A simple treatment for human genetic diseases

Here is how it might work.  Suppose your child is born with an incurable disease due to a mutated gene.  After diagnosis, the cure would go like this:  Step 1: hair, blood or skin cells are collected from the patient and allowed to replicate.  This is a standard laboratory procedure. Step 2: the mutated genes in cells in the sample are replaced with corresponding normal genes.  This step involves using techniques from the field of gene therapy.  Several possible methods are being researched for deleting and introducing new genes.  Step 3: the cells are reprogrammed to create induced pluripotent cells, iPS cells that for all practical purposes are like patient-specific embryonic stem cells.  Reprogramming of any cells to pluripotent state, was discussed in a previous post on this blog, Rebooting cells and longevity. The resulting iPS cells are functionally equivalent to  the patient’s original stem cells, but no longer have the genetic defect.  They can differentiate into any cell type given the correct signaling conditions.  Step 4:  The iPS cells are introduced back into the body in such a way as to regenerate organs free of the disease.  For example, if an organ such as the heart has been damaged by the disease, the iPS cells could be introduced so as to regenerate healthy heart tissue.  While some success has been achieved with mice, Step 4 will require significant disease-related research if it is to be used in humans.  Introducing iPS cells into a live organism can lead to tumors such as teratomas if the signaling conditions are not correct.     

Research reported a few days ago shows that for one human genetic disease, Fanconi anemia (FA), steps 1-3 have been successful.  FA is characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemias, bone marrow failure (aplastic anemia), and cellular sensitivity to DNA damaging agents such as mitomycin C(ref).”  “Caused by mutations in one of 13 Fanconi anemia (FA) genes, the disease often leads to bone marrow failure, leukemia, and other cancers(ref).” 

The researchers started by collecting hair and skin cells from FA patients, and they ended up producing patient-specific iPS cells that were cured of FA.   Since blood cells are some of the worst affected by FA, they “tested whether patient-specific iPS cells could be used as a source for transplantable hematopoietic stem cells. They found that FA-iPS cells readily differentiated into hematopoietic progenitor cells primed to differentiate into healthy blood cells(ref)”  The researchers have set their sights on going forward to achieve Step 4. 

The prospect is for a simple and elegant approach to treating many, perhaps most, genetic diseases.  

About Vince Giuliano

Being a follower, connoisseur, and interpreter of longevity research is my latest career. I have been at this part-time for well over a decade, and in 2007 this became my mainline activity. In earlier reincarnations of my career. I was founding dean of a graduate school and a university professor at the State University of New York, a senior consultant working in a variety of fields at Arthur D. Little, Inc., Chief Scientist and C00 of Mirror Systems, a software company, and an international Internet consultant. I got off the ground with one of the earliest PhD's from Harvard in a field later to become known as computer science. Because there was no academic field of computer science at the time, to get through I had to qualify myself in hard sciences, so my studies focused heavily on quantum physics. In various ways I contributed to the Computer Revolution starting in the 1950s and the Internet Revolution starting in the late 1980s. I am now engaged in doing the same for The Longevity Revolution. I have published something like 200 books and papers as well as over 430 substantive.entries in this blog, and have enjoyed various periods of notoriety. If you do a Google search on Vincent E. Giuliano, most if not all of the entries on the first few pages that come up will be ones relating to me. I have a general writings site at www.vincegiuliano.com and an extensive site of my art at www.giulianoart.com. Please note that I have recently changed my mailbox to vegiuliano@agingsciences.com.
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  1. Pingback: genetic disorders in human - NEW BIOTECHNOLOGIES – NEW BIOTECHNOLOGIES

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