• Overview
    • Overview of Fabry disease
    • Epidemiology
    • Genetic Cause
    • X-linked Inheritance
  • Symptoms
    • General symptoms
    • Cardiac
    • Renal
    • Neurological
  • Diagnosis
    • Diagnostic Kits
    • Screening Populations
    • Fabry disease symptoms checklist
    • Establishing a diagnosis
    • Confirming a diagnosis
    • Importance of early diagnosis
    • Misdiagnosis
  • Management
    • Pedigree
    • Genetic counselling
    • Specific treatment
    • Symptomatic treatment
  • Information for patients
    • Useful brochures to understand Fabry disease
    • Useful links
  • FAQs
  • Diagnostic kits Form
  • Overview
    • Overview of Fabry disease
    • Epidemiology
    • Genetic Cause
    • X-linked Inheritance
  • Symptoms
    • General symptoms
    • Cardiac
    • Renal
    • Neurological
  • Diagnosis
    • Diagnostic Kits
    • Screening Populations
    • Fabry disease symptoms checklist
    • Establishing a diagnosis
    • Confirming a diagnosis
    • Importance of early diagnosis
    • Misdiagnosis
  • Management
    • Pedigree
    • Genetic counselling
    • Specific treatment
    • Symptomatic treatment
  • Information for patients
    • Useful brochures to understand Fabry disease
    • Useful links
  • FAQs
  • Diagnostic kits Form
Home » Fabry Disease
 Dr. Auray-Blais is the Director of the Quebec Provincial Mass Urinary Screening Program
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By Rare2Aware
In Congresses, Fabry Disease, Hunter Syndrome
Posted September 9, 2016

Dr. Auray-Blais is the Director of the Quebec Provincial Mass Urinary Screening Program

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 [...]

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 Dr. Laura Baroncelli, PhD, Italian National Research Council (CNR) discusses the CCDS1 research she presented at SSIEM.
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2
By Rare2Aware
In Congresses, Fabry Disease
Posted September 9, 2016

Dr. Laura Baroncelli, PhD, Italian National Research Council (CNR) discusses the CCDS1 research she presented at SSIEM.

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 [...]

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 Professor Arndt Rolfs, M.D, discusses the importance of biomarkers in early diagnosis and monitoring
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0
By Rare2Aware
In Congresses, Fabry Disease
Posted September 8, 2016

Professor Arndt Rolfs, M.D, discusses the importance of biomarkers in early diagnosis and monitoring

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 [...]

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 SSIEM 2016 Day 2 summaries of Dr Simmons, Dr Lee, Dr Emma and Dr Auray-Blais
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0
By Rare2Aware
In Congresses, Fabry Disease, Hunter Syndrome
Posted September 8, 2016

SSIEM 2016 Day 2 summaries of Dr Simmons, Dr Lee, Dr Emma and Dr Auray-Blais

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 [...]

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1
By Rare2Aware
In Advocacy & Awareness, Congresses, Fabry Disease, Gaucher Disease
Posted September 8, 2016

Professor Ari Zimran discusses the importance of early diagnosis in Gaucher disease.

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 [...]

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0
By Rare2Aware
In Congresses, Fabry Disease
Posted September 7, 2016

SSIEM 2016, Day 1: Opening ceremony with Prof Morava and Dr Rinaldo

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 [...]

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0
By Rare2Aware
In Advocacy & Awareness, Community, Congresses, Fabry Disease
Posted September 6, 2016

SHIRE Joins the Rare Disease Community at SSIEM

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 [...]

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 Understanding HAE this hae day :-)
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5
By Rare2Aware
In Advocacy & Awareness, Community, Fabry Disease, hae day :-), HAE Global Conference, HAE survey, HAEi, Hereditary Angioedema
Posted May 16, 2016

Understanding HAE this hae day :-)

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. [...]

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 Gina’s Story: The long walk to a diagnosis
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0
By Rare2Aware
In Advocacy & Awareness, Angiokeratomas, Changes in the eye, Community, Fabry Disease, Hearing problems, Impaired ability to sweat, Patient Stories, Pedigree Analysis, Stomach problems
Posted May 3, 2016

Gina’s Story: The long walk to a diagnosis

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 [...]

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 Help us #FlyforMPS this International MPS Awareness Day
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0
By Rare2Aware
In Advocacy & Awareness, Community, Fabry Disease, Hunter Syndrome
Posted May 1, 2016

Help us #FlyforMPS this International MPS Awareness Day

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 [...]

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