Families, researchers, and clinicians came together for Children Medical Research Institute’s (CMRI) first ever Rare Disease Family Day to talk about the progress of gene therapy programs at CMRI and in Australia.

There were scientists from CMRI who are researching the latest in gene therapy technologies, clinicians from the Sydney Children’s Hospital Network (SCHN) who run clinical trials for gene therapy, and families from across Australia whose children are living with rare and ultra-rare genetic conditions.

A special guest of the event was Slovenia mother Spela Mirosevic who, together with her husband Samo, started the Slovenian CTNNB1 Foundation after her son Urban was diagnosed with this rare condition. Many children with this condition cannot walk or talk.

“In the ideal world, you would go to the doctor, the doctor would give you the diagnosis and then he would give the treatment,’’ Dr Mirosevic said. “Unfortunately, we do not live in that ideal world...at least not yet. However, we live in a time where there is hope with gene therapy.”

“We all have seen the miracles that happened after children with Spinal Muscular Atrophy were given gene therapy. Children who could not even hold their heads learned to walk and talk for the first time in their lives. Hope is something we all need.’’

Dr Mirosevic reached out to CMRI based on recommendations from families and rare disease experts, and has been working for the last three years with Associate Professor Leszek Lisowski, leader of CMRI’s Translational Vectorology Research Unit, on a novel experimental gene therapy for CTNNB1.

“There are over 7,000 known genetic disorders, which combined affect estimated 5-10% of new-borns. This is a very scary statistic, but unfortunately, it is a devastating reality faced by millions of families in Australia and around the world. I am very excited that gene therapy technology has reached a level of maturity which allows us now to develop treatments, or even cures, for many of those disorders,” said Associate Professor Lisowski. ”I am also very happy, as this project paves the way for many similar projects we are working on and will work in the future. Me and my very dedicated research team will not stop until all children have a fair chance at a normal life.”

Clinician-scientist, Professor Ian Alexander, is head of CMRI and SCHN’s Gene Therapy Research Unit and said that parents of children with genetic disease were “the most inspirational people he has met in his life” and spoke about how exciting the field had become.

“I’ve spent over 30 years of my life dreaming of what gene therapy could do and only recently has it become a reality. Diagnostic power has increased, but the therapies on offer are not keeping up, and it's incredibly frustrating, so we need to close that gap.’’

Adjunct Associate Professor Paula Bray who is Director of Research at Sydney Children’s Hospitals Network agreed that a major focus was to shorten the gap.

“We have some amazing clinicians who are undertaking these trials and now we have to think - how do we start to grow and scale and make sure we sustain our capability? Really it is an ongoing process of research development … and having early conversations with scientists and clinicians.’’

Neurologist Dr Michelle Lorentzos is the Clinical Trials Medical Lead at The Children’s Hospital at Westmead and also emphasised the importance of collaboration.

“It’s really important we work closely with scientists as well as our nurses and doctors for the best outcome for families.’’

Other speakers included neurologist Professor Michelle Farrar from Sydney Children’s Hospitals Network and the CMRI researcher carrying out the project, Dr Andrea Perez-Iturralde.

Dr Mirosevic summed up how many parents of children with rare conditions feel.

“We started with a simple wish—to become parents. But along the way, we've grown into so much more. We've become advocates, tirelessly working to build a better future for our children and lending our voices to others in need.''