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Bardet Biedl Syndrome Family Association

Connecting families and sharing information on research, treatment, and therapies for Bardet Biedl Syndrome.

Conference Highlights: Dr. Erica Davis, genetic researcher at CHDM, Duke University

Dr. Phil Beales from the UK was going to join us for the conference this year, but unfortunately his father is very ill. We wish Phil and his family all the best.

Dr. Erica Davis who is part of the Center for Human Disease Modeling at Duke and who works with Nico and Phil on much of their research presented in Phil Beales’ place on the history and current progress of genetic research.

Here are some highlights:

1) BBS6 was the first gene identified in 2000. Since that time 16 additional genes have been discovered (BBS1 through BBS17) and verified covering 75% of BBS families. Using the genetic material donated through the BBS associations in the US and the UK, CHDM believes they have identified two more genes. After further testing and validation identification of those two genes should be published over the next few years.

2) The key to unlocking BBS was the identification of BBS8 in 2003 and its association with situs inversus (having organs on opposite sides of the body than normal). It was already known that situs inversus is related to cilia defects. So finding a BBS gene with a clear symptom that was cilia-related opened the doors to all the research that followed–it was the clue that BBS was all about cilia.

3) In many ways, we are lucky that BBS is a ciliopathy (or disease caused by mutations to cilia). The cilia are a very discreet and relatively easy to study part of cells. It is relatively easy to see what is happening (or not happening) with cilia as opposed to other types of cell damage.

4) One important way that the genetic research has improved lives is that in 1999 the median age of diagnosis was 9 years (in other words, half of people diagnosed were older than 9 when they discovered the cause of their symptoms). Today, that is being reduced substantially and children are being diagnosed prenatally with a molecular confirmation within a few months of birth.

5) One of the things we’ve been learning from the genetic research is that most mutations of BBS genes are unique to the family carrying them. There are two common mutations–1 of BBS1 and 1 of BBS10–that many people carry, but for the most part every family is slightly unique in their specific mutations. More than 100 different DNA changes have already been described in BBS.

6) While there are at least 20 genes that code for proteins that affect cilia in such a way to cause BBS symptoms, there are more than 1000 proteins in total that affect cilia. There are many other diseases that are caused by defects in cilia or cilia-associated proteins–these are known as ciliopathies.

7) A big leap forward in research has been the creation of central database known as the cilia proteome. This is a place where researchers from around the world can find information about all of the genes and the proteins associated with cilia formation or function. This enables much more collaboration between researchers studying any form of ciliopathy–and will help accelerate the progress of research.