where wheelchair users and BIID/transabled unite!

New BIID study, participants needed!

Dear fellow PWBs (persons with BIID),
there is a new study going on in Georgia University, USA. They are trying to find a gene responsible for BIID. So far they have only six participants, not enough to find the causative gene. Please, PLEASE, participate. The person responsible for the study is very kind and always willing to answer any of your questions. You would fill out a short questionnaire and then they would send you a kit for your blood.

If you are interested, please contact us and we will send you an email address for Dr. Kim. Or go to the Forum section where you can find it also.

Here is Hyung Kim’s announcement:

We found Three Candidate Genes for BIID

Hyung-Goo Kim, who is a molecular geneticist and a research fellow at Dr. Lawrence Layman’s lab at Georgia Health Sciences University in United States, has been performing a genetic study to identify disease genes involved in BIID. So far this lab has found three promising candidate genes in individuals with BIID, that are likely to cause BIID when mutated.
This preliminary result of this genetic study should be confirmed by more extensive genetic study called mutation screening, in which all participants of BIID will be screened for three genes to see whether any of these genes are mutated in the participants.
The total number of human genes in each person is estimated to be about 23,000 and we have been able to drastically reduce the number of candidate genes for BIID to three. On the scale of DNA, finding these three candidate genes is much like looking for bank-robbers’ cars in United States, and eventually finding them one in a garage of a run-downed house in a small town in Mississippi, another in the middle
of cornfield of a town of Iowa, and the third one in a junkyard of small town in North-Dakota.
The identification of a disease gene leads immediately to knowledge of the protein coded by the gene and, often for the first time, an understanding of the molecular and physiological basis of the symptoms of the disorder. So far in many genetic disorders, identification of underlying genes has provided extraordinary explanatory power about the nature of the disease symptoms.

Let me put it this way. If your car is broken and thus has some problems you want to fix it. The first step the mechanic takes is to find which component is broken.  After knowing this he can try to repair in various ways.  One way to repair it is to replace the broken part.
Disease gene identification is the same first step to learn where the defect is. Without this step there is no way to deal with the disorder.

If we discover the disease gene:

1. We can confirm the diagnosis, especially when the diagnosis is uncertain.  This means that we can clearly distinguish BIID from other similar disorders.

2. It can offer reassurance by knowing that other family members are unaffected.

3. It can generate immense interest in general medical and genetic community, accelerating awareness and future research.

4. We can understand the role of the gene in normal and abnormal human development.

5. We can try to develop improved therapies.

6. By PGD (Preimplantation Genetic Diagnosis) we can prevent this mutant gene from being inherited to next generation. This PGD is only possible if we know which gene is mutated in a BIID person and where in the gene the mutation is located. Therefore the mutation screening of BIID individuals is a great opportunity to know whether one of these three genes is mutated and if so, in which part of the gene the mutation is located.

We think there is a good chance that these three genes account for large portion of BIID individuals. Genetic research is very slow.
Finding the gene is the very first step. Next, researchers will try to understand the gene function, how it affects BIID, and what other activities it is involved in.

Presently research fellow Hyung-Goo Kim at Dr. Layman’s lab is conducting molecular genetics study of this disorder as a main investigator at Georgia Health Sciences University in United States.

The Molecular Study

There is no cost to you to participate in the molecular genetics study of BIID. We will request blood samples and consent form from you and some family members if possible in order to determine whether one of these three genes is mutated in participants. The personal information of all participants will be kept strictly confidential and will not be released to any company or government or his/her family. The participants can stop participating any time they want and all records will be discarded.

Your participation will make a great difference in this important study.

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13 Responses to New BIID study, participants needed!

  1. mike says:

    This study might help me understand my thoughts.

  2. Elisabeth says:

    The study is still open. Many people have ethical objections to it. Genetics is often a double edge sword. When a gene is isolated, often the cure is still not found (just think Cystic Fibrosis). Then the genetics is often used for “weeding the sick” through prenatal testing and recommended abortion. On the other hand, it is also used for making lab embryos and then implanting the “healthy” one. I object to any of these procedures, yet if I can get more insight into BIID, I would take the chance. Even with all the prenatal testing and such, so far one can say no to both testing and/or abortion in most countries, I believe. For me, personally, knowing if my kids had a gene would help me to prepare them to understand and accept who they are.

  3. james says:

    sounds good to me where do i sign up?

    • Lucy says:

      Hello James,

      I’m writing this for you but also for other people who identify as having BIID. I’m from independent production company, Remark Media. We are a disability-led group and we are researching a documentary about people with BIID. We are UK based in London but looking for contributors from all over. If this is something you think you might be interested in then please do get in touch. Our programme is from the perspective of people with BIID along with expert medical opinions. We are aware of the sensitive nature of the programme and that people may prefer to remain anonymous which we respect. I would love to hear from you and others responding to this strand. Your contribution will help us to help make a thoughtful and intelligent programme about this subject.

      Please do get in touch with me for more information.
      best wishes,

      Lucy
      lucy@remark.uk.com
      http://www.remark.uk.com

  4. Ben says:

    I am interested in participating in this study, and live right in Greenville SC, very close to Georgia… Love to get more info.

    Ben

  5. Mon moignon says:

    HI,
    Do I have to give my real name ?

  6. Elisabeth says:

    You don’t have to give your real name. There are two parts to the study: a questionnaire through email and then a blood sample. You could have the blood kit send to a friend’s address if you wish to fully keep your anonymity.

  7. H. A. Sisler says:

    BIID has been with me since the start of recallable memory. I have auto -amputated five toes. I wish for more, but I don’t want to be disabled or disadvantaged in life.
    I am, at this point almost 80 years old but in excellent health and seem much younger. I’d like to help with the investigation. In my awareness, this condition is most common among males of Germanic heritage, more often gay than straight. Next most common heritage is northern European, but extremely rare everywhere.

  8. Nadine says:

    I’d like to take part in the study, too (sorry for answering so late, I just found this web site)
    But I don’t live within the US… I’m from Germany. And I’m only 16 and I didn’t tell anybody about BIID and me. I also don’t have blood samples of me and my parents won’t allow to send some of their blood samples to the US 🙁

    What should I do? I’d really like to help them with the study…
    (I could do the e-mail survey only if it would be ok for them)

    • Lucy says:

      Hello Nadine,

      Please see my reply to Gina’s post and do get in touch with us if you would like to be involved in our programme. We are keen to include a range of people from different backgrounds, locations, ages and perspectives.

      We respect the need for privacy.

      best wishes,
      Lucy
      lucy@remark.uk.com

  9. Gina says:

    Is this study still in need of participants? I might be willing to participate.

    • Lucy says:

      Dear Gina,

      I’m from independent production company, Remark Media. We are a disability-led group and we are researching a documentary about people with BIID. I’m writing to you as I notice you were interested in the research taking place in the States. We are UK based in London but looking for contributors from all over. If this is something you think you might be interested in then please do get in touch. Our programme is from the perspective of people with BIID along with expert medical opinions. We are aware of the sensitive nature of the programme and that people may prefer to remain anonymous which we respect. I would love to hear from you and others to help make a thoughtful and intelligent programme about this subject.

      Please do get in touch with me for more information.
      best wishes,

      Lucy
      lucy@remark.uk.com
      http://www.remark.uk.com

  10. Thank you guys who are interested in participating in BIID study.
    Would you please send me an email so that we can discuss about this genetic study?
    Thank you and I look forward to hearing from you soon.

    Kind regards,
    Hyung-Goo Kim

    Hyung-Goo Kim, Ph.D.
    Associate Professor
    Department of OB/GYN
    Institute of Molecular Medicine and Genetics
    Georgia Regents University
    Augusta, GA 30912
    USA
    Tel: 706-721-5764
    Fax: 706-721-0340
    Email: hkim@gru.edu

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