The Kit Taylor Memorial Lecture never disappoints. The 36th installment of this annual event, held on April 4, 2016, continued the tradition of important and relevant topics presented by engaging speakers.
The 2016 guest lecturer was Dr. Patrick Sosnay speaking on CF Genetics: How Much Does a CF Patient Need to Know? His presentation was a good mix of some familiar background information on what has been learned about the CFTR gene and the application of that information into three main areas of practice: diagnosis, prediction and treatment.
You can view a recording of the lecture (courtesy of the CF Center and URMC’s technology department) here: 36th Annual Kit Taylor Memorial Lecture You may experience a few minor glitches in the sound, but you won’t miss anything significant.
We encourage you to view the recording which runs a little over an hour. To whet your appetite, here are some highlights:
- Not all mutations of the CFTR gene will produce CF. The finding that a particular mutation results in CF disease must be confirmed through a combination of consistent clinical observations, consistent functional observations and consistency across individuals with the same mutation. Dr. Sosnay is a key player in the CFTR2 website that provides information on all known CFTR mutations. [The site is undergoing a format update, so look for more news once the new look is available.]
- “Unfortunately in genetics, there are no absolutes.” Observation has shown that individuals with identical mutations can have vastly different presentations of the CF disease. Multiple factors could be involved in the observed differences, including the impact of other genetic factors, the living environment, adherence to treatment protocols, etc.
- The increased understanding of the range of expression CFTR mutations have at the cellular level (see our recent post on this topic) has spurred research into treatments targeted at specific mutations. The approval of Kalydeco (for G551D) and Orkambi (for F508del) is just the first step in a string of treatments in the pharmaceutical pipeline. It was reassuring to hear that the Cystic Fibrosis Foundation is committed to a “no mutation left behind” strategy; that is, they will sponsor research into treatments for all known CF-causing mutations.
- Mutation-specific therapies are not silver bullets. Starting new therapies will not reverse damage already done, and this fact encourages the introduction of these therapies as soon as possible. Additionally, the new therapies will not eliminate the need for other components of CF care.
There was so much more to Dr. Sonsay’s presentation, so please find the time to view the whole video.