FlexFund - Epigenetic Analysis and FSHD Research Testing

Investigator: Peter L Jones PhD

Category: Research - Clinical

Research Plan:

There are two parts to this request. First, roughly half or our 1008 subjects were analyzed using the original epigenetic protocol and half using our NGS protocol that provides >100-fold more data per subject and much greater confidence in the accuracy of the results. We are requesting funding to re-analyze ~100 FSHD subjects from the initial analysis using our NGS approach to determine if any potential mistakes were made in borderline cases. In addition, since many of these early enrolled subjects had a prior genetic confirmation of FSHD, this will add to our NGS database of confirmed subjects. Since samples are already in hand, we do not need to pay for shipping or the kits and 100 subjects would cost about $7,500.

The second part is a request for funding to continue offering our analysis to new enrollees. The majority of individuals currently requesting testing are members of FSHD affected families and particularly parents, inquiring about their FSHD risk and that of their children. We have been able to provide information to help parents while maintaining a clean medical record for themselves and their children. Funding will allow us to perform ~125 new tests for $12,500, all inclusive, to continue helping these families.

Related Material

See publication Precise Epigenetic Analysis Using Targeted Bisulfite Genomic Sequencing Distinguishes FSHD1, FSHD2, and Healthy Subjects