With this week being National Engineering Week and this Saturday being World Rare Disease Day, our CEO Lisa Boyette, MD, PhD, has been discussing how engineering and new technology are important to finding a cure for rare diseases such as PSC. You can hear Lisa’s thoughts in an interview with Pittsburgh Technology Council, which produces a weekly radio show called TechVibe, this Friday February 27 at 7pm on KDKA 1020AM.
To give you a taster for Lisa’s interview, today we are writing about how one cutting edge technology – genomic sequencing – holds promise for finding a cure for patients with PSC.
Genomic sequencing is the method used to determine the information contained in an individual’s DNA. Since scientists deciphered the genetic code, we now know how DNA contains information that provides instructions for our life processes. It is not surprising that some errors in this information can lead to dysfunctional life processes and hence, disease. Accordingly, knowing the DNA sequences of individuals with a disease and comparing them to those of individuals without the disease can help us to identify gene changes associated with the disease. Such gene associations may point towards changes in life processes that are causative of the disease that we can fix. Alternatively, the gene changes may act as flags or ‘biomarkers’ of the disease that we can use to help diagnosis in the future.
Before DNA sequencing, scientists and doctors were able to establish that some diseases have a genetic basis through tracing patterns of heredity in families. This was the case for PSC. We have known for a long time that PSC has a genetic basis because family members of PSC patients have an abnormally high risk of having PSC themselves. However, genomic sequencing has allowed scientists to find specific gene changes associated with PSC.
We now know that in PSC patients there are many changes in genes that code for proteins involved in the recognition of foreign proteins by the immune system. Due to the multiple gene changes, it is clear that PSC, unlike classic genetic diseases like cystic fibrosis or haemophilia, is not caused by a change in a single gene, but a myriad of factors. This means we need to gather more information to find common patterns that indicate the cause of the disease. Furthermore, because PSC is a rare disease, we need to gather information from as many PSC patients as possible. This is one of our goals at SAVE JON. As we perform genomic sequencing on more and more PSC patients, we are likely to find that these gene changes result in a common change to a life process that leads to PSC.
The opportunities for finding answers about rare diseases does not end with genomic sequencing, and it is important that we build the funds to explore them. To learn more about ‘omics’ and other technology, as well as how they are part of our plan of action at SAVE JON, tune into Lisa’s interview or catch it again later online.