April 3, 2009

RE: Genetic modification of umbilical stem cells for treatment of lysosomal storage disease?

Inspired by two other moms (Carrie and Chris) in the lysosomal storage disease community, I've been looking "outside the box" for possible treatments.

My first treatment concept involves altering the existing cord blood treatment for lysosomal storage disease to use a gene-modified version of Bertrand's own cord blood to minimize rejection and increase engraftment.

After a few weeks of looking into gene-modified umbilical cord blood research, I found a genetics & hematology expert at Harvard Medical School. He has done work with gene-modified cord blood for other diseases. The following is the prompt reply to the email I sent.

Cristina, this will depend very largely on the specific disease-causing gene, if found, and therefore the diagnosis. I would be happy to comment once you know this. There are not too many gene therapy trials open for metabolic diseases at this point.

FYI, this is the body of the email I sent.

I am the mother of a 15 month-old boy who is undergoing evaluation to determine which lysosomal storage disorder he has. Several such as Tay-Sachs and GM1 have already been discounted. I am jumping the gun a bit by looking at possible therapies--we are taking him to Duke University next week to be evaluated for a possible cord blood transplant (if his situation merits it). As you are well aware, there are many risks, such as rejection, associated with this treatment. With this in mind, I was wondering if you knew of anyone was capable genetically modifying his own banked cord blood to be used in the transplant? Your work with adenosine deaminase deficiency is the closest I've found. Even if a clinical trial comes too late for my son, I would like to know who is working in this area. It would make make the fight ahead of us easier knowing that others are fighting with us against this dreadful family of diseases.


  1. Querida Cristy, estoy muy orgullosa de lo inteligente que eres y como has pensado en un tratamiento que seria muy bueno. Ojala se pueda utilizar tu idea.
    Todo mi amor,

  2. Fantastic contact Cristina! I haven't even looked into that end of things yet. We weren't able to bank Hannah's blood ($$$), but I regret it HUGELY even though there is not yet a use we could use for it yet.