The founder of 123Genetix, Dr. Wayne Danter, explains why he started a social enterprise focused on empowering rare disease research:
My personal journey into rare diseases research began during previous research into p53, its role as a critical tumor suppressor in most cancers, and specifically its role in a rare germ cell disorder known as Li-Fraumeni Syndrome (LFS). Most people with LFS develop benign and malignant tumors in childhood and the risk continues to increase with age. Unfortunately, the tumors are difficult to treat, tend to recur and often shorten the lives of those affected.
About two years ago I had the good fortune to be invited to a rare diseases conference in California sponsored by the Global Genes organization. It was an impressive event with both heartwarming and tragic stories about individuals, families and loved ones living with rare diseases. I was struck by the strength and courage of all those involved, often in the face of severely limited resources and lack of a basic understanding of the disease process.
The obvious global unmet medical need plus my experience in medicine, pharmacology and systems biology lead directly to the creation of 123Genetix, a new social enterprise for empowering rare disease researchers.
It is the goal of 123Genetix to provide advanced computer simulations of many rare diseases, free of charge to not-for-profit researchers. These advanced models should empower researchers and lead to research that otherwise might not be possible.
Read about our rare disease computer simulation technology in the clinical spotlight of the spring edition of Rare Revolution Magazine.
The list of sciences that make extensive use of computer simulations has grown over the years to include astrophysics, particle physics, materials science, engineering, climate science, evolutionary biology, ecology, sociology, and many others, including medicine.
It is now possible to test new drugs in “virtual humans” through advanced computer simulations. Today there is an incredible abundance of data that allows molecular systems to be modelled at an extraordinary level of detail. This enables us to understand the underlying biological systems better than ever before. Computer models representing human biology can show higher accuracy than animal testing models in predicting adverse drug effects, including toxicity. This improved accuracy (in addition to saving the animals from experimentation) can also lower the risk for patients during clinical trials and speed up the development of medicines for patients in urgent need.
At 123Genetix, we have developed a computer simulation platform targeting rare diseases specifically. Why rare diseases? Well for starters, about 10% of North Americans have a rare disease and more than half of those affected by rare diseases are children. Sadly, less than 50% of currently recognized rare diseases have organizations to advocate on behalf of patients and rare disease research.
Compounding the problem, pharmaceutical and biotechnology companies are often reluctant to fund rare diseases research because of the perceived poor economics associated with the small target populations.
Rare disease research is hindered by severely limited resources. We plan on doing something about this, but we need your help.
Using elements of artificial intelligence, we are creating models of rare disease biology that can discover and identify patterns and relationships from complex datasets, and even effectively predict future outcomes. These models are designed to empower medical researchers to discover potential new research directions that may identify disease specific biomarkers that can lead to new and effective treatments for several rare diseases. Our first model will be for Rett Syndrome. We have already begun developing the model and we plan on providing it to a not-for-profit research organization free of charge. To do so, we need your help.
We're currently running a crowdfunding campaign on Indiegogo to raise funds to allow us to continue our work on our first model. We want to make a difference, and we hope you do too.
About our blog
We intend to use this space to help you get to know 123Genetix, our team and our mission, as well as to create more awareness for rare diseases and the limitations their researchers face.