Day 2 at the PCC was the most intense one, 15 speakers in all! Here’s what the first 2 speakers of the day had to say:
What are the odds?
Dr Amy Paller conducted this talk about genetics and EB. This talk to me was old news, blah blah, ha ha. I am certain that new parents appreciated the info though. I only took photos of a couple of slides, but I found this graphic online which perfectly explains the genetics behind EB she explained.
Basically, depending on the form, EB can be inherited either recessively or dominantly.
Recessive forms of EB include any form of Junctional and Recessive Dystrophic.
Dominant forms of EB include all forms of Simplex, plus Dominant Dystrophic.
In Recessive Inheritance, both parents carry a normal gene (N), and a faulty, recessive, gene (n). The parents, although carriers, are unaffected by the faulty gene. Their offsprings are either affected (25% chance), not affected (25% chance), or carriers (50% chance). Each new pregnancy is a roll of the dice.
In Dominant Inheritance, one parent has a single, faulty dominant gene (D), which overpowers its normal counterpart (d), affecting that parent. When the affected parent mates with an unaffected and non-carrier mate (dd), the offsprings are either affected (50% chance) or not affected (50% chance), but they are not carriers. Once again, each new pregnancy is a roll of the dice.
Of course, things are not always so simplistic. Dominant conditions can be ‘flukes’ at conception, also called new “spontaneous” mutations, meaning they are not inherited. The parents can have other children without risking giving their newborn EB again because the DNA mistake occurred sometime “after” the egg and sperm got together and not before.
On this slide, Dr. Paller was showing how a patient with Dominant Dystrophic EB had a child with a carrier of Recessive Dystrophic and their child was born with RDEB.
Confused yet?
Here is the video of this presentation, courtesy of Debra:
Here is the presentation about this subject from the 2010 Conference:
Update on Genetics and Stem Cell Therapies
I am a big fan of Angela Christiano, so I was eagerly awaiting her talk, which proved to be extremely interesting. Dr. Christiano talked about 3 specific things that pretty much blew me away. I hope I can explain them as clearly as I can in laymen’s terms!
1. Everyone knows of the risks of the Bone Marrow (Stem Cell) Transplants… but wouldn’t they be MUCH safer if the donor was the patient itself? What they are working on right now is harvest the patient’s own skin cells, modify them (correct the faulty gene-here’s the slide with how they do it… clear as mud, no?) and then grow the bone marrow of it to use for the transplant. While this patient might still need a low dose of chemotherapy before the transplant to allow for it to take, the amount of immune suppressant drugs needed would be GREATLY reduced. She stressed this is MANY years away, but oh, SO EXCITING!
2. They are working on a cream to use for Simplex patients… it’s called ‘RNA Interference Treatment‘. They are using the work done for another skin disorder effected by the Keratin called “Pachyonychia congenita“. In laymen’s terms, this cream would switch OFF the faulty gene. Debra UK is doing a project right now, details of that are HERE.
3. As if the above is not exciting enough, she also spoke about her Mosaic Study. Evidently there are some EB patients that have ‘patches’ of skin that do not blister and have never blistered, and when biopsied they found that they do make the protein lacking elsewhere on their body. I found this article online from the Netherlands and they called it ‘Revertant Mosaicism‘. I am unclear how they could use this information to help EB patients. I am SURE Dr. Christiano said it, I just can’t remember. The article linked above talked about screening these regions for genetic reversion and revertant-cell therapy with the use of the patient’s own naturally corrected cells for autotransplantation. If anyone has anymore info, PLEASE leave a comment below!
One last thing that Dr. Christiano mentioned is to please contact her if you are or know an EB patient that has “normal” patches of skin for her study.
Here is the video of this presentation, courtesy of Debra:
Part 1 is HERE.
Update 8/7/2012
Emily Gorell from Stanford relayed to me that if you have questions about revertant mosaicism, they are actually working on that also and she is happy to talk to people about it, along with their studies in gene transfer, and induced pluripotent stem cells. More info on their website: http://dermatology.stanford.edu/gsdc/eb_clinic/trials/index.html
Mom to 3 boys, 1 in heaven, 2 on earth. My first son Alex (whose demise is most likely EB related) was stillborn at full term. After a miscarriage, I had my second son Nicky, who has the Recessive Dystrophic form of Epidermolysis Bullosa. My youngest son, Connor, is 100% healthy, and I never, ever take it for granted. I am an author, photographer, graphic artist, webmaster, blogger and more.
