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What Is Bardet-Biedl Syndrome?

Inspired by one family's tireless efforts to help their daughter, Everyday Einstein discusses the complex causes of Bardet-Biedl Syndrome, or BBS. Read on for the chance to be a part of the solution! 

By
Lee Falin, PhD,
December 14, 2013
Episode #080

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I want to introduce you to a young lady named Lucy Pothier. Lucy has a condition known as Bardet-Biedl Syndrome, or BBS. This syndrome causes vision-loss, ilovelucyprojectobesity, and a variety of other health issues in children. The I Love Lucy Project is a fund-raising effort started by Lucy's family in 2009 to help fund BBS research.

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Let’s take a look at what we know and don’t know about BBS, and just what makes it such a complicated syndrome to treat.

Cilia Acting Silly

Understanding BBS requires that we first take a little tour of the outside of our cells. In the early days of science, people staring at cells through microscopes noticed that they had these wavy hair-like things sticking out of them. These little wavy hairs were named cilia, which is the Latin word for eyelashes

Scientists quickly realized that the cilia were involved in all kinds of important things, such as moving eggs down fallopian tubes and pushing germs and mucus out of the lungs. Single-celled organisms also use cilia to propel themselves around in liquid. 

Then in 1898, someone noticed that amongst all of these wavy little cilia, there was always a single cilium that acted differently. Most of the time it just sort of sat there, ignoring its wavy cousins. Since scientists love to categorize things, they started referring to the normal, wavy cilia as motile cilia (meaning “cilia that move”), and the lone non-moving cilium they dubbed immotile. 

They assumed that this lone cilium must be a vestigial leftover of evolution, much like the appendix; not really needed any longer, but still hanging out like an unwelcome party guest. Satisfied with this conclusion, they proceeded to ignore immotile cilia (or primary cilia as they were later named), for the next 100 years or so.

Then in the late 1990’s, scientists started to realize that there was more to these primary cilia than they originally thought. It turns out that they have a variety of important functions, such as acting like little antennae to let the cell know what’s going on outside of the cellular membrane, detecting all kinds of things like light intensity, gravity, temperature, and the concentration of various chemicals. In the eye they serve as transporters, sending molecules from one end of the photoreceptor cell to the other.

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