Rare Disease: How-to ?
I had a conversation with a colleague about how to study a gene involved in a rare human lethal disease. A set of mutations in this gene favors the apparition of the symptoms and only a tiny number of samples is available . How can we learn more about this gene ? I've just got a one or two ideas (hey ! I've not been working at the bench for 10 years :-)...)
- using the product of this gene as a bait in a Yeast two hybrid screen to find one or more cellular partners to this protein.
- A Q-PCR (or chip ?) for a few candidate genes to see how they are expressed in different tissues on affected/non-affected
- ?
