Grant to establish national initiative advancing rare disease research and patient care
SickKids Foundation and The Hospital for Sick Children (SickKids) are pleased to announce the successful application for the Canadian Gene Cure Foundation’s (CGCF) Legacy Fund. The $2.4 million grant is awarded to the research team led by Dr. Monica Justice, Head of the Genetics & Genome Biology program at the SickKids Research Institute.The grant will be endowed at SickKids Foundation and be fuelled by an additional $2.85 million from the Research Institute bringing the total investment to more than $5 million over a 10-year period. The Gene Cure Legacy Fund will be harmonized with a new Advanced Therapies for Rare Diseases Initiative at the SickKids Research Institute. There are more than 7,000 unique rare diseases, which comprise a significant but underserved segment of health care. Currently, nearly 50 per cent of patients are without a definitive diagnosis, and fewer than 300 therapies for these devastating disorders exist. This investment in rare disease research and education has the potential to change the lives of these patients and their families.
As Dr. Michael Salter, Chief of Research at SickKids explains, “If all patients with rare disease are considered together as one group, their number would make them the third most populous country in the world. What we’re doing, as genetics and genomics become more integrated into everyday practice, is creating the research and educational infrastructure so that we can better diagnose and develop treatments for children with rare diseases. We are grateful to the Canadian Gene Cure Foundation and our SickKids donors for the funding that makes this possible.”
Meet Rian
Rian arrived at the Emergency Department at SickKids when she was four months old after her mother, Shillann, grew concerned that her newborn daughter was “way too sleepy” for a newborn (sometimes sleeping as many as 23 hours a day), and wasn’t reaching her physical milestones.
Upon their arrival, Shillann knew she was in the right place. Staff were attentive and concerned and, ultimately, Rian was referred to the SickKids neurology program and to the specialists in the area of neuromuscular disorders.
Dr. Jim Dowling became Shillann’s “lifeline.” A paediatric neurologist and senior scientist in the SickKids Genetics and Genome Biology program, his specialty is in childhood neuromuscular disorders. He co-directs the neuromuscular undiagnosed diseases program. This clinic is the first of its kind in Canada and aims to provide expert diagnostic assessment for children with unsolved muscle disease.
A seven month process of testing began and, at 11 months of age, Rian was diagnosed with AADC deficiency. She is one of 130 children worldwide with this diagnosis and she is the first to be diagnosed with it at SickKids.
This rare disorder affects the brain’s ability to produce two neurotransmitters and affects development of motor skills. Rian is quite severely affected in terms of motor development. She still struggles with head and neck control and suffers from seizure-like episodes called oculargyric crises. She has had multiple hospital admissions as she is medically fragile.
Rian visits her metabolic doctor monthly to monitor the nine different medications she is currently taking to help alleviate the symptoms of her complex condition. She is also seen by the SickKids department of dentistry, the gastrointestinal clinic, the department of ophthalmology and the division of cardiology.
To learn more about Canadian Gene Cure Foundation’s Legacy Fund grant, read the press release.
Rian arrived at the Emergency Department at SickKids when she was four months old after her mother, Shillann, grew concerned that her newborn daughter was “way too sleepy” for a newborn (sometimes sleeping as many as 23 hours a day), and wasn’t reaching her physical milestones.
Dr. Jim Dowling became Shillann’s “lifeline.”
Dr. Jim Dowling became Shillann’s “lifeline.” A paediatric neurologist and senior scientist in the SickKids Genetics and Genome Biology program, his specialty is in childhood neuromuscular disorders. He co-directs the neuromuscular undiagnosed diseases program. This clinic is the first of its kind in Canada and aims to provide expert diagnostic assessment for children with unsolved muscle disease.
A seven month process of testing began and, at 11 months of age, Rian was diagnosed with AADC deficiency. She is one of 130 children worldwide with this diagnosis and she is the first to be diagnosed with it at SickKids.
This rare disorder affects the brain’s ability to produce two neurotransmitters and affects development of motor skills. Rian is quite severely affected in terms of motor development. She still struggles with head and neck control and suffers from seizure-like episodes called oculargyric crises. She has had multiple hospital admissions as she is medically fragile.
Rian visits her metabolic doctor monthly to monitor the nine different medications she is currently taking to help alleviate the symptoms of her complex condition. She is also seen by the SickKids department of dentistry, the gastrointestinal clinic, the department of ophthalmology and the division of cardiology.
To learn more about Canadian Gene Cure Foundation’s Legacy Fund grant, read the press release.
