Rinaldo
Opening ceremony:
SSIEM 2016 opened with a rousing performance from a brass band to open our [...]

Our involvement at SSIEM
This week we are at the SSIEM congress in Rome to highlight the latest information on lysosomal storage diseases (LSDs). Events like the SSIEM (Society [...]

Today, May 16, 2016, is hae day :-), a Global initiative from international patient group HAEi to raise awareness of hereditary angioedema (HAE) among the general public and medical community. [...]

Meet Gina, a 56-year old mother to E (Fabry patient), based in Ontario, Canada. After five years of jumping through hurdles she finally received a diagnosis of Fabry disease for her then [...]

As a child, did you ever make paper planes and play with your friends outside? Well, here’s your chance to bring back your childhood memories while spreading awareness about [...]