Branchio-Oto-Renal Syndrome - The Cain Foundation

One area where some fund raising might be helpful is in the development of a chip to diagnose BOR.

Affymetrix has a system whereby 50-300 kilobases can be sequenced at a reasonable cost. This means that we can sequence all three BOR genes plus some others that have been implicated in similar disorders. Once developed, the cost of doing a sequence would be between 350 and 700$$ per patient, depending upon the size of the chip. The cost would be expected to go down with time (it has halved in just the last 18 months). This chip could be used by anyone with the right equipment, which means it could be used in Australia. Set up costs are reasonable.

The set up is $20,000 with a promise to purchase 80 chips at $200 a piece for another 16,000. I am developing a similar chip for Usher syndrome and I have figured to total cost at about $80,000 which would include verification using known samples. Once the chip is developed, it would mean rapid diagnosis at a reasonable cost. The Usher chip is being paid through a private foundation set up by a single family. I mention this, because sometimes small foundations get more support when there is a specific target where success can be easily measured.

If you would like to help this cause, please contact us.