In collaboration with Genomics England, researchers at the BC Children’s Hospital Research Institute are launching a new project that will create a collective pool of 1100 patients with two subsets of rare diseases, intellectual disability and epileptic encephalopathies. 

Despite facing steep odds after being orphaned at a young age, Dr. Elgendi earned a PhD in biomedical engineering and now pursues innovative research projects as a UBC postdoctoral fellow supervised by Dr. Kenneth Lim and Dr. Rabab K. Ward. His research is supported by a BC Children’s Hospital Research Institute Mining for Miracles Postdoctoral Fellowship.

For many patients with a rare disease, diagnosis is a years-long odyssey involving visits to multiple specialists, invasive testing and fruitless or missed treatments. The C4R-Solve Project will increase access to state-of-the-art genomic and other innovative ‘omics’ testing, giving patients and families with rare diseases long-awaited answers and helping doctors provide the best possible care.

BC Children’s Hospital’s role as a national leader in the field of pediatric precision health was highlighted today with the announcement of the result of Genome Canada’s 2017 Large-Scale Applied Research Project competition.

Asthma is the most common chronic disease of childhood, affecting one in seven Canadian children and costing the health care system more than $2-billion per year. Current treatments can manage the symptoms of asthma, but there is no effective way to prevent or cure this dangerous, chronic condition.

For patients with rare, unexplained disorders and their families, genome-wide sequencing can provide much-needed answers but it can also raise a lot of questions. Families need clinical expertise and emotional support to make informed decisions.

The powerful drugs that treat cancer can sometimes have unintended consequences. Adverse Drug Reactions (ADRs), also known as “side-effects,” can result in pain and disability, interruptions in treatment and even death. Research led by Dr. Bruce Carleton has identified some of the genetic differences that can identify whether a child is at increased risk of developing ADRs and has implemented this predictive test at BC Children’s.

Non-invasive prenatal screening can accurately detect Down syndrome and other chromosomal abnormalities in the first trimester of pregnancy with a simple blood test. Because of its relatively high cost, NIPS is currently only used on mothers who have already tested positive on a less expensive and less accurate test.

Precision medicine, the creation of new precisely targeted therapies with a patient’s genetic information, is poised to revolutionize treatment and care, particularly for children with complex health conditions caused by genetic disease. Significantly, Indigenous Canadian communities are increasingly left behind in this “genomics revolution” and continue to face longstanding barriers to accessing health care.

Lisa Decotret knows firsthand the destructive effects of cancer, she is a childhood cancer survivor herself.

On the surface, our skin is a barrier surrounding our bodies. But underneath those layers, our skin tells a bigger story — it plays a vital role in protecting us from diseases. Understanding the skin’s immune system is the main goal of Paulina Piesik, a UBC doctoral student working at BC Children’s Hospital with Dr. Jan Dutz.

Crohn’s disease and ulcerative colitis are gastrointestinal autoimmune diseases that can make it difficult for children to enjoy everyday activities and absorb the nutrients they need to grow. Shauna Crowley talks about how her research on the microscopic world inside our guts could lead to new treatments for these painful, lifelong conditions.

In remote and under-served areas with limited access to health care, research has shown that as many children die following discharge as during their stay in the hospital, about 5 to 10 per cent in each case. Many of these post-discharge deaths are caused by sepsis, a severe over-reaction of the immune system to infection that can lead to organ failure, tissue damage and death.

Among health care workers who care for children with cerebral palsy (CP), hip displacement is known as a “silent problem.”

The amount of close and comforting contact between infants and their caregivers can affect children at the molecular level, an effect detectable four years later, according to new research from the University of British Columbia and BC Children’s Hospital Research Institute.

World Pneumonia Day is November 12, 2017. Established in 2009, World Pneumonia Day aims to raise awareness of the impact that the illness has around the world. Globally, pneumonia is the leading infectious killer of children under the age of five and kills an estimated one million kids each year.

BC Children’s Hospital is home to a robust research community dedicated to transforming child health in BC and beyond. Through our new newsletter – BC Children’s Hospital Research – we want to share our latest and greatest with you!

We are very pleased to congratulate the BC Children's Hospital investigators who are recipients of 2017 UBC Faculty of Medicine Awards.