Varient

There are approximately 400 million people living with 10,867 rare diseases. Rare disease diagnosis is ahead of rare disease treatment, as we are still in the early days of personalized medicine, and >95% of rare diseases have no standard treatments. Symptom management is crucial for rare patients to improve health and quality-of-life, as well as to avoid incurring increased disability or death. However, no centralized database exists to keep track of what's working, and what's not, for each rare disease and variant. This leaves families trying drug after drug, off label, looking for something that works, hoping it doesn’t make their symptoms worse. 

Rare variants account for the entire variability in drug response more than half the time. What this means is, for many single-gene-causing diseases, the medications that work for one patient will work for another as well.

In the form of an app, we collect volunteered genetic reports, demographic information, and ask rare patients which medications work to control the symptoms of their rare disease, as well as those which are ineffective or harmful for their disease. We share the information about effective and ineffective medications back anonymously within each rare disease community. Our users can access this data for free. This will create the world’s largest database of drug-genetic information. It’s an incredibly valuable repository for pharmaceutical companies as well to accelerate drug development for these populations.

There are no standard treatments for most rare monogenetic diseases and no central pharmacogenetics database for pathogenic variants. We accelerate patients' journey to effective symptom management by crowdsourcing effective treatments. This prevents incurrence of disability and death within these populations. We also provide academia and pharma with the data they need to accelerate over $130B in drug development annually. We help our users manage their symptoms while we accelerate their path to cures.

During my PhD, I found that the rare disease communities we worked closely with were trying to keep track of effective medications using excel sheets. However, this type of data requires a software solution - those sheets become very complicated very fast. Once communities grew beyond a few, they were abandoned. As a result, I saw many instances of patients with the exact same variants, with vastly different qualities-of-life because some were able to manage their symptoms early on and some still hadn't found their drug. In one extreme case, this was the difference between a child starting kindergarten in a regular class and developing typically and a child dying. I knew we had to do something to help these families, so I engaged the parents of several different genetic disease groups to help me design this platform.

This data isn't just needed for families. We drug development scientists need this kind of natural history data to inform our research. This kind of data allows us to decides on drug mechanisms of action, and drug types (small molecule, or gene therapy?). It also helps pharmaceutical companies make strategic decisions. (Should we run this clinical trial in the USA, or Germany?)

Lastly, we can connect patients to clinical trials in a world where pharmaceutical companies have great difficulty recruiting rare trial participants.

My 6 engineers not only come from one of the best comp sci schools in the world, they are also well-educated on things like global privacy legislation compliance, data custody best practices, and grad-school-level genetics. They come from startups, but also big companies like Huawei and Amazon. Together, we’ve taken this platform from concept to beta launch.

In order to scale the app to our first few thousand users and to onboard our first pharma company client, we need to afford our webhosting services, valuable professional services, and become SOC2 compliant.

Existing pharmacogenetics data companies mine electronic medical records to obtain binary outcomes on whether patients are currently prescribed a given medication. This fails to capture important nuances to reasons for discontinuation, such as efficacy but adverse events, not efficacious, or nocuous. This nuance is helpful for both patients researching potential novel treatment pathways, as well as for rare disease drug R&D. Furthermore, current databases/softwares do not share patient-reported outcomes within rare communities. This user incentive leads to social-network-like growth and rapid adaption (see StuffThatWorks, a platform for chronic environmentally-caused diseases, which scaled to 1M users within a year).

We expect this to dramatically shorten rare patients' journeys to effective symptom management, regardless of where they are located in the world, leading to less disability and death caused by unmanaged symptoms. Our backend Trusted Research Platform is an economical option for pharmaceutical companies looking for R&D insights and a clinical trial participant pipeline for drugs under investigation. 

We also believe that the data we collect will lead to indication expansion and repurposement of existing drugs. 

We hope to onboard 5M users from thousands of communities over the next 5 years. We will accomplish this through word-of-mouth, patient advocacy networking, developing relationships with rare patient foundations, being present at rare disease conferences, and social media campaigns.

We hope to provide 20 pharmaceutical companies with data access through our Trusted Research Platform in the next 5 years. We will accomplish this by achieving SOC2 compliance and scaling our user growth.

Good health and well-being / Industry, innovation: We measure our growth through the number of users, communities, and datapoints on our platform, as well as how often users visit or update app data. Currently, we have 650+ users waitlisted for our app from >300 communities. We track the number of academic collaborations (currently 2). We will also track the number of pharma clients we onboard as well as their specific disease interests, and require that they report novel drugs under investigation as a result of innovation driven by our data.

Our surveys indicate that 70% of rare disease patients have their medication regimens changed as a result of a 1:1 conversation with another patient. Thus, we expect that our data-driven solution adds power and validity to the "gold standard" process of symptom management exploration.

The reason that medication efficacy tends to correlate among rare patient populations is that rare variants account for the entire variability in drug response more than half the time (Sunderberg et al, 2018).

Our mobile app collects genetic reports and conducts natural history questionnaires on effective medications for a person's genetic variant. It then sorts people into genetic communities and shares user-reported medication efficacy information.

Our proprietary dataset will be used to build medication efficacy algorithms across the human genome, as well as to build a diagnostic tool for patients with variants of unknown significance. 

Our work aims to improve the quality of live of persons living with disabilities regardless of race and socioeconomic status, and thus, incorporating a diverse and equal workplace is paramount to our values. Our CEO is a woman and our team is 14% white.

Work we have undertaken in the first 18 months has been unpaid, and thus, our founders recognize their inherent privilege to dedicate their time and effort to an unfunded startup. In the coming months, our team will diversify greatly in terms of background, genders, abilities, nationalities, and races. We see direct parallels in the people we help and those who will represent us as a company.  After all, if we want to help those living with rare diseases from around the world, these individuals must have representatives within our company, both as employees and board members.

People with rare diseases have to independently trial and error off label medicines, leading to disease progression and delays finding effective treatment. Accessing crowdsourced patient-reported outcomes is free for verified users living with a rare disease (within their own communities). 

People with rare diseases don't necessarily know about clinical trials for RD treatments. Users are notified about clinical trials for their rare disease, for free on our platform.

Costs of orphan drug development are $291 million each. Pharma has low financial incentive to develop drugs for RDs because of small worldwide incidence for these diseases. We offer data which provides insights into drug development pipeline leading to fewer failed clinical trials. For pharmaceutical companies, data insights are priced at $60/user (each user's data has a value of $60 - eg, 50K users' data would be priced to a $3M contract). 

Clinical trials for rare disease drugs take ~12 years each, 2x as long as nonorphan drugs, partially due to lack of access to patients. Varient facilitates faster conductance of clinical trials and de-risks the uncertainty of their being filled. Clinical trial participant liaising costs depend on the use case, but are priced at $3K-$100K. 

Please see our financial model https://docs.google.com/spread...

We have raised $70K USD (from the University of Toronto and Forum VC) total so far and have a burn rate of $1.5K/month in advance of rapid user scaling.