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Locally developed test found to increase diagnosis of rare hereditary disorders
LONDON, ON – A clinical trial named “EpiSign-CAN,” led by researchers at Lawson Health Research Institute (Lawson) has been awarded $4.8 million to measure the clinical impact of a new molecular genomics test for diagnosing genetic neurodevelopmental conditions.
Developed at Lawson, the diagnostic test, called EpiSign, uses machine learning to analyze the EpiSign Knowledge Database. This database compiles information on rare genetic diseases using laboratory analyses of the entire genome, referred to as the epigenome, from patients with suspected genetic abnormalities.
A recent paper describes the newly discovered biomarkers for over 50 neurodevelopmental conditions. Dr. Bekim Sadikovic, Lawson Scientist and Head of the Molecular Diagnostics Division at London Health Sciences Centre (LHSC) explains, “before this study, many such conditions required targeted, and often labour intensive and costly assays for a diagnosis, which in many cases provided no conclusive answers. Now, using our EpiSign Knowledge Database which includes the epigenomic information of thousands of patients and controls, we are able to diagnose over 50 conditions with a single test, including in patients where targeted genetic testing was inconclusive.”
The upcoming clinical trial hopes to validate the use of this test in the first-line of diagnosing rare genetic disorders across Canada. “Patients and families typically wait years, and undergo multiple exams and lab tests in search of a definitive diagnosis. With EpiSign, we estimate that we will be able to increase the number of people who receive a diagnoses by five per cent, or more in the future as the database develops” explains Dr. Sadikovic. “Though individual genetic conditions are rare, there are over 4,000 recognized genetic disorders which affect thousands of patients in Canada.”
EpiSign-CAN will study 4,000 patients, who will either receive EpiSign testing as part of the initial diagnostic workup or after classical genetic testing approaches have been exhausted. The goal is to assess the impact of using EpiSign in the first stage of diagnosis vs. after other tests have failed to provide answers in this patient population.
Timely diagnosis will prevent the so called “diagnostic odyssey,” and by doing so has the potential to improve healthcare outcomes for these patients and decrease cost to the health system.
As the EpiSign Knowledge Database continues to grow, researchers are finding correlations between specific episignatures, or molecular DNA markers, and related physiological features across a syndrome.
This research is co-funded through the collaboration of three partners; LHSC, Illumina, and Genome Canada. This is the first time researchers at Lawson have been awarded a Genome Canada Genomic Applications Partnership Program (GAPP) grant. “Genome Canada focuses its resources on new innovation that has a strong likelihood of translating directly to patient care. Their support of our work is extremely meaningful,” says Dr. Sadikovic.
The study describing the most recent advancements in EpiSign technology, “Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders,” is published in The American Journal of Human Genetics.
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Lawson Health Research Institute is one of Canada’s top hospital-based research institutes, tackling the most pressing challenges in health care. As the research institute of London Health Sciences Centre and St. Joseph’s Health Care London, our innovation happens where care is delivered. Lawson research teams are at the leading-edge of science with the goal of improving health and the delivery of care for patients. Working in partnership with Western University, our researchers are encouraged to pursue their curiosity, collaborate often and share their discoveries widely. Research conducted through Lawson makes a difference in the lives of patients, families and communities around the world. To learn more, visit www.lawsonresearch.ca.
Senior Media Relations Consultant
Communications & Public Engagement
T: 519-685-8500 ext. 73502
Celine.zadorsky@lhsc.on.ca
London Health Research Day 2016
You are invited to London Health Research Day, presented in partnership by Lawson Health Research Institute and the Schulich School of Medicine & Dentistry.
Showcasing 400 poster and platform presentations from top graduate trainees, this premier research event is your opportunity to learn about health research being conducted across the city of London.
Dr. Peter Libby, 2016 keynote speaker, will be presenting “Inflammation and atherosclerosis: A translational tale” as part of The Lucille & Norton Wolf Health Research Lecture Series. Dr. Libby is a cardiovascular specialist at Brigham and Women's Hospital in Boston, Massachusetts, and holds the Mallinckrodt Professorship of Medicine at Harvard Medical School. His current major research focus is the role of inflammation in vascular diseases.
Guest registration is required for the lunchtime keynote speaker at 11:30 a.m. and the wine and cheese awards reception at 5:30 p.m. The day also features workshops with industry leaders. Register today!
Date: Tuesday, March 29, 2016
Time: 7:30 a.m. - 6:30 p.m. View the full event schedule.
Location: The DoubleTree by Hilton London Ontario and London Convention Centre. See location details.
London Health Research Day 2017
You are invited to London Health Research Day, presented in partnership by Lawson Health Research Institute and the Schulich School of Medicine & Dentistry. Showcasing hundreds of poster and platform presentations from top graduate trainees, this premier research event is your opportunity to learn about health research being conducted in London.
Guest registration is required for the lunchtime keynote speaker at 11:45 a.m. and the networking and awards reception at 5:30 p.m.
Register today.
Dr. Paul Thagard, 2017 keynote speaker, will be presenting “Explaining Mental Illness” as part of The Lucille & Norton Wolf Health Research Lecture Series.
Dr. Thagard is Professor Emeritus of Philosophy at the University of Waterloo, where he founded the Cognitive Science Program. He has written many papers and books, including The Cognitive Science of Science (MIT Press, 2012) and How Scientists Explain Disease (Princeton University Press, 1999). His main research areas are philosophy of science and medicine, cognitive science and philosophy of the mind.
LHRD Poster Passports and Prizes
All guests and participants will receive a LHRD poster passport card. Throughout the day you can visit different posters and engage with presenters to fill up your passport for a chance to win a prize. Draws for both the morning and afternoon sessions will take place at the networking and awards reception – attend to find out if you’re a winner!
EVENT DETAILS
Date: Tuesday, March 28, 2017
Time: 7:30 a.m. to 6:30 p.m. View the full event schedule.
Location: London Convention Centre. See location map and transportation/parking details.
Registration is required
London Health Research Day 2018
Register today for London Health Research Day (LHRD) and experience the largest research-focused activity in Southwestern Ontario.
With hundreds of presentations from top learners, LHRD is your opportunity to learn about health research being conducted in the city of London. Dr. Janet Smylie, an international leader in the field of Indigenous health and health research, is this year’s keynote speaker as part of The Lucille & Norton Wolf Health Research Lecture Series.
Dr. Smylie will also join a group of local and national researchers as part of a new event - Exchange: A London Health Research Day Forum on Diversity and Inclusivity.
Exchange: A London Health Research Day Forum on Diversity and Inclusivity
Exchange aims to foster conversations around equity, diversity and inclusivity in the careers of health researchers, including gender, and how we can work together to identify and implement solutions.
- Date: Wednesday, May 9, 2018
- Time: 6:00 - 9:00 p.m.
- Location: North Campus Building, Western University. See campus map.
- Registration is required.
The evening’s presenters include:
- Dr. Janet Smylie – An international leader in the field of Indigenous health and health research
- Dr. Greta Bauer – A scientist at Western University’s Schulich School of Medicine & Dentistry with a special interest in LGBTQ health
- Dr. Alysha Croker – Current manager of the Canada Excellence Research Chairs (CERC) and the Canada First Research Excellence Fund (CFREF) programs at the Tri-agency Institutional Program Secretariat, and previous lead on the development of the Canadian Institutes of Health Research’s (CIHR’s) Equity Strategy
- Shantal Feltham – Founder of Stiris Research, a London-based North American clinical trial management company
- Learners from Schulich Medicine & Dentistry, training in labs at Western and Lawson Health Research Institute
London Health Research Day 2018
- Date: Thursday, May 10, 2018
- Time: Registration begins at 7:30 a.m. View the full event schedule.
- Location: London Convention Centre. See location map and transportation/parking details.
- Guest registration is required for the lunchtime keynote speaker and the networking and awards reception.
London Health Research Day is presented in partnership by Lawson Health Research Institute and the Schulich School of Medicine & Dentistry.
London Health Research Day 2021 - VIRTUAL
Discover London's health research community by joining learners and researchers virtually at the 2021 London Health Research Day scheduled for May 11.
London Health Research Day is an opportunity to learn about research happening in labs and clinics across the city while engaging in scientific discussion.
LHRD 2021 is going virtual, offering a wide range of workshops, a keynote lecture, and several days dedicated to research presentations.
Registration
Register now for an opportunity to review research presentations or to take part in the workshops or keynote lecture. Due to a limited attendance capacity, pre-registration is required. Don’t miss your opportunity to take part in LHRD 2021!
Please note: If you are a poster presenter, you will receive an email from Janelle Pritchard with instruction on your pre-registration. Please follow directions as outlined in her communication for registration and to sign up for the sessions taking place on May 11.
Registration deadline is May 5, 2021.
Event Day Agenda
View the full event schedule here.
Morning Workshops
10:15 – 11:45 a.m. – Workshop options:
Science to Business Network Presents (S2BN): Insights into Industry- Exploring Careers for Graduate Students
Hosted by S2BN London, this workshop features a panel of esteemed industry professionals who will discuss their unique career journeys, the skills and knowledge needed to excel in their positions, and steps graduate students can take to enter these industries and succeed. This 90-min session will consist of a panel discussion moderated by Dr. Bruce Seet, Director of Medical Affairs at Sanofi Pasteur and President of S2BN. The panel discussion will be followed by an opportunity to network and interact with the panelists.
Reforming Equity, Diversity and Inclusion in Academic and Professional Health Settings: Fundamentals, Gaps and Accountability
In this 90-minute interactive workshop, learn directly from advisors, experts, and trainees on how to adopt equity, diversity, and inclusion practices in academic and health research health settings.
The Lucille & Norton Wolf Health Research Lecture Series – featuring Andrew Au
12:00 – 1:30 p.m.
Afternoon Workshops
1:30 – 3:30 p.m. - Workshop options:
Knowledge Mobilization via The Conversation Canada
The Conversation Canada is a daily independent online publication, delivering analysis and explanatory journalism from the academic and research community directly to the public. Deputy Editor Hannah Hoag and Editor-in-Chief Scott White will explain the mission of The Conversation Canada, offer some background on how it helps academics with knowledge mobilization and give some tips on how to pitch a really great story idea. This is an interactive workshop where participants are encouraged to bring story ideas to discuss.
Interview Skills/Strategies for Academic and Non-academic Positions
This workshop consists of two concurrent sessions focused on interview skills/strategies needed for academic and non-academic job positions. During the workshop, a panel of speakers who have vast proficiency in the recruitment process will share their experiences with attendees.
Academic Program for Learners
Abstract submissions:
LHRD) showcases the incredible work done by learners — graduate students, trainees, clinical fellows and postdoctoral scholars. Abstract submission is now closed.
Go to the LHRD website for more information for participants.
The Lucille & Norton Wolf London Health Research Day Trainee Publication Awards:
Thanks to the personal generosity of Lucille and Norton Wolf, we are pleased to issue a call for The Lucille & Norton Wolf London Health Research Day Trainee Publication Awards.
Learn more about the eligibility criteria and how to apply.
London Health Research Day is presented in partnership by Lawson Health Research Institute and the Schulich School of Medicine & Dentistry.
London Health Research Day 2024
The 2024 London Health Research Day will take place on Tuesday, May 7 at the Mustang Lounge on Western University Campus.
If you are a learner or trainee doing research at Lawson Health Research Institute, Western’s Schulich School of Medicine & Dentistry or the Faculty of Health Sciences, please save the date so you can share your projects with your peers, researchers, faculty and mentors.
Researchers, faculty and staff are also encouraged to attend to support our learners and trainees as they showcase their groundbreaking health research.
Add event to calendar
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London Health Research Day is presented in partnership with Lawson Health Research Institute and the Schulich School of Medicine & Dentistry.
Keynote Address
London Health Research Day (LHRD) 2024’s distinguished keynote speaker is Laura Rosella, PhD, Canada Research Chair in Population Health Analytics at the University of Toronto.
When: 12:15 p.m. – 1:15 p.m. | May 7, 2024
Where: McKellar Room – University Community Centre (UCC) 2nd Floor
Topic: The AI Tipping Point: Future Directions for the Applications of AI for Health
How can we navigate the complex landscape of artificial intelligence (AI) in the health sector? What are the myths, the debates and the skepticism surrounding the role of AI in health care? This keynote addresses these burning questions, outlining a proposed direction, ranging from discovery to clinical and public health applications.
Data and analytics have never been more important in society, particularly for informing health decisions. There has been a rapid change in the nature of data used in health and epidemiologic research and an increased focus on using AI in analyzing those emerging data sources.
There are many conflicting points of view on the utility of AI in an epidemiologic context and a lack of clarity on the implications for medicine and public health.
The keynote will include insights on regulatory considerations required to move these discoveries into practice as well as implications for bias, equity, surveillance, and causal inference. We will conclude by summarizing the implications for epidemiology research and training.
Speaker Biography:
Laura C. Rosella, PhD, is the Stephen Family Research Chair in Community Health at the Institute for Better Health. She is also an epidemiology professor at the Dalla Lana School of Public Health at the University of Toronto. In addition to this, she holds the Canada Research Chair in Population Health Analytics.
Rosella is the Education Lead for the Temerty Centre for Artificial Intelligence Research and Education in Medicine. She is also the Associate Director of Education at the Data Science Institute. Rosella is leading the AI for Public Health Research Training Platform (AI4PH). The platform focuses on building an AI workforce specifically for public health.
She has authored over 260 peer-reviewed publications and has received various accolades, including being named one of Canada’s Top 40 Under 40 and being inducted into the Royal Society of Canada’s (RSC) College of New Scholars.
Register to attend the keynote here.
Public Lecture
Mark Daley, PhD, Chief AI Officer at Western.
When: 6:00 p.m. – 7:15 p.m. | May 6, 2024
Where: Labatt Health Sciences Building - Room 40
Topic: How will AI change us? Two ways. Gradually, then suddenly.
Mark is the Chief AI Officer at Western University and a full professor in the Department of Computer Science with cross-appointments in five other departments, The Rotman Institute of Philosophy, and The Western Institute for Neuroscience. He is also a faculty affiliate of Toronto's Vector Institute for Artificial Intelligence.
Mark has previously served as the Vice-President (Research) at the Canadian Institute for Advanced Research (CIFAR), and Chief Digital Information Officer, Special Advisor to the President, and Associate Vice-President (Research) at Western.
Mark is the past chair of Compute Ontario and serves on a number of other boards.
London researchers team up with Diagnostics Biochem Canada to study COVID-19
LONDON, ON – Researchers at Lawson Health Research Institute (Lawson) and Western University have teamed up with local biotech company, Diagnostics Biochem Canada Inc. (DBC), to help us better understand COVID-19 and the body’s immune response to the infection.
A recently published study followed 28 critically ill patients at London Health Sciences Centre (LHSC); 14 who tested positive for COVID-19 and 14 who tested negative. They also followed 14 mildly ill non-hospitalized patients with COVID-19 and 14 healthy controls. The researchers tracked their body’s immune responses and found that all COVID-19 positive patients had a robust antibody response to the infection, even those with poorer outcomes.
“Our previous research showed that in severe cases of COVID-19, the body produces what’s called a cytokine storm, or an intense, initial immune response. However, in this new study, we observed that after a few days and weeks in critical care, the body produced a later, humoral antibody response that is equivalent to what we would expect with any similar infection,” explains Dr. Douglas Fraser, lead researcher and Critical Care Physician at LHSC.
Patients with COVID-19 reacted to the infection and produced ample anti-SARS-CoV-2 antibodies, including those who passed away. This finding suggests that blunted immune responses – when there is a lack of antibody production - did not contribute to mortality. Dr. Fraser says that based on their data, the focus of treatment should shift to combatting the viral load a person receives, and the body’s more immediate reaction to the infection.
This research was made possible through a collaboration between Lawson, Western and DBC, with DBC providing the serological testing kits.
“DBC was the first Canadian company to launch Health Canada-authorized serological tests for COVID-19 and we are happy that our scientists have been working with Lawson on this important study. We look forward to continuing this collaboration and supplying Canadian labs with much needed serological tests,” says Manon Hogue, CEO at DBC.
Analyzing serum antibody levels using a blood test could help improve patient outcomes by allowing early identification of who may require certain treatments, and guide decisions around patient cohorting. In addition, serological testing allows for viral surveillance and its immunity in the community.
London West MP, Kate Young adds, “London is once again showing the world that we are leading the way in scientific research into our most pressing health issues. It’s great to see a local business, Diagnostics Biochem Canada Inc., team up with the Lawson Health Research Institute to help better understand Covid-19. Working together they will help us unlock the keys to how Covid-19 impacts the body’s immune system.”
The study, “Critically Ill COVID-19 Patients Exhibit Anti-SARS-CoV-2 Serological Responses,” is published in the journal Pathophysiology.
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Lawson Health Research Institute is one of Canada’s top hospital-based research institutes, tackling the most pressing challenges in health care. As the research institute of London Health Sciences Centre and St. Joseph’s Health Care London, our innovation happens where care is delivered. Lawson research teams are at the leading-edge of science with the goal of improving health and the delivery of care for patients. Working in partnership with Western University, our researchers are encouraged to pursue their curiosity, collaborate often and share their discoveries widely. Research conducted through Lawson makes a difference in the lives of patients, families and communities around the world. To learn more, visit www.lawsonresearch.ca.
We have been exporting our products around the globe for over 47 years. As a leader in the industry, it has always been our goal to offer a wide range of test kits and continually introduce new and unique products to the marketplace. It is our strong commitment to research, development, and manufacture that has enabled us to offer our customers ongoing, unique, and quality products.
The Schulich School of Medicine & Dentistry at Western University is one of Canada’s preeminent medical and dental schools. Established in 1881, it was one of the founding schools of Western University and is known for being the birthplace of family medicine in Canada. For more than 130 years, the School has demonstrated a commitment to academic excellence and a passion for scientific discovery.
Senior Media Relations Consultant
Communications & Public Engagement
T: 519-685-8500 ext. 73502
Celine.zadorsky@lhsc.on.ca