Week 4: The Bloom Syndrome Registry

As I have become more immersed into New York City and clinical life, my mentor and I have been working on developing a project around a genetic disorder called Bloom’s Syndrome. This disease causes sun sensitive skin that can develop lesions generally limited to the face, growth and immune deficiencies, insulin resistance, and increased risk for cancer. The mechanism for these symptoms lies in the genetic instability that arises from mutations to the BLM gene.

We all carry a set of genetic material in the form of chromosomes from our parents. The DNA in these chromosomes can get all jumbled up if mutations form in the genome. As these chromosomes break and reassemble, valuable information that keeps the body running properly on the molecular level can be lost. This process causes some of the symptoms seen in people with Bloom’s Syndrome. The BLM gene encodes for a type of protein called a helicase. Helicases are important for chromosome stability and genetic remodeling. When these proteins do not function properly, parts of one chromosome could transfer to another and the information on those chromosomes could be subjected to the process mentioned above.  

In Bloom’s syndrome, the mutations seen are inherited by one common ancestor as an autosomal recessive disorder. This means that both parents need to carry the mutation to pass on the disorder to their children. Often this is a 25% chance that the child will inherit the disorder and a 50% chance that they will become a carrier for the disease. Since this disease has a high cancer risk and is prevalent in specific communities such as Ashkenazi Jews (the blm^Ash mutation), a registry of current clinical literature on the disease and patients affected by the disease along with their specific mutation has been documented.

The Bloom’s Syndrome Registry is also the type of information that can be used for applications like Face2Gene which uses machine learning to correlate facial features to possible genetic disorders. My task with this registry is to work with my mentor to update information, analyze some of the new and old data to gain some new insights on the prevalence of certain mutations and which communities might be most affected.

I am halfway done with Immersion and part two of the NYC experience is about to commence!