Blog: Cracking the Rare Disease Code

EpiSign’s groundbreaking work in Ontario for the world

For years, Ontarians have been hearing about our crumbling health care system but there are many silver linings to the cloudy situation our hospitals are dealing with.

One of them is the groundbreaking work Dr. Bekim Sadikovic at Lawson Health Research Institute and London Health Sciences Centre has been doing with biotech company, Illumina. In their quest to better detect rare diseases, Dr. Sadikovic has created the clinically validated EpiSign test, which uses machine-learning algorithms and compiles them into the EpiSign™ Knowledge Database.

EpiSign: Cracking the Rare Disease Code

Thanks to funding from Ontario Genomics, Genome Canada and their Genomic Applications Partnership Program (GAPP), the EpiSign™ project is helping doctors cut down on long and agonizing diagnosis wait times by efficiently bringing answers and treatment options to more of the 1 in 15 Canadian children born with a rare disease.

Not only does this mean peace of mind and quicker access to the right support for those children, it’s critical relief to our health care system by speeding up the diagnosis process and easing the pressure on hospitals since 1 in 4 pediatric hospital beds are occupied by a child with a rare disease.

Dr. Bekim Sadikovic at Lawson Health Research Institute and London Health Sciences Centre

This incredible work has been an evolution. After all, projects like these don’t happen overnight! It takes many years of collaboration and many rounds of funding. When Dr. Sadikovic’s team applied for their first round of GAPP funding in 2019, they were able to detect 19 different disorders across 30 genes. Five years later, the most recent version of EpiSign™ has 116 different indicators covering 126 disorders. This number will only continue to grow in the years to come and while this much needed innovation was created here in Ontario, it’ll be a benefit to the rest of the world.

BioCreate Cohorts 4 & 5 are now open

BioCreate Program

Ontario Genomics’ BioCreate program is now open to small- and medium-sized enterprises (SMEs) in southern Ontario looking to commercialize genomics and engineering biology enabled products and/or technologies in the health, food and agriculture, and cleantech sectors at a Technology Readiness Level (TRL) of 4+.

What does BioCreate do? We provide funding, access to mentorship and business support to help companies bring new products and technologies to market.

Program Highlights:
  • Direct, non-repayable funding of $150,000.
  • Access to 18 months of intensive business mentorship and critical infrastructure provided by Ontario Genomics’ strategic sectoral and regional partnerships.
  • An investor showcase for each cohort, giving companies the opportunity to pitch to investors and potential partners.
Biocreate header with three phases
Application Steps and Dates

Interested? Review the Program Guide for more information on BioCreate, including eligibility requirements and evaluation criteria, then fill out the BioCreate intake form and a representative from our team will reach out to discuss your project idea. Eligible applicants will be invited to submit an application.

If you have questions, please contact

The deadline to submit an intake form for Cohort 4 & 5 is June 23, 2024. Additional details and the application process can be found on the BioCreate page.

Complete the intake form now to find out more about your company’s eligibility!

The BioCreate program is supported by the Government of Canada through the Federal Economic Development Agency for Southern Ontario (FedDev Ontario) and Ontario Genomics. The current budget is greater than $7 million over five years.

Canada SynBio 2024 – Unlocking the Future

Registration for Canada SynBio 2024 is officially open!


Canada SynBio is back for a 6th edition. Canada’s premier engineering biology event happens

This one-of-a-kind conference gives national and international engineering (synthetic) biology leaders the chance to connect, create inter-sector partnerships and help Canada become the major player in the global bioeconomy we know it can be. This year’s theme is Unlocking the Future.

Along with the networking opportunities are hearing from experts in the field. We are excited to announce our first keynote speaker: Dr. Cindy Gerhardt, Founder and CEO, Dr. Gerhardt is a visionary and innovator who spearheads a national open innovation ecosystem for biotech and food tech in the Netherlands. Her guiding principles are simple: respect people, animals and our planet.

Dr. Cindy Gerhardt, Founder and CEO,

Our dynamic conference program features a wide range of presentation topics including:

  • Cellular agriculture
  • Bioconversion
  • AI and health
  • Strategy and policy frameworks
  • Training
  • Entrepreneurship
  • Mining solutions

You’ll also get the chance to participate in immersive networking events and be inspired by cutting-edge academics, start-ups, and established industry leaders.

Register today to take advantage of early-bird registration rates. Prices go up on June 1.

If you’re interested in becoming a partner at Canada SynBio, please email Luana Fiorotto at

Ontario Genomics Welcomes New Interim Leadership

As an update to the recent resignation of our President and CEO, Bettina Hamelin, Ontario Genomics is thrilled to announce our interim leadership team, effective Monday April 1.

We are pleased to share that Stephen Cummings, a familiar face from our board of directors, will be stepping into the role of Interim CEO on a part-time basis over the next six months. Under the direction of the Board of Directors and in close collaboration with our management team, Stephen will oversee the strategic direction of our organization and support the Board in the recruitment process for the new President and CEO. Stephen brings over 30 years of extensive experience in financial and executive leadership roles. His nine-year tenure on our board, coupled with his expertise in strategic business advisory as CEO of Rizolve Partners and private equity / venture capital, uniquely positions him to guide us through this transition period with a steady hand.

Additionally, Jordan Thomson, currently serving as our Vice-President of Strategic Partnerships and Programs, will assume the responsibilities of Interim COO for the next six months. In this role, Jordan will provide continuity of Ontario Genomics operations in close collaboration with our management team, overseeing the daily operations and managing the team. Jordan’s impressive 16-year career spanning industries such as chemical process development, strategy, and business support, makes him an ideal candidate for this role. His track record of driving growth and fostering partnerships within Ontario Genomics underscores his commitment to our organization’s mission.

Together, Stephen and Jordan will collaborate closely with the Board of Directors and leadership team to ensure continuity, success, and a seamless transition for Ontario Genomics. Their collective expertise and dedication will propel us forward as we continue to innovate and make meaningful contributions to the genomics and engineering biology landscape in Ontario and beyond.

Please join us in welcoming Stephen and Jordan to their new roles! We thank you for your continued support and partnership as we embark on this journey together.

Ontario Genomics Welcomes New Interim Leadership


Ontario Biotech Start-ups Get Government Funding and Business Support

Four local companies are putting Ontario on the global biomanufacturing map

Four new start-ups have been welcomed into BioCreate, Ontario Genomics’ $11.6-million accelerator program providing financial and business support to biotechnology companies that are creating game-changing solutions in the health, food and agriculture, and cleantech industries.

BioCreate is funded by Ontario Genomics and a Government of Canada investment of over $5.6 million, through the Federal Economic Development Agency for Southern Ontario (FedDev Ontario). The program connects highly vetted companies with $150,000 in funding, 18 months of business mentorship and access to critical infrastructure to scale up their products. They’ll also get the opportunity to pitch to investors for further funding.

Here are this round’s recipients:

  • AuX Labs (Toronto) is using precision fermentation to create a vegan version of casein (a natural protein in cow’s milk) to make vegan cheese that melts, stretches, and tastes just like the animal product-based version.
  • Genuine Taste (Toronto) is giving both cultivated meat and plant-based meat better flavour, aroma and texture with their ethical and sustainable cultivated beef fat.
  • mDETECT Inc. (Kingston) has developed highly sensitive blood tests that detect six of the most common cancers and also let doctors know how the cancer is responding to treatment.
  • Inc (Kitchener) is simplifying access to data to make it quicker and easier for drug researchers to organize and accurately interpret findings, getting medications to market faster.

These four companies beat out 33 other applicants to join the 12 health, food and agriculture, and cleantech start-ups that were accepted into the BioCreate program last year.

“Congratulations to the four companies that have joined the BioCreate program as they work to improve the lives of Canadians while creating economic opportunities,” says the Honourable Filomena Tassi, Minister responsible for FedDev Ontario. “It’s our government’s priority to support emerging companies in the health, food, agriculture and cleantech industries so they have access to the tools and resources they need grow and thrive.”

Ontario Genomics President and CEO, Dr. Bettina Hamelin, says, “This game-changing innovation is happening right here in Ontario, creating jobs and advances in the food and agriculture, clean tech and health sectors. We’re also excited these technologies are good for Canadians, as well as people and businesses around the world.”

About Ontario Genomics
Ontario Genomics is a non-profit organization funded by the Government of Ontario and other partners. Since 2000, we’ve been involved with cutting-edge science to find homegrown solutions to challenges the world faces like climate change, food insecurity and in healthcare. Find out more at

About FedDev Ontario
For 14 years, the Government of Canada, through FedDev Ontario, has worked to advance and diversify the southern Ontario economy through funding opportunities and business services that support innovation, growth and job creation in Canada’s most populous region. The Agency has delivered impressive results, which can be seen in southern Ontario businesses that are creating innovative technologies, improving productivity, growing revenues, creating jobs, and in the economic advancement of communities across the region. Learn more about the impacts the Agency is having in southern Ontario by exploring our pivotal projects, our Southern Ontario Spotlight, and FedDev Ontario’s TwitterFacebookInstagram and LinkedIn.


Media Contacts
Maggie Blood
Innovation Communications and Public Affairs Manager

Edward Hutchinson
Press Secretary
Office of the Minister responsible for the Federal Economic Development Agency for Southern Ontario

Ontario Genomics Leadership Update

With mixed emotions, we share news of an important change at Ontario Genomics. Effective March 29, 2024, Dr. Bettina Hamelin, our esteemed President and CEO since August 2017, will be leaving the organization to pursue an exciting new opportunity at Innovative Medicines Canada (IMC). IMC is the national association representing the voice of 48 innovative pharmaceutical companies in Canada. Here, Bettina will continue to take important strides to advance our innovation ecosystem and advocate for policies that enable the discovery, development, and delivery of innovative medicines and vaccines to improve the lives of all Canadians.

Under Bettina’s leadership, Ontario Genomics has flourished, achieving milestones that have marked historic moments in our 24-year history. Her visionary leadership has not only put Ontario Genomics on the map locally, nationally, and internationally but also delivered extraordinary outcomes that have advanced our broader ecosystem.

We extend our deepest appreciation to Bettina, and highlight some of her profound successes over the last 6 years:

  • Leading unprecedented success for our research community, attracting more federal Genome Canada funding and Ontario government project co-funding than ever before;
  • Advancing cutting-edge commercialization of Ontario’s world-leading research with the creation of the Landing Pad and programs;
  • Creating the first-in-class Canadian waste upcycling consortium, , to provide solutions for our global waste crisis;
  • Steering transformational national thought-leadership and engineering biology community building through five consecutive years of ;
  • Championing three insightful publications in the areas of engineering biology, cellular agriculture and clean DNA, evolving Ontario Genomics’ scope into market-relevant and ground-breaking spaces.

Most importantly, we commend Bettina’s transformative strategic vision to advance Ontario Genomics’ commitment to realizing homegrown, bio-based solutions to humanity’s greatest challenges: climate change, food insecurity and acute and chronic disease. With Bettina’s commitment to collaboration and entrepreneurial culture, the Ontario Genomics team is set up for success and ready to support Ontario’s thriving genomics community.

Please join us in wishing Bettina all the very best in her new role and stay tuned for more information on Ontario Genomics’ interim leadership plan.

Ontario Genomics-CANSSI Ontario announce 2024 recipient of Postdoctoral Fellowship in Genome Data Science

CANSSI Ontario and Ontario Genomics have awarded a fellowship to support the work of an early-career investigator pursuing research in the areas of genomics and data science with an emphasis on genomic medicine, including, but not limited to, methodology, application, and translation of genomic prediction tools such as polygenic risk scores; human-computer interactions; or novel genomic computational approaches to therapeutic identification.

We are delighted to congratulate the recipient of this Fellowship:

Dustin Sokolowski, Department of Molecular Genetics, University Toronto
Supervisors: Drs. Jared Simpson (University of Toronto and Ontario Institute of Cancer Research) and Melissa Holmes (University of Toronto)
Project: Genome assembly and analysis of the African Mole-Rat family reveals the underpinnings of extreme adaptations related to aging, cancer resistance, and hypoxia tolerance.

Ontario Genomics-CANSSI Ontario Postdoctoral Fellowship in Genome Data Science – Award Recipient: Dustin Jonathan Sokolowski

Dustin Sokolowski is profiled, along with information about his background, research, and proposed research projects here: Dustin Sokolowski

Ontario Genomics is proud to be a partner with CANSSI Ontario to help build research capacity in data science and genomics in Ontario.


The Ontario Genomics-CANSSI Ontario Postdoctoral Fellowship in Genome Data Science was created to support research projects and attract, retain, and nurture Highly Qualified Personnel (HQP) combining genomics and data science within Ontario. These HQPs possess a diverse skill set spanning statistics, computational biology, bioinformatics, computer science, epidemiology, engineering, genetics, or mathematics – all indispensable in tackling the complex challenges of our times.

Established in 2000, Ontario Genomics is a not-for-profit organization leading the application of genomics-based solutions to drive economic growth, improved quality of life, and global leadership for Ontario. As part of its strategic vision, Ontario Genomics is dedicated to supporting the development of educational resources that demonstrate how genomics plays a vital role to address key challenges in our society. Ontario Genomics also plays a role in advancing genomics projects and programs across the province by supporting the development of proposals, helping researchers access diverse funding sources, and finding the right industry partners to take this research out of the lab to apply it to the world’s most pressing challenges. Since its inception, Ontario Genomics has raised more than $1.4 billion for genomics applied research in Ontario and directly supported more than 11,00 trainees and jobs.

CANSSI Ontario is the Ontario Regional Centre of the Canadian Statistical Sciences Institute (CANSSI). Its goal is to strengthen and enhance research and training in data science by developing programs that promote interdisciplinary research and enable multidisciplinary collaboration.

CHEO and SickKids join forces to lead the way in data sharing

The All for One Precision Health Partnership is creating a national database for rare diseases

Imagine being very sick, with daily impacts on your wellbeing, family, education and community, but not knowing the cause. This is the experience of many Canadians with a rare genetic disease. Rare genetic diseases affect nearly one million Canadians, and despite extensive clinical testing and investigation, over half of them don’t have a diagnosis.

Over the past four years, clinicians, scientists and researchers in six provinces (British Columbia, Alberta, Manitoba, Ontario, Quebec and Nova Scotia) have been working to evaluate and implement an important clinical genetic test, called genome-wide sequencing (GWS), to help with timely diagnoses for families with rare genetic diseases. The program, called the All for One Precision Health Partnership, began in 2019 and was launched in 2022 with the support of Genome Canada, six regional Genome Centres, and in partnership with provincial governments and end users. Preliminary outcomes show the successful integration of genome-wide sequencing into clinical care can provide a diagnosis for up to 30 per cent of tested families.

The leaders of the six provincial projects are working to the premise that the number of diagnoses, time to diagnosis and equity of access will be improved if diagnostic laboratories providing genome-wide sequencing work together and share data. As part of All for One, a first-of-its-kind national program is being developed to enable secure data sharing between Canadian diagnostic laboratories. This All for One ‘Clinical Genomics Network’ will mean that when a rare disease family receives genome-wide sequencing in one province, their test information may very well help to diagnose a family in another.

The diagnostic laboratories at CHEO and the Hospital for Sick Children (SickKids) are pioneering the sharing of genome-wide sequencing data via the Clinical Genomics Network, contributing data from over 4,000 rare disease patients and family members. This secure data sharing will increase health care providers’ ability to provide answers to families and may decrease their anxious wait for a diagnosis. As more individuals are sequenced and more diagnostic laboratories join the Clinical Genomics Network in the coming months and years, the impact of this network will be amplified across Canada.

“Individually, no single institution or health region can sequence enough people’s DNA to build a comprehensive database to support high-quality interpretation of clinical genome-wide sequencing. This is particularly true for equity-deserving populations who are also underrepresented in current genomic reference datasets. The All for One Precision Health Partnership is changing that and providing a blueprint for other countries around the world.”Dr. Kym Boycott, All for One data sharing lead and Clinical Geneticist at CHEO, and Senior Scientist at the CHEO Research Institute.

“All For One is a ground-breaking portfolio of projects focused on improving health systems locally and regionally, but also contributing to national data sets to accelerate the quality of care for all Canadians. Coordinating and combining our efforts across hospitals, regions and provinces will ensure all patients across Canada are able to receive world-class, cost-effective care.”Dr. Rob Annan, President and CEO of Genome Canada.

For more information on the All for One Precision Health Partnership, go to:

All for One - Canada's precision health partnership


High-Tech Innovation is Coming to Ontario’s Health Care System

Two Ontario Genomics projects are getting patients quicker diagnosis and matched with life-saving clinical trials

Eight health and food security projects across the country are getting $41 million in funding from a group of organizations including, Ontario Genomics, Innovation, Science and Economic Development Canada and Genome Canada. The goal? To use the power of DNA technology to fuel groundbreaking advancements for real-world use.

It’s estimated 1 in 15 children is born with a rare genetic disease. Researchers at London Health Sciences Centre have developed EpiSign, an algorithm that diagnoses certain neurodevelopmental disorders in children not identified by other testing. This tool ends the long and frustrating emotional and financial challenge for families by getting their kids the support they need. In partnership with biotech company Illumina Inc., this $7.4 million project aims to expand the technology to quickly detect rare genetic diseases and other health issues in children.

Researchers at the Princess Margaret Cancer Centre in Toronto have developed an open-source software platform to match patients to clinical trials. This $1.8 million project in partnership with the Ontario Institute for Cancer Research and the Canadian Cancer Clinical Trials Network, will dramatically improve the matching of cancer patients with state-of-the-art precision therapies while giving researchers valuable information to help more patients in the future. This technology could expand to include clinical trial networks for other diseases.

Dr. Bettina Hamelin, President and CEO of Ontario Genomics, says, “Genomics is all about DNA, which shapes our lives and is fuelling exciting health care advances for patients of all ages. This is yet another step towards improved quality of life for so many Canadians made possible by investing in ground-breaking innovation.

Genome Canada President and CEO Dr. Rob Annan, says, “Together, we will help save and improve the lives of Canadians and create solutions to complex health, environmental and food security challenges.”

Ontario Genomics is a non-profit organization funded by the Government of Ontario and other partners. Since 2000, we’ve been involved with cutting-edge science to find homegrown solutions to challenges the world faces like climate change, food insecurity and in healthcare. Find out more at


Media Contact
Maggie Blood
Innovation Communications and Public Affairs Manager

Ontario Genomics Welcomes New Board Members

Ontario Genomics' New Board Members

Ontario Genomics is delighted to announce the appointments of Anne Woods and Derek Newton to our Board of Directors. To further expand the board’s perspective, we created a voting student representative role and are thrilled that Jehoshua Sharma, PhD Candidate at the University of Guelph, has transitioned from observer to a full voting member. These three individuals bring a wealth of insight, experience, and expertise in areas crucial to our organization and will contribute to achieving the strategic vision of Ontario Genomics.

Ontario Genomics is also excited to announce Ann Marie Vaughan will take on the role of Chair of the Board, and Colin Kelleher the role of vice-chair. We thank Deb Stark for her service in the role of Chair over the last four years. Her contributions were vital in advancing Ontario Genomics’ board governance and leading the board’s oversight and input in the development of Ontario Genomics’ 5-year strategic vision and plan. We appreciate her ongoing commitment to the board in the role of Past Chair.

Ontario Genomics is also thankful to retiring board members for their years of deep commitment to our board. Stephen Cummings served on our board for nine years and played an invaluable role in chairing Ontario Genomics’ Audit Committee and ensuring good governance of Ontario Genomics’ finances. Charmaine Dean served on our board for three years and provided important insights into the perspectives of Ontario’s researchers and entrepreneurs. Alison Sunstrum’s astute private sector outlook sharpened our vision for company support over the past year. Thank you for your contributions to OG!

To learn more about the new members and additional changes to our Board please visit our Governance page.

Anne Woods

Anne Woods is the Managing Director of Life Sciences & Healthcare at RBCx where she leads the banks efforts in the sector across Canada. Born and raised in Toronto, Anne brings over 25 years of experience in life sciences and capital markets, with 15 years of experience within pharma and biotech. Prior to RBCx, Anne launched and led the Life Sciences and Healthcare practice in Canada for Silicon Valley Bank. Read more about Anne Woods

Derek Newton

Derek Newton is the Assistant Vice-President, Innovation, Partnerships, and Entrepreneurship at The University of Toronto (U of T). He supports the university’s bold innovation agenda towards fostering the next generation of Canadian entrepreneurs, developing successful corporate research partnerships, and managing the IP portfolio of the university. Read more about Derek Newton

Jehoshua Sharma

Jehoshua Sharma is a PhD student from Trinidad and Tobago, currently at the University of Guelph in Ontario. He is studying the fungal pathogen Candida albicans in the lab of Dr. Rebecca Shapiro. He is also developing novel CRISPR-Cas variants to expand the current genetic manipulation toolbox for fungal pathogens to study the functional genomics of drug resistant isolates. For his work in the Shapiro lab he has won the ‘CBS, Best Paper’ award for his CRISPRi system, the International Doctoral Scholarship and multiple grants. Read more about Jehoshua Sharma