Here is the most up-to-date list of genes known to be implicated in PCD. There are more coming, so this list will be updated frequently. The percentages of patients affected by each gene are determined by the researchers who identify the gene.
When we say ‘PCD gene,’ what we really mean is that PCD is caused by mutations on specific genes. The genes themselves are not unique (nor are they ‘bad’). Every human has a DNAH5 gene. It’s just that certain mutations on DNAH5, if passed on by both parents, will result in PCD in the child.
Just for reference, cystic fibrosis is caused by mutations on a single gene (called CFTR). The CFTR gene has over 2000 separate mutations known to result in CF. So far, we are up to 30 genes in PCD. Each of these genes has multiple mutations. You can see what a challenging job it is to identify and create a test for PCD!
This file requires Adobe Acrobat Reader (free), which can be downloaded here.
Ciliary Ultrastructure: Abnormal
Ciliary Ultrastructure: Normal and PCD
Does the thought of asking for money give you hives? Rest assured that you are not alone! Fund-raising doesn’t come naturally to most people, but having fun sure does! Pretty much any interest, hobby or social networking activity can be turned into an opportunity to raise funds for the PCDF. Let us help you to help us and the PCD community. No idea, no matter how unique or even just plain weird is off limits (within reason, of course–nude flower arranging might be pushing it). If you feel the urge to help raise funds for the PCDF, we will here to support you. Here is a link to our Development Handbook to get you started.
If you are interested, please feel free to leave contact information in the area below, but be aware that this is a public site. It may be preferable to contact the PCDF directly at firstname.lastname@example.org or our Development Director, Carey Kauffman at email@example.com. Please reference ‘Fundraising Volunteer’ in the subject line.
The PCDF is looking for an organized, experienced writer/editor to work with the Executive Council in producing The Beat, the newsletter of the PCD Foundation. The ideal candidate will be familiar with online newsletter production (or willing to learn), have creative ideas for improving the content of the Beat and will be able to meet deadlines (which will be a first for this publication!).
If you are interested, please feel free to leave contact information in the area below, but be aware that this is a public site. It may be preferable to contact the PCDF directly at firstname.lastname@example.org and reference ‘Newsletter Editor’ in the subject line.