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.