mitrichr, thank you for taking the time to respond.

My son has got polyostotic fibrous dysplasia/McCune Albrights syndrome. He is unfortunately very severely affected with widespread skeletal disease. Mentally he is like any other kid but he brakes his bones for literally nothing. I did not mention the name of his disease since this petition/idea for change is targeted at rare disease in general. And although my sons disease causes us a lot of pain and sadness in our daily life, there are many other diseases that are a lot worse.

From change.org:

" The rare disease patient is the orphan of health care systems.

There are close to 30 million people in the USA with rare diseases (a disease affecting fewer than 200,000 people). There are close to 100 million caregivers for the millions of kids and grown-ups who have rare diseases. There are close to 7000 rare diseases. For more than 15 million people with rare diseases there is no treatment for their disease. Research is scarce. Many many people have no support group or foundation fighting for them.

It is time to make rare disease a priority. The rare disease community needs a registry of registries - a registry that would include information on many rare diseases. Anonymous ("de-identified") information could be searched ("queried") for disease pathways, disease targets, effective treatments, overlapping health issues, etc.

The time is now for better treatments and cure through a big silo-busting knowledge share -- for rare. "

That is the petition/idea that I encourage you all to vote for. I know through own experience how difficult it can be to find experienced doctors and what its like to deal with doctors that mean very well but really have no idea what they are talking about. Many people with rare diseases are cared for by doctors that have very limited experience of that particular disease, so we are all quinneapigs to some extent. The information and the experience that is out there needs to be compiled and pooled together for easy access, this would aid the research on these diseases too.

I agree with you that the point is scientific inquiry with goals, and for my son I have indeed approached a research group i Maryland conducting research on his disease (as far as I know they are the only ones in the US) and suggested they could use WCG with a similar setup as the Influenza or dengue drug project. They wrote back saying they found the idea very interesting but unfortunately nothing more happened. I believe a big problem is research funding. And as far as pharmaceutical companies are concerned there are more money to be made developing drugs for very common diseases like cardiovascular diseases etc that marginally prolongs the life of the elderly, than to profoundly change the life of children and adults with more rare diseases (who still are a lot of people). For my son, its likely an inhibitor of the mutant Gs-alpha protein would be an effective drug, but where do you get the money to develop such a drug?

You said, "I believe a big problem is research funding. "

We who are in this work, at our own expense, which is de minimus, we save laboratory scientists millions of dollars by doing what we do. Some project gets going, after a time they are able to hand off some work to us. Then our results go into making up their findings. We cost them nothing.

Take that to the group in Maryland, maybe something will happen.

I have grand children, all with asthma. Bad asthma. I constantly keep that in mind when I read scientific journals. There is a sticky note that never leaves my desk.

I wish you all the good fortune you can possibly have.

I have a rare disorder (1 new case/100,000 per year). That is one of the reasons I feel good about donating computer time to WCG. I believe that many of the rare disorders have very complicated causes. Combinations of genetics, proteins, viruses and environmental factors that make it hard to connect all the dots. In the past the tools needed to connect the dots did not exist for some of these disorders. I believe that what we see happening with WCG is the development of the type of tools needed to solve these very complex problems. We are not just helping to solve cancer, MD, etc.. We are helping to research ways of solving problems that were not solvable before.

I would also like to see research focused on the rare disorders because I believe they are great scientific problems. Take the rare disorder achalasia as an example. If it were completely understood there would be knowledge of the immune system, nerves, mast cells, and interstitial cells of Cajal that does not exist today. One can only imagine what impact that knowledge could have on other medical conditions.

For some interesting links about achalasia see:
http://www.zotero.org/groups/achalasia_atheneum