I want to introduce you to a physician who is embarking upon some cutting edge research for ATS. His name is Dr. Jonathan Lu, From Columbia University, NYC, USA . He plans to use skin cells to generate stem cells, for use in studying ATS !! He will begin with the cardiac manifestations, but hopes to be able to get collaborators to also use these cells to study other systems affected by ATS ( Skeletal muscle, brain ) I am really excited about this! Please see his post below! Take Care-
My name is Jonathan Lu and I am a clinical cardiologist who specializes in heart rhythm disorders at Columbia University Medical Center. I am also a scientist with special interests in heritable arrhythmias. I plan to attend the upcoming Periodic Paralysis Association Conference and wanted to let the attendees with ATS know that there will be opportunity to further ATS research by donating some skin cells at the conference. We think this represents an important, unprecedented opportunity to advance our knowledge of ATS!
As most of you know, cardiac arrhythmia (heart beat irregularities) is an important feature of the Andersen-Tawil syndrome that can lead to dizziness, passing out, and even sudden death. Because of this, ATS is also considered one of the Long QT syndromes (LQT7).
Scientific studies have now led us to the knowledge that most ATS are caused by a mutation in a potassium channel called KCNJ2. This discovery has greatly enhanced our understanding of ATS, but many clinical and scientific mysteries remain. For example, why do families members who have the same gene defect present with different constellations of clinical syndromes? How exactly does the mutation cause heart rhythm disorders? What is the best antiarrhythmic drug for the treatment of ATS? How does the KCNJ2 mutation cause problem with muscle and bones?
In the clinical-scientific communities, we have been limited in our ability to research the answer to these questions, in large part due to our lack of access to relevant human tissues. In other words, we simply have not had access to patient’s heart, muscle, and bone tissues that will enable us to look closely at the exact consequences of the gene defects.
The great news is that now we have a way of creating heart, muscle, and bone tissues from skin cells! Some of you may have seen in the news that it is now possible to take skin cells from patients, grow them in a petri dish, and turn them into stem cells. Stem cells, especially patient-specific stem cells, are powerful tools for scientific studies because they have the potential of becoming any tissue in the body. Once we have stem cells generated from skin cells (they are called iPS cells, induced Pluripotent Stem cells), a potentially unlimited supply of heart, muscle, and bone cells will be available for research studies.
In the case of ATS, if you decide to donate some skin cells, we will produce stem cells in the laboratory, then turn them into heart cells. This means that we will be able to directly study your heart cells in the laboratory to ask important clinical and scientific questions that have previously been impossible.
I hope you will consider participating in our effort and I look forward to meeting you all at the conference! Please feel free to contact me with questions at email@example.com, or 212-305-0055.
Please note: opportunity to participate can still be arranged if you are not attending the PPA Conference. Given the rarity of ATS it is vital to find participants ! Please contact Dr. Lu if you wish to help move this research forward . Thank you!!