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World’s leading children’s research hospitals join forces to develop new treatments for rare diseases

Institute News
Monday, March 1, 2021 - 11:31am

Ahead of Rare Disease Day (February 28), four leading children’s research institutions on three continents are joining forces, to rapidly diagnose paediatric illnesses, including rare diseases, and find better treatments. 

The four paediatric centres — the Murdoch Children’s Research Institute with The Royal Children’s Hospital and University of Melbourne (Melbourne Children’s Campus; Melbourne, Australia); The Hospital for Sick Children (SickKids; Toronto, Canada); Boston Children’s Hospital (Boston, USA) and the UCL Great Ormond Street Institute for Child Health and Great Ormond Street Hospital (London, UK) - will pool their medical and scientific expertise to analyse medical and genomic data to accelerate discovery and therapeutic development.

The partnership, known as the International Precision Child Health Partnership (IPCHiP), is the first major global collaboration around genomics and child health. The founding partners anticipate that additional institutions will join the collaboration in the future.

Of the more than 7,000 rare diseases that affect millions of people globally, only a few hundred have approved treatments. Many of these diseases mean children suffer their whole lives, or may die early from complications, sometimes just a day after birth.

IPCHiP’s goal is to enable the world’s top experts in child health and genomics to work together to improve diagnosis, implement personalised treatment decisions, and develop new therapeutic targets and treatments that will benefit children around the world.

Professor Kathryn North AC is Director of the Murdoch Children’s Research Institute in Melbourne, Australia and an IPCHiP principal investigator. Professor North said, “IPCHiP brings together the clinical and research strengths of the four leading children’s medical research institutions internationally. This is a critical mass of leading researchers together with a critical mass of patients. The whole is definitely greater than the sum of its parts when it comes to genomic collaborations.

“So much of paediatrics deals with genetic, often ‘rare’ diseases, and so the combination of complementary research strengths, experience and patient cohorts will empower greater research collaboration. Ultimately, this partnership will help us find answers that families are desperately seeking, and the treatments their kids desperately need, much more quickly. 

“This is a research collaboration bringing together the best minds in the world to accelerate discovery research and develop effective therapies for the world’s most precious resource – our kids.”

IPCHiP’s first project will involve severe infant epilepsy, combining research efforts already underway at the four centres. 

Investigators at each site will prospectively enrol babies diagnosed with epilepsy in their first year after birth, sequence their genomes, change treatment based on the findings as appropriate, and follow their development long term. The study will compare infants who receive a genetic diagnosis with those for whom no genetic answer can be found. 

In Melbourne, this will be performed by a team including neurologists, genetic counsellors and allied health specialists. 

Melbourne mum Karsha Trowbridge’s son Levi, 13 months, has KCNQ2 epileptic encephalopathy, a rare genetic disorder that causes frequent seizures.

Levi was diagnosed at three weeks of age after taking part in a rapid genomic testing program for critically ill children at the Victorian Clinical Genetics Services, the genetic testing arm of MCRI.

Ms Trowbridge said rather than waiting on tenterhooks for six months, they had a diagnosis within days.  

“Levi was three days old and I had just bought him home from hospital when he had his first major seizure,” she said. “It was a terrifying time, watching your baby having multiple seizures a day, and at times, turning blue and holding his breath. Levi was on life support when he was at his weakest and there were days where we weren't allowed to hold him because it could affect his test results. But when we got a diagnosis that changed everything. We were no longer kept in the dark, not knowing how to help our child.” 

Ms Trowbridge said after changing medications Levi went from having five seizures a day to not having any since February last year.

She said the global partnership would offer hope to many families around the world.

“By sharing resources and knowledge, researchers can test and tailor new treatments for children with rare conditions,” she said.

Neurologist and MCRI lead researcher with IPCHiP, Dr Katherine Howell is Levi’s epilepsy specialist. “Having a prompt genetic diagnosis guided our choice of seizure medication, with dramatic effect. Most other antiseizure medications wouldn’t have worked for Levi. We’ve had a glimpse with individual babies like Levi of the possible benefits of prompt genetic diagnosis, but we now want to understand how much benefit this approach might provide to all the infants we see with these devastating conditions” she said.

“In Melbourne we only see about 30 babies like Levi every year, but by following the outcomes of hundreds of infants with epilepsy who receive cutting-edge genetic sequencing, genetic counselling and precision treatments across the IPCHiP consortium, we will be able to treat genetic epilepsy faster, more precisely and with better outcomes.”

After initial seed funding by each institution, the collaboration anticipates additional funding through national health and medical research grants within each country, and philanthropic efforts. The collaborative as a whole has received support from the International Venture Philanthropy Network. 

Available for interview: 

Professor Kathryn North AC – MCRI Director MCRI and IPCHiP Principal Investigator
Dr Katherine Howell – Paediatric neurologist and clinician-scientist, Levi’s treating clinician
Karsha Trowbridge (mum) and Levi (bub), who have benefited from genomic sequencing

Media Contacts:

Tom Keeble
MCRI Communications Manager 
+61 400 764 084
tom.keeble@mcri.edu.au 

About the Melbourne Children’s Campus

Melbourne Children’s physically brings together four organisations; The Royal Children’s Hospital Melbourne, the Murdoch Children’s Research Institute, the University of Melbourne, Department of Paediatrics and The Royal Children’s Hospital Foundation at a single, purpose-built and multi-award-winning campus in the city of Melbourne. Melbourne Children’s is a fully integrated paediatric teaching hospital and research institute which is unique in Australia and acclaimed internationally. The purpose of Melbourne Children’s is to collaborate, as world leaders, in advancing child and adolescent health through prevention, early intervention and health promotion, together with the highest quality clinical care, outstanding research and comprehensive education and training. The Royal Children’s Hospital Foundation provides invaluable philanthropic support to Melbourne Children’s, enabling the campus to pursue innovative, world-leading clinical, research and teaching opportunities to deliver high quality paediatric care and successful prevention strategies.

About Boston Children’s Hospital

Boston Children’s Hospital is ranked the #1 children’s hospital in the nation by U.S. News & World Report and is the primary pediatric teaching affiliate of Harvard Medical School. Home to the world’s largest research enterprise based at a pediatric medical center, its discoveries have benefited both children and adults since 1869. Today, 3,000 researchers and scientific staff, including 9 members of the National Academy of Sciences, 23 members of the National Academy of Medicine and 12 Howard Hughes Medical Investigators comprise Boston Children’s research community. Founded as a 20-bed hospital for children, Boston Children’s is now a 415-bed comprehensive center for pediatric and adolescent health care. For more, visit our Discoveries blog and follow us on social media @BostonChildrens, @BCH_Innovation, Facebook and YouTube.

About The Hospital for Sick Children (SickKids) (Toronto)

The Hospital for Sick Children (SickKids), affiliated with the University of Toronto, is Canada's most research-intensive hospital and the largest centre dedicated to improving children's health in the country.  With passionate and dedicated staff, SickKids is much more than a hospital. We work each day to provide the best in child and family-centred care, create ground-breaking clinical and scientific advancements, and train the next generation of experts in child health.  SickKids is a founding member of Kids Health Alliance, a network of partners committed to advancing excellence and expertise in the delivery of paediatric care in Ontario.

About UCL Great Ormond Street Institute for Child Health

The UCL Great Ormond Street Institute of Child Health (GOS ICH) which, together with its clinical partner Great Ormond Street Hospital for Children (GOSH), forms the largest concentration of children's health research in Europe. The inspirational mission of the UCL Great Ormond Street Institute of Child Health is to:"improve the health and well-being of children, and the adults they will become, through world-class research, education and public engagement".

Additional quotes from IPCHiP partners:

“We’re looking to combine the strength of each institution and find areas where we can pair genomic data with phenotype data to find answers for these patients. We will prioritize projects that have the possibility of making a difference in their care, perhaps even by repurposing an existing treatment. We’re bringing together the world’s top experts in genomics, rare disease, pediatric medicine, and computational science to develop precision approaches to benefit children everywhere. In addition, we think our large patient cohorts will enable partnership with industry when a discovery advances to clinical trials.” - David A. Williams, MD, chief scientific officer of Boston Children’s Hospital and an IPCHiP principal investigator

“We hope to demonstrate the impact og a genetic diagnosis in babies with epilepsy. Will it alter treatment? Will children who obtain a precise genetic diagnosis have changes in treatment and fewer seizures? This collaboration is an opportunity to systematically provide answers to these questions, starting with a pilot of 100 children and hopefully extending to several hundred children in the coming years.” - Annapurna Poduri, MD, MPH, lead, Boston Children’s Hospital arm of the epilepsy project.

“Being able to harness the expertise of global leaders in paediatrics and genomics gives us an unprecedented opportunity to be able to deliver rapid genetic diagnoses at scale to the sickest kids, which we believe will transform the lives of these children and their families.” - Professor John Christodoulou AM, Director, Genetics Theme, MCRI; Chair in Genomic Medicine, Department of Paediatrics, The University of Melbourne