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Posts tagged ‘EHK’

Awareness Begins at Home #IchthyosisAwarenessMonth

For Ichthyosis Awareness Month (IAM), we are delighted to be sharing an insightful post from our “Guest Dad Blogger” and long-time FIRST member, Mark Klafter, father of Adam Klafter, affected with Epidermolytic Ichthyosis (formerly known as EHK). In this post, Mark shares his thoughts on deciding where and when ichthyosis awareness raising might have the most far-reaching impact.

Awareness Begins At Home #IchthyosisAwarenessMonth

Ichthyosis Awareness Month is now upon us.   If you didn’t know that, you’re not connected to FIRST in enough ways!    Many people struggle with what to do during this time.   How do I raise awareness?   Do I need to raise awareness?   The answers are “simply,” and “yes.”   But don’t worry, I’m not here to preach to anyone about what they “must” do.

I’m sure everyone would agree, ichthyosis is a very personal thing.  For many, they like it to even be a private family matter.   I get that.  And far be it from me to tell anyone how to live their life.   Like everything else ichthyosis-related, skin care, fundraising, etc., awareness is something you need to do in your own way, and at your own speed.  Also, in my opinion, awareness begins at home and with those closest to your family and community.  They are the ones who have the most interest in trying to understand, and perhaps educate others.

However, before you can educate someone else, you have to first understand what you’re dealing with.   Could you go out there to anyone and simply say “it’s a genetic skin condition,”  or, “my body doesn’t shed skin as quickly as it should,” or, “my body over-produces skin cells?”   Of course you could.  But would you really convey to someone what ichthyosis really is all about?  Would they have empathy for you or your child’s situation?   Would they be compelled to help another person understand ichthyosis, or perhaps support FIRST with a donation?   The answer is, likely, no.

Ichthyosis is complicateIAM_Logo_WebAddressd — period.   I’ve spent the last 13 years continuously trying to learn about and understand my son’s EHK –taking the science of it and converting it into an analogy or example that any nonmedical person can understand.   Only recently have I begun to feel like I’m at the point where I can give someone that clear understanding of what causes his skin to look and behaves like it does; what the complications in his life are because of ichthyosis. And, after over a decade of practice, I can do it in 2 minutes or less! Don’t worry, you’ll get there.

Once you feel you understand the condition, and can clearly communicate it, start with other family members, and your closest of friends.   These are the people you or your children will come in contact with more than anyone else.  Their level of understanding and “awareness” are critical. Again, this is where awareness begins, at home.

Once you’ve accomplished that, you’re ready to go tackle the world — should you choose to.   Perhaps try and schedule some time at your child’s school to go in and talk to his/her science class.   Maybe you can post an ichthyosis “fun fact” every day on social media.  Perhaps write a brief story/article for your neighborhood, church, or school newsletter.  Or maybe even you go BIG and contact the local media to see if anyone will publish a story on ichthyosis, and your family.   Whatever you choose, it has to be what you’re comfortable doing. That’s when self-advocacy truly resonates with others, and unquestionably makes a difference.

Happy Ichthyosis Awareness Month!


Your Donations at Work…

 

Latest FIRST funded Research on Regenerative Medicine & Stem Cell Biology

As one might imagine, the most top-of-mind question FIRST is asked by nearly all those affected with ichthyosis is:  What type of research is FIRST currently funding?  And, in fact, one of the most rewarding and exciting parts of our jobs, is…providing the answer.

­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­Since 2006, Dr. Dennis Roop, an internationally recognized leader in skin disease research and his team at the Charles C. Gates Center for Regenerative Medicine and Stem Cell Biology at the University of Colorado, has been funded by FIRST research grants to continue their cutting-edge work in epidermolytic ichthyosis (formerly known as EHK).

 Traditionally, stem cell research has focused on cells that are isolated from embryos and have unlimited “pluripotentcy” (the potential to differentiate into any type of cell or tissue). However, the goal for Dr. Roop’s  project is to generate induced or “reprogrammed,” pluripotent stem (iPS) cells, from adult cells.

Dr. Roop is specifically working with adult cells of epidermolytic ichthyosis (EI) patients – essentially reprogramming, or “inducing” pluripotentcy, by introducing factors, into these cells, that are capable of removing all of the cell’s memory, stripping it of all genetic coding as an adult cell, and reverting that cell back to an embryonic-like state. The reprogramming procedure gives the adult cells nearly the same pluripotent capabilities as embryonic stem cells.  There are two advantages of working with iPS compared to adult cells: they can multiply for a more prolonged time than adult cells and gene correction strategies work more efficiently in iPS cells than in adult cells.

The long-term goal of Roop’s work is to create iPS cells from individual patients, correct the mutant gene they contain, differentiate the iPS cells into keratinocytes andthen graft the corrected keratinocytes back onto the patient–in hopes that  they will multiply and generate unaffected skin. The research is best described in the above video, taken September 2012, whereby the fascinating research of Dr. Roop and his team is explained to a family affected by EI, in the very clinic the research is being conducted.

What specific progress has been made?

To date, the defective K1 gene in one patient’s iPS cells has been corrected.   This was achieved by introducing a zinc finger nuclease and a piece of DNA that contains the normal version of the mutant K1 gene into the iPS cells.  The zinc finger nucleases are like molecular scissors that cut the K1 gene near the site of the mutation.   The cells own DNA repair machinery then replaces the cut, defective region of the K1 gene with the introduced normal region of the K1 gene.

Tests are currently being performed on the corrected iPS cells to make sure that they are genetically stable and contain no new mutations.  Once that has been confirmed, a special recipe of nutrients will be added to the corrected iPS cells to allow them to become keratinocyte stem cells, and those will then be grafted onto mice to see if they will form a normal epidermis.  Differentiating iPS cells into keratinocytes is routine in many labs and well-established in Roop’s lab.

More on Dr. Dennis Roop’s research regarding EI (epidermolytic ichthyosis).