The numbers game...

Behind one of world's leading research institutes in the world - the Salk, there lies the vastness of the Pacific ocean. But between this seemingly never-ending expanse of the pacific and this incubator for great scientific research - there lie the memories a 16 year old.

A 16 year old, fondly remembered by her parents and memorialized in the form of a bench overlooking a grassy lawn and above the muddy-brown cliffs from where the paragliders take off into the heady ocean winds. She was "Drawn to the ocean and kissed by the sun, radiant and exuberant, always smiling." She was Morgan and she "lives on in their hearts forever".

I don't know Morgan or her story but even as I sit on that bench, I feel spooked and haunted. Not by ghosts and demons but by the questions whose answers elude me and leave me wondering. What could cause a 16 year old to die? Why couldn't we - researchers at a premier research institute - do anything to help? What can we do now to change things? 

The future of science is probably brewing in some test tube or being envisioned in some computer screen somewhere right behind this bench but still, here she was, a possible victim of fate.

Science to me was all about solving puzzles and answering questions.
Therapy, disease, cure, application, translational research - to me these were all the price we pay for our scientific freedom. The debt we owe to the society for their generosity. But, I have never been keen on them or appreciative of the present focus of the entire scientific community on them.

Yes - it is probably petty and selfish! But to me, science is all about the utopian search of mankind to understand the world. It is my pursuit for the truth, for understanding the world as it exists. In my mind, it is the engineers who should tweak things and make them more suited for application. We, scientists, should be allowed to just think and dream, and test and prove.

How naive was I? 

Even a purist like me is affected when I sat by the memories of that 16 year old.

Could we have done something to change things for her...? She could have died of cancer and there are many of us working on that problem!! But what if it was not a rampant disease like cancer that had the world in its grasp? What if it was a rare disease - a disease that affected one in every thousand or ten thousand or even a million? Are there others like her who can be helped? If not, does it matter that she was alone?

They say, she was a happy child who loved the ocean - just like this friend of mine. Isn't that enough? How many patients does one need for a problem to be worked on? Will we ever be able to help such children and patients? These one of a kind, rare patients. Or will the scientists, the industry and the granting agencies ultimately succumb to the burden of numbers and the finances? 

Research is usually justified by many parameters: the numbers benefited from it, the feasibility, the cost and benefit, the applicability and the potential. Ten or twenty vs. the hundred or thousands is a seemingly important question when looking at the bigger picture. But, when I look at this tiny place under the sun, I wonder, if it should? Is a small benefit to the millions more important, feasible and lucrative than a big benefit to a small group of people? 

Private companies and entrepreneurs think like that. Should we, too? For them one time cures are less profitable than long term treatments. For them diseases afflicting the masses are more profitable than elusive diseases affecting a few. But, why is research on these rare diseases also limited to small groups of people...? Why are there a few laboratories across the world working on these rare diseases and disorders affecting a precious few? It has to do with the available funding and the number of scientists interested... 

I find that most people fail to see the bigger picture here.

Research in mice is driven by our ability to knock-out and over-express select genes i.e. you find out what someone does by either removing them or putting in more of them. This is how we study what individual genes in our genomes too. But this can obviously not be done in humans and so we resort to the next best option of doing it in mice. But then how can we expect to understand the function of the 25,000 odd genes that are coded for in the human genome?? Most people just hope that the information from the other model systems will help. But, we all know that despite a lot of broad similarities between mice and men, there are many critical differences. These rare patients can potentially fill in that gap providing us vital information about these rare mutation and its effects. Knowing the mutations that they have and the disease symptoms they show can be vital to understanding the role of the affected gene(s) in the normal individuals.

Isn't that incentive enough for big pharma companies, scientists and granting agencies to pursue such rare diseases? Rare diseases that may affect these 16 year olds bubbling with life but stripping them of life and all the joys that come with it.

Thankfully, as the costs for genome sequencing have come down - more and more groups have been applying these and other approaches to study these individual, rare, one-of-a-kind patients. That is certainly hopeful but we are still a long way away.

Hopefully, the winds will change.

References: 

http://phenomena.nationalgeographic.com/2013/03/11/we-gained-hope-the-story-of-lilly-grossmans-genome/

http://www.nytimes.com/2013/02/19/health/dna-analysis-more-accessible-than-ever-opens-new-doors.html?pagewanted=all&_r=0

http://news.wustl.edu/news/pages/23465.aspx

http://www.jsonline.com/features/health/111224104.html