More than Meets the Eye
Thanks largely to members of the Society completing a comprehensive questionnaire, Dr Philip Beales' 1997 survey on LMBB Syndrome proved to be the most significant survey on the Syndrome that has ever been conducted. Surveys such as this are important to all concerned in building up accurate knowledge of the Syndrome, particularly for the medical profession and carers. Following Dr Beales' successful survey, last July we published the most comprehensive description ever produced of Laurence-Moon-Bardet-Biedl Syndrome in the medical booklet More than Meets the Eye.
Dr. Phil Beales, the Society's medical adviser has succeeded in securing a 3-year grant from The Wellcome Foundation to fund research into LMBB Syndrome. He will be working in Houston for 12 months with Dr. Richard Lewis. This raises the profile of LMBB Syndrome and gives recognition to the work of Dr. Beales into every aspect of LMBB Syndrome - gene mapping, research studies and the management of the many symptoms associated with the Syndrome.
Dr Beales tells us more:
Since the first papers describing the rough location (i.e. which part of which human chromosome the genes are likely to reside on) were published in 1993, very little advancement towards identifying the exact locations of the BBS genes has taken place. This is probably due to a combination of the rarity of BBS (and so relatively few large families to study) and evidence for the existence of up to 6 different genes (each one cannot be differentiated on clinical grounds alone). In fact the locations of five BBS genes have been published and designated BBS1-5 (on chromosomes 11q13, 16q21, 3p13, 15q23 and 2q13 respectively). To address the problem of resources, in 1998 the International Bardet-Biedl Syndrome Consortium was established. The consortium comprises labs from three countries; the USA (Baylor College of Medicine, Texas), Canada (Memorial University, Newfoundland) and the United Kingdom (Guys Hospital/Institute of Child Health, London) and its main purpose is to pool family resources, data and technical know-how and to avoid duplication of work. Recently, the Wellcome Trust (UK) has considered molecular genetic research into BBS to be an important area worthy of funding. The award of a Wellcome Advanced Fellowship has enabled me to move for the first year (of three), to Houston, Texas to work with Dr. Nico Katsanis in the labs of Professor Jim Lupski and Professor Richard Lewis. Together we have been concentrating on identifying the gene on 11q13 as both our groups have shown that this appears to responsible for up to half of all cases of BBS in Europe and North America. Already this has proved to be a fruitful collaboration in that we have been able to reduce the area in which the gene lies by at least 10 fold, a prerequisite to identifying the gene itself. This homing-in process has allowed us to focus on a handful of genes already known to exist in the area but whose function is unknown - any one of these may be the BBS gene. By a painstaking process of searching through the genetic code of each of these candidate genes letter-by-letter, we are gradually getting closer to our target. Many new genes are also being discovered (nothing to do with BBS) at the same time giving the whole exercise further meaning. We envisage the responsible gene on 11q13 to be something completely new which might be part of a novel biological pathway, parts of which may be switched on and off at different times during organ development. Other components of this pathway might be coded by the other genes (BBS2-4 on different chromosomes) thus completing the picture. However, finding the correct gene(s) is only the beginning of our understanding how/why the problems associated with BBS come about. The experiments to answer these questions will keep us (and others) busy for years to come. In the short term, however, identification of the causative genes will provide us with a diagnostic test and a prenatal test in those families already affected by BBS (if they so wish). Ultimately, treatment and amelioration of at least part of the Syndrome is our aim, but this can only be achieved by first understanding how the condition arises.
Dr. Philip L. Beales, August 1999
We have a link to Dr. Beales' LMBBS website on our links page
Note: BBS is a common abbreviation for LMBBS
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