Partnering for Cures 2012 – one innovator presentation at a time

Last year, attending the Partnering for Cures meeting had a huge impact on me. I did not realize it at the time, but one 1:1 meeting with Jill Wood from Jonah’s Just begun made the meeting. This year we were back and we were selected to talk about everthing we had done on rare diseases in the intervening year at Partnering for Cures 2012.

I had never given a dual presentation, so this was a new experience. We covered JJB, Phoenix Nest and the Open Drug Discovery Teams App. We tried to engage the audience at the end and stimulated a good amount of discussion that followed us out into the hallway. So lets hope some of these connections lead to more progress. We have one more day of the meeting tomorrow. So far the meeting again has been enormously valuable because of the people attending. I am still not a big fan of the bigger plenary type panel discussions with no audience participation. But the 1:1 and innovator sessions are a hit.

In order to be selected to give a talk we submitted a pretty extensive application. We think this may be of interest to others so here it is typos and all..Apologies in advance if it appears we are selling ourselves but that was the whole idea. My role has been voluntary in all of this and I would encourage others to connect to patient/ parent advocates because they are incredibly energetic and driven to fine the cures.

Describe your collaboration and it’s objectives.

Jonah’s Just Begun (JJB) is a 501(c)3 founded in 2010. Our mission is to find a treatment for Sanfilippo Syndrome or MPSIIIC. Sanfilippo Syndrome is caused by a mutation which stops the production of an enzyme heparan sulfate acetyl CoA: a-glucosaminide N-acetyltransferase, (HGSNAT) responsible for degradation of heparan sulfate, a sugar substrate. This substrate is then stored in the lysosome. The accumulation of this sugar causes progressive and severe neurological deterioration early in life. JJB has built collaborations with all parties interested in finding a treatment for MPSIIIC including: parents, scientists, clinicians, and other rare disease organizations. Our objectives are to fund research to discover treatments.

Phoenix Nest (PN) is a Virtual Biotech formed in 2012. PN will take the treatment that JJB initiated and fund to clinical trial. PN encompass all of JJB’s collaborations adding to it a professional management team to develop financial partnerships and entice pharma and government institutions to become involved.

Collaborations in Chemistry (CIC) uses computational approaches for drug discovery and is applying these tools to rare disease drug repurposing. We have been involved in a number of collaborations with academics, not for profits and pharmaceuticals companies through other client projects. In addition we have developed a mobile app with Alex Clark at Mobile Molecular Informatics (MMI), called Open Drug Discovery Teams (ODDT). This is primarily intended as a research topic aggregator of predominantly open science data collected from various sources on the internet. It exists to facilitate interdisciplinary teamwork, delivering access to information that is highly relevant. Research topics include rare and neglected diseases including Sanfilippo Syndrome. The app enables open sharing of molecule structures and bioactivity data.

Our combined objectives are to raise awareness about Sanfilippo Syndrome research, make the research accessible to anyone and encourage researchers outside of the community to get involved. A major goal is to quote Alex Mackenzie et al., who recently suggested “there is an opportunity for scientists to work more collaboratively and come up with generalized approaches to drug discovery that leverage informatics” (http://www.ojrd.com/content/7/1/39/abstract).

JJB and CIC met at Partnering for Cures 2011 and formed PN. CIC was inspired by JJB to develop ODDT which has a broad utility across rare diseases.

How is it transformative?

Therapeutics that are commercialized today are often discovered in one organization and developed in another.  The investment community and pharmaceutical industry have moved their efforts downstream, focusing most resources on later-stage drug development.  This has created an urgent need to move new discoveries made by academia and startup companies forward and at the same time find funding for them. Many of the technologies and virtual approaches to drug discovery suggest that a great deal can be done by a very focused small team (with minimal experience) leveraging domain experts.

JJB and PN were founded by Sanfilippo parents. Our collaborations are completely transparent, we have the best intentions at heart- to save our children. We don’t have PhD’s or MBA’s, we’re driven by the need to save our children. Frankly, parents can go places and initiate honest and pointed conversations that many research and clinical professionals probably are unable to. We can bring competitors together that might not otherwise collaborate. One parent can contact another parent without breaching any patient-doctor confidentiality or code of conduct. Of course we do not have to answer to share-holders or think about returning a profit.

Our ability to create a unique consortium of clinicians, parents and scientists is a perfect symbiotic relationship. The parents, scientists and clinicians all are driven together by a mutual need for each other and one group feeds off the next. However, a group like this needs someone who can talk the language of all parties involved, who can fill in the gaps and keep the wheels greased.

CIC and the development of a mobile app like ODDT, enables the connectivity between all collaborating parties and can be applied to other rare diseases. CIC has a drug discovery and informatics background which provides a high level understanding and enables us to use technologies to fill some of the gaps. Being aware of all of JJB and PN science, CIC can also help the researchers write grants for additional funding. Making the connections between research projects and connecting groups together is critical. Saving us time and money but more importantly the collaborations make for stronger science.

Who are the key partners/players?

Describe their respective roles:

In the test cases we would like to co-present at the PartneringForCures meeting, we would describe the work of JJB, PN and CIC.


Families– are in need of treatments ASAP, they are critical to raise funds to support the science.

Scientists– provide the treatments and need funding especially with the cutbacks in government funding.

Clinicians- A few expert clinicians follow the patient population, gathering data and documenting the disease. They provide feedback to parents and care to children. The clinicians will continue to play a major role in a clinical trial. Key clinicians also connect newly diagnosed patients to the parent advocate groups.

Advocate organizations: RDLA, advocating for change in public policy for the rare disease population. RARE-Global Jeans Network, providing parents with the resources to advocate and raise awareness. Partnering 4 Cures, help connect with professionals.

Scientific Advisory Board: Translate the science to the families. Offer expert opinion and advise. Advocate and network for our groups.

“Sister” Foundations: International foundations and American foundations have come together to support the same set of scientists. Together we have a much larger reach, locating more scientists reaching more families and raising awareness at a global level.


CEO: Jill Wood- the driving force

CSO: Sean Ekins- brings a background in drug discovery, computational approaches and scientific track record to the company. Focused on bringing in grants and coordinating the science.

Clinicians: JJB’s clinicians become the clinicians designing and executing the clinical trial.

Scientists: JJB’s consortium of scientists bring their treatment’s to PN for research and development.

Financial Partner: Helps finance the clinical trial and drug development.

Support Staff: Lawyer’s, MBA, CRO’s

Founders: – Jill Wood & Jeremy Weishaar (USA), Belen Zafra (Spain), Francine Vallino & Guilhain Higonnet (France), Raquel Marques & Antonio Vicente (Portugal). Nancy & Paul Burke (USA), Sue and Dennis Burlison (USA), Jason and Christi Ormeroid (USA) all have a child with MPSIIIC.


Sean Ekins brings a broader knowledge of drug discovery, rare disease research, and drug repurposing. He possess deep expertise in drug discovery informatics, software, and scientific collaborations. He co-developed ODDT specifically to assist groups like JJB and PN, connecting parents with the scientists and clinicians and sharing their data. He donates his time to JJB and PN.

How is the collaboration financed?

JJB: Fundraising is done by families and their supporters. We do not have a paid staff at this time.

PN: Grants will provide a direct way to fund innovative science, angel Investors and Venture Capitalists are sought.

CIC: With MMI we have provided ODDT for free on the iOS appstore, we have used IndieGoGo for fundraising for future feature development. We are developing a commercial version of the app called Drug Discovery Teams, which will be a closed version of ODDT to be licensed to pharmas etc.

What is your business model?

JJB: We are a grass-roots organization, run by volunteer’s, created to solely fund medical research. Fundraising through public events, private donations, grants and internet fundraising. 90% of proceeds fund the science, 10% to contractors and lawyer fee’s.

PN: Is a virtual Biotech founded out of necessity by multiple patient advocate groups from around the world. The pre-clinical science is being funded solely by our patient advocate organizations. Once we have a treatment ready to go to the clinic, Phoenix Nest will then partner with a venture capitalist. A partnership will provide funding for a clinical trial and drug manufacturing costs. For the short term our small management team is working pro-bono, writing NIH grants. Grant funding will go towards research that supports our disease focused science, with the added goal of creating novel IP for the company. We’re currently looking for an Angel Investor to provide funding for key management team salaries, IP lawyer, accounting fees etc.

CIC: performs consulting for pharmas, biotechs and consumer product companies. The collaboration with MMI is developing mobile apps for drug discovery and these will be available in app stores.

What are your key accomplishments?


  1. Locating and uniting families from around the World, giving parents hope and establishing our patient population.
  2. Finding Alexey Pshezhetsky (CHU Sainte-Justines Hospital, Canada), the scientist responsible for the discovery of the mutation causing MPSIIIC. Giving Alexey the motivation and funding to create the Worlds first ever MPSIIIC knock out mouse.
  3. Searching out the authors from virtually every Sanfilippo paper ever written. Bending their ears and letting them know JJB’s mission. Urging them to continue their work with Sanfilippo and identifying those with hypothesis.
  4. Brought three of these scientists and one expert Sanfilippo clinician to a patient population meeting in NY. Together our scientists and clinicians identified the three best potential treatment options. A. Get the enzyme back into the body. JJB created a contract for gene therapy, a joint project between academics, Alexey and Brian Bigger (University of Manchester). Assessment of the Efficacy of Long Term Intracerebral AAV-hHGSNAT Delivery in MPSIIIC mice. B. Lower the level of the Heparan Sulfate. This approach was already ongoing with Zacharon Pharmecuticals and several groups looking into the effects of Genistein. Our parent organizations are scraping together the funds for an additional genistein trial with Brian Bigger needs funding (<$1M). Furthermore, Andrea Ballabio (TIGEM) is funded from our sister foundation as an alternative. C. Fix the mutation. A less universal approach without the invasive ramifications of gene therapy. Alexey Pshezhetsky already looking at chaperone therapy for our missense mutations is funded by JJB and sister foundations. Our family interest prompted the Canadian Institute of Health to grant Alexey another $650,000 for the research. Daniel Grinberg, Alexey and our Portuguese group all had similar theories for excreting more enzyme out of our splice site and nonsense mutations. JJB funded Daniel Grinberg for this research, in collaboration with Alexey.

Today: We now have 5 different research projects in the works globally, taking advantage of one another’s expertise and resources.


We are a new virtual start up running very lean. Thanks to JJB’s ground work, the infrastructure is set, we have the patients ready and waiting, our team of scientists are working on our aims and our clinicians are prepared to go to trial when we are.


We are helping PN with a second SBIR grant application in a year. Our key accomplishment is launching ODDT.

Can you demonstrate progress against your collaborations goals?

JJB’s intention was to lay the groundwork for a treatment for MPSIIIC. With the advice of our Scientific Advisory Board we set out to: establish a research team, identify our expert clinicians and build our patient population. We’ve brought all of these individuals together.

 The scientists: We have created our ‘dream team’ of collaborative scientists, leaders in the field of lysosomal storage diseases. Our team identified the most feasible treatment options for MPSIIIC and now all three of our research focuses are underway, plus supporting academic research.

 Our clinicians: Elsa Shapiro, Maria Escolar, Simon Jones and Bob Steiner are experts in lysosomal storage diseases and are ready and willing to help us anyway they can, be it conducting our Natural History Study or designing and conducting a clinical trial or just advising us.

The families: Are gathering in strength and in numbers, for the first time our families have hope. Our work and the support of our clinicians and scientists have given them this hope. In return our families are doing what they can to raise funds for continued research. They’re reaching out and raising awareness for the diseases.

 Patient advocate groups: The Rare Disease Legislative Advocate (RDLA) has helped the patient advocate groups see the big picture. It’s not enough to fund and create a treatment, we need to be able to get them to clinical trial and approved by the FDA. JJB’s work with RDLA was instrumental in the adding and passing of language to the Prescription Drug User Fee Act V (PDUFA.)  The new language will help expedite approval of drugs for rare life threatening diseases.


Inspired by JJB, ODDT was launched in April 2012 for the iPhone and iPad and has since been used in an IndieGoGo crowdfunding campaign, presented numerous times at scientific meetings, was profiled in Genetic, Engineering and Biotechnology News (http://www.genengnews.com/insight-and-intelligenceand153/app-connects-rare-disease-researchers-to-data/77899637/?kwrd=Open Drug Discovery Teams), the focus of a publication (http://onlinelibrary.wiley.com/doi/10.1002/minf.201200034/pdf) and has expanded to include topics for Hunters syndrome, Giant Axonal Neuropathy and Global genes.

Just thirty months ago these collaborations did not exist, the research did not exist. Parents had little hope and were isolated. There was no mouse model. With JJB’s motivation and dedication all of that has changed, we have even inspired a mobile app!

 What are your goals/milestones for the next 12 months?

JJB: We want to start the Natural History Study for MPSIIIC. The primary investigator has been identified and a protocol designed. We just need the funding to get started. We would also like to create a spin off from JJB’s website for Sanfilippo Sud (France) and Sanfilippo Barcelona (Spain), linking our foundations together so we can more closely integrate our fundraising abilities. A goal is to becoming the international go to resource for MPSIIIC which will also help in laying the ground work for a global registry for the disease. We need to hire a full time employee or two to scale up the fundraising efforts. JJB intends to build and expand on our partnerships with other organizations like: RDLA, RARE-Global Jeans project by combining our efforts and raising awareness for all rare diseases. This will be facilitated by ODDT, empowering more advocates to fund, collaborate and initiate science.


We want to focus on writing and winning SBIR grants for our scientists and this will create IP for the company. We need to find an Angel Investor to cover our overhead and salaries. We need to remove roadblocks surrounding a gene therapy trial.

Beyond that?

Within five years PN will be in clinical trial with our first treatment option. We will have at least two more treatment’s in the pipeline. JJB will have grown substantially, employing a full time staff and being the focal point for global MPS research. We will be raising over a million dollars a year for medical research, branching out to funding science for other lysosomal storage diseases. Our model will have grown to include global rare disease awareness programs and events. We will empower all the global MPS families and urge scientists and clinicians involved to actively collaborate.

CIC: We will add more rare diseases to ODDT and move it onto other platforms, generate collaborative networks sharing data more widely.

How is your model relevant/scalable beyond your own disease category or research area? i.e. could aspects be replicated by others?

Everything accomplished with JJB and PN, has started out from a small home with just the use of the phone and the internet. All a rare-disease parent has to do is Google their disease of interest, go to PubMed (and now ODDT) and find other interested parties looking at the same or similar disease and reach out to them. Your geneticist is a good starting point, they can point you in the right direction and help you make contacts.  One thing leads to another and another, doors start opening, people start getting involved and eventually it comes together and gets organized. Jill at JJB and PN does not have a PhD but has enough knowledge and connections with researchers that you would be convinced she has. She now has lots of friends that do have PhD’s as well as lots of people willing to help. She has learnt you just have to put yourself out there, in their shoes so to speak and talk to them. Tell your story and use your resources. From interactions at Partnering for Cures in 2011 between JJB and CIC it lead to starting PN and then development of ODDT.

We are seeing more parents of children becoming bona fide world experts in the rare disease their children have as they then form foundations and companies to fund academics and companies to find cures for their diseases. We know many other parents are doing the same as JJB and PN. Bringing them altogether to share experiences would help everyone. ODDT could be the conduit to achieve this.Though we are far from covering all 7000 rare diseases we would like to see more community involvement so we can develop the app further. We are committed to migrating a large portion of computer aided drug design software to mobile devices, as we believe that the paradigm shift towards low-cost consumer-friendly apps is a way to revitalize the industry and help virtual pharmas like PN. We are building the infrastructure one app at a time, (each of which excels at a narrow task and provides an intuitive interface), enabling seamless communication with one another. These apps will become available to a much broader cross section of the community than traditional informatics software. The ODDT project is our flagship effort to bring together professional scientists, charitable foundations, and concerned citizen scientists in an open context, without institutional or geographic barriers.

What are you hoping to achieve as a result of presenting at partnering for cures?

JJB and PN: My peers ask me all the time how I do it.  This is how.  I’m here to show other parents of children with rare incurable diseases that it can be done.  A parent is a child’s best advocate and in the case of ultra rare pediatric diseases like Sanfilippo Syndrome, the parent is the only one that can start the ball rolling.  Nobody else is going to do it for us. If I can inspire another family to initiate the science, then we’d all be closer to cures.  We have to join forces; make our voices heard and show the powers that be how it’s done. If there are groups that are willing to fund our efforts we can show them how our approach is truly thrifty drug discovery research.

CIC: Jill sets an incredible example to all parents in similar positions, imagine being a fulltime parent and trying to find a cure for their child’s disease that does not currently exist and for which there is no guarantee one will ever exist. It is hard not to be inspired or won over by that, and want to immediately help. Face to face communication gets the message over well but there are social networks we can leverage to expand who hears our ‘voice’. Also, there has to be a better way to do rare disease research and much of the early work can be collaborative. We think that other groups can learn from what we have achieved in the last year of working together and leveraging mobile apps. We would like other groups to tell us how ODDT could help them. By combining all the rare disease efforts into one place it could avoid redundancy of research efforts and send a powerful message.


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  1. Sean says:

    Our talk at partnering for cures can be found here http://partneringforcures.org/2012/p4cprogram.taf?function=detail&EvID=3918&eventid=p4c11

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