Meeting Overview

Patient-Expert Meeting 2019

The Patient-Expert Meeting was held in NH Roma Centro, Rome on 28 FEBRUARY to 1 MARCH 2019. It was the third international educational event held specifically for patients with homocystinuria and associated disorders and their families. The main goal of the meeting was to enhance the exchange of information and ultimately promote improved health outcomes for patients affected by these disorders. A secondary aim of the meeting was to help lay the foundation for further national patients groups and a global homocystinuria ‘umbrella’ patient group.

The Patient-Expert Meeting was a collaborative venture organised by HCU Network Australia and the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), and sponsored by the Recordati Rare Disease (RRD) Foundation.

The meeting brought together leaders in the field of homocystinuria research, clinical care, nutrition and advocacy for a two-day conference. The meeting was held in conjunction with Rare Disease Day 2019 on 28th February.

On behalf of the organising committee, for the 3rd International Homocystinurias Patient-Expert Meeting I would like to thank all speakers, sponsors and attendees. We are pleased to provide below the presentations from the meeting for anyone unable to attend.

Kind regards,
Tara Morrison, HCU Network Australia Director and Chair

Resources

 

HCU Programme Booklet
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Day 1: Thursday 28th February

SESSION 1: State of the art lectures

Viktor KOZICH
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Carlo DIONISI-VICI
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Francesca RESTUCCIA
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SESSION 2: Novel Developments in Remethylation Defects

Jean-Louise GUEANT
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Matthias BAUMGARTNER
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SESSION 3: Newborn screening

Martina HUEMER
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Giancarlo LA MARCA
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Day 2: Friday 1st March

SESSION 6: Long term outcomes

Martina HUEMER
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Greg PASTORES
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SESSION 7: Recent advances in novel treatments

Irini MANOLI
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Andrea BORDUGO
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SESSION 8: Living with homocystinuria

Iwona BARTLOMIEJCZYK
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Reem AL-SAADI
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Anja WITTKOWSKI
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SESSION 9: Patient Organisations

Margie MCGLYNN
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Tara MORRISON
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Rossella BRINDISI
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Luana BRITO
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