{"id":1037,"date":"2012-08-07T01:39:30","date_gmt":"2012-08-06T16:39:30","guid":{"rendered":"http:\/\/blog.ebinfoworld.com\/?p=1037"},"modified":"2012-09-09T03:10:16","modified_gmt":"2012-09-08T18:10:16","slug":"my-take-away-from-the-debras-pcc-in-orlando-part-2","status":"publish","type":"post","link":"https:\/\/blog.ebinfoworld.com\/?p=1037","title":{"rendered":"My take-away from the Debra\u2019s PCC in Orlando \u2013 Part 2"},"content":{"rendered":"

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:<\/p>\n

What are the odds?<\/strong><\/p>\n

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.
\n\"\"<\/a>Basically, depending on the form, EB can be inherited either recessively or dominantly.<\/p>\n

Recessive<\/span> forms of EB include any form of Junctional and Recessive Dystrophic.<\/p>\n

Dominant<\/span> forms of EB include all forms of Simplex, plus Dominant Dystrophic.<\/p>\n

In Recessive<\/em> Inheritance, both<\/span> 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 \u00a0(25% chance), or carriers (50% chance). Each new pregnancy is a roll of the dice.<\/p>\n

In Dominant<\/em> Inheritance, one<\/span> 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)\u00a0or not affected (50% chance), but they are not carriers. Once again, each new pregnancy is a roll of the dice.<\/p>\n

\"\"<\/a>Of course, things are not always so simplistic. Dominant conditions can be ‘flukes’ at conception, also called new \u201cspontaneous\u201d mutations, meaning they are not inherited.\u00a0The parents can have other children without risking giving their newborn EB again because the DNA mistake occurred sometime \u201cafter\u201d the egg and sperm got together and not before.
\nOn 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.<\/p>\n

Confused yet?<\/p>\n

Here is the video of this presentation, courtesy of Debra:<\/p>\n