Rare Disease Report

Rare Disease Day - Time to Think Bigger

FEBRUARY 27, 2016
Starting on February 29th, I will join many scientists, clinicians, patient advocates, parents and patients will be attending the 12th World Symposium in San Diego focused on the lysosomal storage diseases: aspartylglucosaminuria; Batten disease; cholesteryl ester storage disease; cystinosis; Danon disease; Fabry disease; fucosidosis; galactosialidosis types I, II & III; Gaucher disease types I, II & III; GM1 gangliosidosis (infantile, juvenile, adult-onset); Krabbe disease; alpha-mannosidosis types I & II; beta-mannosidosis; metachromatic leukodystrophy; mucolipidosis types II, III, & IV; mucopolysaccharidosis types I, II, III, IV, and VI (Hurler, Hurler–Scheie, and Scheie; Hunter, Sanfilippo, Morquio, and Maroteaux–Lamy syndromes, respectively); neuronal ceroid lipofuscinosis (infantile, late infantile, juvenile, adult); Niemann–Pick disease; Pompe disease; Sandhoff disease (infantile, juvenile); Schindler disease types I & II; sialidosis types I & II; Tay-Sachs disease (infantile, juvenile and late-onset); Wolman disease.
Had you ever heard of these? Probably one or two like Batten disease and Gaucher. Up until 5 years ago I had not either. Now having worked with scientists and patient advocates working on Sanfilippo Syndrome treatments I have a pretty good insight into how rare this particular disease is and how desperate these children need treatments.
And yet drug companies and big biotechs are not rushing in to treat the very rare forms like Sanfilippo Syndrome IIIC and IIID. As I have explained before, the only incentive we have to bring in outside funding is the potential to obtain a pediatric priority review voucher. As a parent founded company our priority is to develop treatments for the children and young adults in these families. We are not beholden to shareholders, VC or angels (yet). Our research to date has been funded entirely by the NINDS (thank you) and the researchers in turn have been funded by many of the foundations these families have also formed.

We are not alone

Our example is likely multiplied across all the lysosomal storages. Then let us scale it up to the many thousands of other rare diseases out there too. It’s like we are looking out into a galaxy of rare diseases where a tiny fraction have treatments.
We need more funding opportunities and outreach to get researchers to work on these diseases. We need more incentives to bring in small biotechs and the entrepreneurial families that want to cure their children’s diseases. We need to be teaching these families how to do it.
We are living in a golden age of technology where we can do things that would have taken years just a decade ago, now they can be done in minutes (like sequence a genome). We can make ‘knock out’ and ‘knock in’ animal models of diseases remarkably quickly with CRISPR.
We can dream about a day when ‘one day every rare disease has a treatment’! Yes I did really say that – well the optimist in me said that. Why should it be an idle dream. Each rare disease family I have met has tried to bootstrap on previous generations of rare disease families. They have done things smartly and nimbly and stretched every dollar. So why can’t we scale what we are doing in pockets here and there – say a gene therapy for this disease, an enzyme replacement therapy for that disease, a chaperone therapy for another and literally reap the benefit of economics of scale by working on many diseases.

The technology is there - we just have to use it

Why aren’t we (companies, academics, families, foundations etc) collaborating more instead of being silos? If you have to make and purify one protein why can’t we have factories that can crank out hundreds of them ready for use in therapies? We can make thousands of molecules quickly in a combinatorial fashion, why not develop proteins in the same way? For that matter if we can find chaperones for one disease why are we not looking for chaperones for 1000’s of diseases using the power of computers like the IBM World Community Grid where this could be done for free using all the idle computers around the globe. They could be docking millions of molecules (potential chaperones that could help the protein fold and restore some activity) literally while you sleep and your computer sits idle. While there is still a way from an idea in a computer to a drug, its all about how we could tackle diseases in parallel rather than in series. As the saying goes – we have the technologies – we just have to use them.

Think bigger

The 29th of February is rare disease day and thousands of us around the world will be raising awareness of rare diseases. If I had my say we need to raise awareness of what is possible. Treatments can be developed quickly and relatively cheaply if we put our minds to it and if there are incentives to encourage outside investors. There are many smart scientists, clinicians and entrepreneurs out there that have done terrific work for rare diseases bringing drugs to the market. But it is time to think bigger instead of waiting for someone to put them in a company pipeline.

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