Whole-genome detection and interpretation of repeat expansions in autism and related disorders Ryan Yuen, PhD Scientist | Genetics & Genome Biology Technology 1-Pager Lab Website Advancements in genome analysis have greatly improved gene discovery and clinical diagnosis for many human diseases, with genome sequencing becoming the current standard. While genome-sequencing data has enabled the identification of all classes of genetic variation, there are still difficulties in resolving genetic changes in more complex disorders, such as autism spectrum disorder (ASD). Despite over 100 genetic factors identified [...]

Machine learning-driven NGS-based diagnostic tests to optimize clinical response in oncology Adam Shlien, PhD Associate Director | Translation Genetics Department of Paediatric Laboratory Medicine Uri Tabori, MD Staff Physician | Haematology/Oncology​ Senior Scientist | Genetics & Genome Biology Technology 1-Pager Dr. Shlien Full Bio Dr. Tabori Full Bio Dr. Roman Melnyk has brought his industry experience from Merck & Co. to his role as a Senior Scientist at SickKids. The Melnyk lab has developed a delivery platform that can transport various cargo [...]

MATCH: Machine learning algorithms for toxicity and cardiac health Jason Maynes, PhD/MD Senior Scientist | Molecular Medicine Technology 1-Pager Lab Website Current drug discovery and animal models of cardiac function do not accurately predict cardiac activity or toxicity, resulting in the failure of 30% of drug candidates in development, market removal of 16% of approved drugs, and as a result, the loss of billions of drug development dollars. To identify cardiotoxic compounds earlier in the drug discovery continuum, Dr. Jason Maynes, the Director of Research [...]

Highly sensitive diagnostic tests for the prevention of sudden cardiac death Robert Hamilton, MD Staff Cardiologist Senior Scientist | Translational Medicine Technology 1-Pager Full Bio Sudden Cardiac Death (SCD) causes more years of potential life lost than any other non-cancer disorder. The diagnosis of some SCD disorders, including Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and Brugada Syndrome (BrS), is difficult and expensive using current clinical assessments, and after complete workup 2/3 of ARVC patients still go undiagnosed. Dr. Robert Hamilton, a clinician scientist at SickKids, led [...]

Engineered human alveolar-like macrophages as a cell therapy for respiratory diseases Martin Post, PhD Senior Scientist | Translational Medicine Technology 1-Pager Lab Website Currently, there are inadequate therapeutic options for major respiratory diseases caused by prolonged inflammation leading to tissue damage and infection. Regenerative medicine for lung diseases has largely focused on the lung tissue lining, but the lung immune system has often been overlooked in approaches to disease treatment. The most abundant cell population in the lung airways are the alveolar macrophages (AM), which [...]

Methods of treating trinucleotide repeat expansion diseases Christopher Pearson, PhD Senior Scientist | Genetics & Genome Biology Technology 1-Pager Full Bio Dr. Christopher Pearson is a Senior Scientist at SickKids with over 25 years of research in molecular genetics. The Pearson lab works on rare conditions that are caused by unnatural slips and loops in the DNA, such as Huntington’s disease, ALS, and 40+ other neurodegenerative diseases. In affected patients, these loops expand in size as the patient ages and eventually this results in the [...]

A novel cell-penetrant delivery platform applied to a pan-Ras targeting anti-cancer therapy Roman Melnyk, PhD Senior Scientist | Molecular Medicine Technology 1-Pager Lab Website Dr. Roman Melnyk has brought his industry experience from Merck & Co. to his role as a Senior Scientist at SickKids. The Melnyk lab has developed a delivery platform that can transport various cargo into cells for diverse applications, including proteins of therapeutic significance as well as the CRISPR/Cas9 gene editing machinery. Ras is a class of GTPase proteins that plays [...]

Novel therapeutic compositions for degrading bacterial and fungal biofilms P. Lynne Howell, PhD Senior Scientist | Molecular Medicine Technology 1-Pager Lab Website Bacteria and fungal colonies produce a protective coating barrier called a biofilm, which makes it difficult for traditional antibiotics to penetrate the organisms. Dr. Lynne Howell is a Senior Scientist in the Molecular Medicine program at SickKids, and her team is focused on understanding how these biofilms are formed. In collaboration with the Sheppard lab at McGill University, they discovered a group of [...]