Domino Effect: A Dancer Turns to Science to Help Others with Their Mobility and Function

Debbie Pittman had her sights set on being a dancer. Like many teens, Debbie didn’t originally listen to a high school teacher who urged her to pursue science, but it happened serendipitously anyways.

 

“I fell into science – I was always interested but I really wanted to be a dancer, I originally studied dance. I liked to learn and be challenged and started exploring biology and environmental science and found that I loved it. That started a slow build that led to a passion for hematology.”

 

Debbie spent her first two years at The University of Colorado as a dance major but continued to take science courses on the side, quickly expanding her realm from anatomy and physiology to upper level biology. Eventually knee injuries prevented her from pursuing a career in dance and she made the official switch to science full time.

 

“I moved to California to do a year work study program at NASA exploring how space flight affected endocrinology and stress hormones. I then moved into molecular biology, researching factor VIII, which is essential for helping the body form blood clots – the absence of factor VIII causes hemophilia A. By that point I was hooked – it was a great challenge that I loved.” 

 

Hemophilia is a rare genetic disorder that affects blood clotting and is found in roughly 400,000 individuals worldwide, affecting mostly males.¹ Hemophilia is a deficiency in the blood coagulation cascade, meaning that patients are unable to form stable blood clots to help stop bleeding when they have an injury.  

 

Now, Debbie is a research fellow in the Pfizer Rare Disease Research Unit working on early stage drug development for hematological diseases such as hemophilia and sickle cell disease. In her current role, she has the opportunity to investigate experimental new medicines to potentially help others retain their mobility and function in spite of these often limiting diseases. 

 

“Blood coagulation is a process that’s very exquisite, it’s a cascade of events.  You might think of it as a domino: the dominoes start falling but in hemophilia one of those dominoes is missing and the patient cannot stop a bleed.  Many hemophilia patients bleed into their joints, which leads to arthritis later in life. The disease can be crippling and even fatal if not treated. ”

 

Centuries ago, a child with hemophilia often would not live past thirteen years old. During the early 1900s, there was no way to store blood and the standard treatment involved frequent visits to the hospital for fresh human-to-human blood transfusions.² Even as early as 1960 patients would still need to go to the hospital to be treated for days and sometimes even weeks with fresh frozen plasma.³

 

Dr. Luis Agote (2nd from right) overseeing one of the first safe and effective blood transfusions in 1914. Dr. Agote helped pioneer a way to move from direct human-to-human transfusion to safe, non-direct  infusion using sodium citrate as an anticoagulant.⁴. Photo source: Wikipedia commons https://en.wikipedia.org/wiki/Blood_transfusion

 

Current therapies involve a replacement of the protein factor in which patients are deficient through recombinant technology, but the process still often requires multiple intravenous injections per week. Pfizer has been involved in the development of treatment options for hemophilia for over 20 years through work on recombinant proteins and other cutting edge areas of research.

 

“As a researcher, we spend a lot of time in the laboratory trying to develop new therapies.  We have lots of ideas.  We have lots of failures.  It’s not a straightforward process.  As a researcher, what drives me to go in every day is knowing that we have the potential to affect patients’ lives in a positive way. It is very humbling and reminds me how important my work is.”

 

¹Hemophilia Federation of America, “What is Hemophilia.” Accessed 3 October 2016. Available at: http://www.hemophiliafed.org/bleeding-disorders/hemophilia/

²National Hemophilia Foundation, “History of Bleeding Disorders.” Accessed 3 October 2016. Available at: https://www.hemophilia.org/Bleeding-Disorders/History-of-Bleeding-Disorders

³American Society of Hematology, “Hemophilia: From Plasma to Recombinant Factors.” Accessed 3 October 2016. Available at: http://www.hematology.org/About/History/50-Years/1524.aspx

⁴"History of blood transfusion - The Institute of Biomedical Science." IBMS. Retrieved 2016-06-14. Accessed 4 October 2016. Available at: https://en.wikipedia.org/wiki/Luis_Agote