Programme

Programme*

*HCU Network Australia reserves the right to alter the programme without prior notice. Please note speakers and the programme are subject to change.  In the event of a speaker cancellation, all efforts will be made to find a suitable replacement.

Day 1: Thursday 28th February

8.00 Registration open

SESSION 1: State of the art lectures

Chair: Ida SCHWARTZ
Opening address: Dr. Carlo Dionisi Vici and Tara Morrison
Metabolism
8.30 – 8.50 Sulfur Amino Acids Viktor KOZICH
8.50 – 9.10 Folate and B12 Henk BLOM
Presentations
9.10 – 9.30 CBS deficiency: Overview Sufin YAP
9.30 – 9.40 CBS deficiency: A parents’ perspective Tara MORRISON
9.40 – 10.00 CblC and MTHFR: Overview Carlo DIONISI-VICI
10.00 – 10.10 CblC: an adults’ perspective Francesca RESTUCCIA

COFFEE BREAK


SESSION 2: Novel Developments in Remethylation Defects

Chair: Henk BLOM
10.30 – 10.50 A transgenerational MMACHC epimutation illustrates a new mechanism of inborn errors of metabolism named epi-cblC Jean-Louise GUEANT
10.50 – 11.10 Structural basis of severe 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency Matthias BAUMGARTNER

SESSION 3: Newborn screening

Chair: Alberto BURLINA
11.10 – 11.40 EHOD Recommendations on newborn screening for homocystinurias versus current practices Martina HUEMER
11.40 – 12.00 Technical aspects of NBS in Homocystinurias Giancarlo LA MARCA
12.00 – 12.20 Clinical management of a positive NBS for Homocystinurias Alberto BURLINA
12.20 – 12.50 The outcomes in classical homocystinuria patients detected by newborn screening Tawfeg BEN-OMRAN
12.50 – 13.10 Q & A session 2 & 3: disease causing mechanisms and newborn screening Session Speakers

LUNCH


SESSION 4: Interactive Panel

Chair: Kimberly CHAPMAN
14.00 – 14.45 CBS deficiency Viktor KOZICH, Tawfeg BEN-OMRAN, Sufin YAP
14.45 – 15.30 Remethylation disorders Martina HUEMER, Carlo DIONISI-VICI, Matthias BAUMGARTNER, Irini MANOLI

COFFEE BREAK


SESSION 5: New Developments

Chair: Viktor KOZICH
15.50 – 16.10 Microbiome in CBS deficiency Ida SCHWARTZ
16.10 – 16.30 Arg to Cys mutation in CBS deficiency Henk BLOM
16.30 – 16.45 Closing comments: Day 1 Henk BLOM & Ida SCHWARTZ

NETWORKING CANAPES & DRINKS

Day 2: Friday 1st March

8.00 Registration open

SESSION 6: Long term outcomes

Chair: Carlo DIONISI-VICI
8.30 – 9.00 E-HOD Registry results: Remethylation disorders Martina HUEMER
E-HOD Registry results: CBS deficiency Viktor KOZICH
9.00 – 9.20 The Irish Experience Greg PASTORES
9.20 – 9.40 Observational study of the natural history of patients with classical homocystinuria on current therapy Marcia SELLOS-MOURA

SESSION 7: Recent advances in novel treatments

Chair: TBA
9.40 – 10.00 Enzyme replacement therapy for classical homocystinuria Tomas MAJTAN
10.00 – 10.20 Impact of EPI743 on visual function in CblC defect Diego MARTINELLI
10.20 – 10.40 Progress in CblC treatment Irini MANOLI
10.40 – 10.50 Treatment of cobalamin metabolic disorders with oh-cobalamin through an “in situ” subcutaneous permanent catheter: reaching the goal Andrea BORDUGO
10.50 – 11.00 Long term outcomes and novel treatments: Q & A Session Speakers

COFFEE BREAK


SESSION 8: Living with homocystinuria

Chair: Ida SCHWARTZ
11.20 – 12.00 Dietary practices in pyridoxine non-responsive homocystinuria and the impact of E-HOD guidelines Marjorie DIXON & Alexandra JUNG
12.00 – 12.15 RMD calculator & platform- tools supporting HCU diet calculation and communication between HCP & patients Iwona BARTLOMIEJCZYK
12.15 – 12.25 Classical Homocystinuria in Qatar: Nutritional advances and challenges Reem AL-SAADI
12.25 – 12.40 The challenges of parenting a child with phenylketonuria (PKU): Parents’ lived experiences Anja WITTKOWSKI
12.40 – 12.45 Growing up with classical homocystinuria: a child’s perspective Owen AUSTIN
12.45 – 1.00 Living with homocystinuria: Q & A Session Speakers

LUNCH


SESSION 9: Patient Organisations

Chair: Tara MORRISON
14.00 – 14.20 Global Research Map and Grants Process for HCU Margie MCGLYNN
14.20 – 14.40 Homocystinuria Patient and Caregiver Survey: Experiences of Diagnosis and Patient Satisfaction Tara MORRISON
14.40 –15.00 CblC onlus, from the beginning until now Rossella BRINDISI
15.00 – 15.20 cblC Brazil – News and Progress Luana BRITO
15.20 – 15.30 Closing comments: Day 2 Henk BLOM & Ida SCHWARTZ
Acknowledgements Carlo DIONISI-VICI & Tara MORRISON

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