Stem Cell Line with Charcot-Marie-Tooth Available for Research

by | May 4, 2012 | 22 comments

Stem Cell Line with Charcot-Marie-Tooth Available for Research imageThanks to collaborative efforts of the University of Michigan Consortium for Stem Cell Therapies and molecular research scientists at Michigan-based Genesis Genetics, scientists are one step closer to understanding Charcot-Marie-Tooth disease.   A stem cell line has been placed on the U.S. National Institutes of Health’s registry, making the cells available for federally-funded research.

The line was derived from a cluster of about thirty cells removed from a donated embryo, created for reproductive purposes, roughly the size of the period at the end of this sentence,. When testing showed the embryo to be unsuitable for implantation due to a genetic disorder, it was donated.

This stem cell line, known as UM11-1PGD, carries the gene defect responsible for Charcot-Marie-Tooth (CMT).   Because the stem cell line carries the unique characteristics of CMT, it is very useful in the study of the disease’s progression.  This may lead to screening techniques and hopefully, a cure.

The University of Michigan Consortium for Stem Cell Therapies is part of the A. Alfred Taubman Medical Research Institute. In an April 25, 2012 press release, Dr. Eva Feldman, who sees patients with CMT as part of her clinical practice at University of Michigan Medical School, said, “This is another major step forward for medical science in Michigan.  It opens up another avenue for researchers to really begin exploring the causes and progression of those diseases, with the ultimate goal of finding new therapies for patients.”

A. Alfred Taubman, founder and chair of the Taubman Institute was noted as saying, “this new milestone means much to the University and the state of Michigan, but also to the world.  We hope it is the first of many lines that we can contribute to the global efforts to improve human health.”

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  1. Jenny Meincke

    Hi, my son has CMT type 2 by mutation. I am currently pregnant would cord blood banking be helpful in the future? Thanks

  2. Kamaal ahmad

    Hi I am 41y old male have cmt1x any stem cell can help

  3. Christina

    My daughter is 2 and was diagnosed with 4B2, which Seems to be rare. Neither her father nor I are a carrier and I’m currently pregnant should I do cord blood? She has just recently had a tendon transfer in both legs at Mayo Clinic in Minnesota


    As an 67 yr old male who has suffered with CMT most of my life I am looking for any contact information on cell research

  5. Jason Eberhardt

    I was diagnosed in 2007 with cmt.
    Things have become more and more difficult to do because of this. I hope and pray for a cure to not only help me but to help other people who deal with this same problem cope with its affects.

  6. Krishna

    I was diagnosed with rare mutation, have got one of the mutation each from my parents. There is no case studies on these mutations nor any genetic consular has a assured answer how it will progress in next generations as i have 100% chance of passing one mutation. Please let me know how i can contribute to this research so any progress can be made in such cases world wide.

  7. nayyar

    I am 18 years old and i was diagnosed with charcot marie tooth disease 5 years ago. my symptoms got worse five years ago and i was in and out of hospitals every month or so. my feet, legs hands and arms hurt whenever i do something normal people my age do for example taking part in sports and going to work. however i find cycling daily for one hour helps as it strengthens your muscles in your legs and i also play cricket which strengthens my muscles in my arm and hands. i do hands and leg exercises everyday to strengthen the muscles in my hand and to improve my drop foot. i also wear on hand and feet splints which improve my posture. despite all of this i find it difficult to do everyday things and to wear trousers that don’t look really loose because it gets to me emotionally due to the way i look and walk which keeps me from going out of the house. however recently i started discussing my condition with friends and family which helped me a lot by not making me feel bad about myself. i am hoping for a cure.

  8. Dave Devine

    I am a 45 year old male. I was diagnosed when I was just a sophomore in high school. My symptoms include; weakness in my legs and hands, when this disease decides to throw a spell into me; I don’t have the strength to lift myself from a seated position and with my hands it makes it very difficult to perform the fine motor skills. Therefore I am hoping that there will be a cure or at least a treatment in the stem cell research.

  9. Nancy Hilden

    My husband has CMT which we suspect his father had. My husband is 74 and has exhibited symptoms for about 10 years. Is there a place or physician you can recommend who can test for the type of CMT he may have. I see you recommended to Allison Moore she determine the type. We are in Northern California and would welcome your advice.

    • Allison Moore

      Hi Nancy, UC Davis sees a lot of patients with CMT. If you are interested in a name/number please email me directly at [email protected]. The other option is to have your husbands primary care physician order the genetic test through one of the genetic labs listed on the HNF site at

  10. John

    My son has CMT-1A. His cord blood is currently stored. We are up for renewal and I’m not sure if there is a benefit to continue storing. Will these stem cells carry the disorder making them unusable for a potential cure? Would the cord blood be more useful for a research facility? Can we donate them?

  11. Michele

    Hi Courtney thanks for your answer. I’m already joined in Registers.

  12. Michele

    Hi…I have just found that I’m suffering of CMT1b (Type c.306delA – Val102fs)
    I’m hoping for a cure….

      • Kiran Daware

        My son is 13 year old and we notice his problem when he was 3year old… He has CMT. We use braces for legs, his hands are also week, however he is very bright and intelligent and learning in normal school. Is there any positive research with the help of Stem cells.. Please let me know..

        • Iris S.

          My son is 3, and was just diagnosed. I’m curious to what type your son has, as we are very frightened right now about the quality of life our son will have in the future.

  13. Dina

    My father in-law was diagnosed with CMT in his 70’s. We highly suspect his father had the disease as well but did not show symptoms until he was older as well. I am so sorry for the young people who have this disease and often worry about my boys as well. I find it interesting his symptoms did not occur until he was elderly. Are there different strains that cause symtoms to manifest more slowly?

    • Allison Moore

      Hi Dina, thank you for posting. Although not that common, we do have families that present with symptoms much later in life. I personally have connected with families that didn’t manifest symptoms until the late 60’s early 70’s. Do you know what type of CMT your father-in-law has? There are genetic tests to confirm or rule out if a person carriers the gene for the majority of the types of CMT.

      • James Shillenn

        I was diagnosed with CMT at 72. I belive my father had it. I do not know much about it. The calf in left leg has shrunk and some feeling lost in both legs.

  14. Arpit Singhal

    My son is suffering from charcot marie tooth disease type 1 A. In his Muscular dystrophy has been just started. He is 13 years old .I am from India.
    “Please Help Us”

    • courtney

      I am so sorry your son is suffering. Have you been able to find others in India that have CMT? We will keep our eyes and ears open if we come across anyone and can connect you. Please sign up to receive our CMT Update that has up to date info on research!

    • Krishna

      Hi Arpit,
      I myself and my two of the sibling have CMT (rare mutation) and i am from India too. It took me 33 years to know what mutations caused it and how it passed on. Still don’t know how it will effect future generations as no case studies. Let me know if i can be of any help with any information.


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