I briefly learned about pedigree trees in my first biology course at F&M - Evolution, Ecology and Heredity. The diagrams show relationships using symbols to represent people and lines to represent genetic relationships. Essentially – these diagrams make it easier to visualize relationships among family members that carry genetic diseases. Freshman year we learned about pedigrees and then used the knowledge to determine the mode of inheritance a genetic disease that Professor Dawson presented us with. I stumbled upon these simple diagrams again in Professor Jenik’s Molecular Genetics course, except we discussed them in a bit more detail and the problems were a bit more complex. That same year – I faced them again in a course entitled Plain People Modern Medicine. Professor Strauss, Puffenburger, and Morton discussed the various genetic diseases that they have encountered at the Clinic for Special Children – showing us specific diseases and family pedigrees. I loved the course and was fascinated and in awe of their work with the Amish and Menoninte families in Lancaster.
This semester, I began my own independent study at the clinic. I was eager to apply my undergraduate biochemistry knowledge in the field of medicine. If you know me then you know that I secretly love to study and understand the secrets behind molecular biology, genetics, and disease– this was a chance for me to apply my understanding and learn much more. After some initial research and many conversations with Dr.Strauss, we decided that for my research I could investigate the risk of contracting meningococcal disease associated with the digenic inheritance of properdin and mannose binding lectin deficiency. This disorder has severely impacted several families – with some of the cases leading to the death of young men that contracted meningitis.
Last week, I had the opportunity to meet with the women that carried the properdin genetic deficiency and the men that had it. Seeing and extending the pedigree for the x-linked genetic disorder of the family members – the men, women, and children – sitting before me – made me feel so different about every single thing I have learned during my time as a biochemistry and molecular biology major at Franklin and Marshall. Sitting next to me was the mother of two boys that had passed away from contracting Meningococcal disease before the family had realized that they had this genetic deficiency. The pedigree was no longer just symbols showing the genetic mode of inheritance. Each circle and square represented a person struggling with a genetic disorder or a person with a loved one that had the deficiency. I realized the impact that the doctors and researchers at the clinic were having on these families. As I was then standing at the front (even with my fear of public speaking) – explaining some new research regarding their disorder made me realize the impact that I could one day have too.
The power of knowledge and research can make such an impact on the life of others. My biochemistry studies here – though have been centered on the molecular level – have always had an underlying human connection that I did not realize. In these few short weeks, I have had the experience to witness first hand the incredible power that scientific research can have on the health of individuals. I know that I am eager to enter a profession, as a physician and researcher, that is able to connect cutting edge science to the people that could benefit from it the most – just like my mentors at the Clinic for Special Children have been doing for year.
Mona! This is great. Congrats on what sounds like a great independent project..can’t wait to hear more. We had a rep from the Clinic for Special Children come in to speak to our Developmental Psych class, and the work that he shared with us was absolutely captivating. Keep making a difference! Love, Val
Val! Thanks! I can’t wait to tell you more about it and more importantly hear about everything going on in your life! Skype soon? <3 xoxox
Mona, continue to be enthusiastic about your studies – great job! Are urea cycle disorders discussed or studied as well? A family member of mine has ornithine transcarbamylase (OTC) deficiency, and x-linked genetic disorder.
Thanks Chris.
The clinic has done extensive research on over a hundred inherited metabolic disorders. In my quick search, I wasn’t able to find any specific research regarding OTC, but that doesn’t mean that they haven’t had patients with the deficiency. If you are interested on what the clinic’s research has consisted of – this would be a great starting place: http://www.clinicforspecialchildren.org/CSC/Research.html
Thanks for reading!
20 years ago (tells you something about my age, doesn’t it? LOL!), I had a good friend, Sara Fisher, who was Old Order Amish. She worked with Johns Hopkins researchers by introducing them to Amish families she knew in Lancaster County. She had a wonderful, slightly twisted sense of humor–she very slyly admitted that every time she took a Johns Hopkins researcher to meet with a family, she would choose a new, circuitous route to their home, in order to confuse and confound the researchers–”I take them 5 different ways, so that they always will need me to get there,” was the laughing comment she would make.
Sadly, Sara has passed away. I miss her and her wonderful stories and humor.
Thanks for sharing.
لپ تاپ Well done
thanks so much for sharing