Families come together for rare disease family day

Posted: 13th June 2019

We recently hosted our second Fanconi Anaemia (FA) Family Day, organised by Dr Wayne Crismani from our Genome Stability Unit. 

Wayne started organising these events as there were almost no opportunities for people with FA/their families in the southern hemisphere to meet each other, share their stories and hear from scientists about current FA research.

Fanconi anaemia is a rare genetic condition that typically leads to loss of normal blood production (including aplastic anemia and acute myeloid leukemia) often in early childhood. Loss of normal blood production requires a life-saving bone marrow transplant, however, people with FA are left with an ongoing increased predisposition to cancer many hundreds of times higher than the general population.

At the centre of these events are the families from New Zealand and Australia who make the effort to come together for this meeting and talk to us about how we can better partner together to connect patients to appropriate medical expertise and support, and inform our research programs. Thank you to all families for their enthusiasm and generosity in sharing their stories.

Thanks also to our fantastic speakers on the day, who shared their unique insights and expertise through presentations, ‘fireside chats’ and Q and A sessions:

·      Dr Lucy Fox, Clinical Haematologist, Peter MacCallum Cancer Centre

·      Associate Professor Andrew Deans, Head, SVI Genome Stability Unit 

·      Amelia Hawkshaw, who spoke of her experience with FA

·      Dr Chris Fraser, Oncologist, Queensland Children's Hospital

·      Sophie Goyder, Telehealth Nurse, funded by Maddie Riewoldt’s Vision

·      Lisette Curnow, Genetic Counsellor with the Victorian Clinical Genetics Services (VCGS) and Royal Children’s Hospital

·      Associate Professor Joanne Ngeow, Oncologist with the National Cancer Centre Singapore

·      Chris & Barbara Hawkshaw, who spoke on the establishment of an FA Support Group in Australasia.

And of course, Dr Wayne Crismani, SVI Genome Stability Unit, and team researchers Dr Michael Sharp, Dr Astrid Glaser, Research Officer Sylvie van Twest  and PhD student Winnie Tan.

Guests and speakers had the opportunity to participate in lab tours hosted by Professor Natalie Sims, Deputy Director and Head of SVI’s Bone Cell Biology & Disease Unit and Associate Professor Andrew Deans.

Maddie Riewoldt’s Vision is our major partner and funder for research into bone marrow failure syndromes and is supporting research into the development of urgently needed treatments for Fanconi anaemia and other related conditions. Other supporters included Melbourne Museum, BMG Labtech and Perkin Elmer.

For more information please see: Genome stability