NCC Professor Publishes Research on Rare Diseases

Professor Beatriz Villar is engaged in ongoing international collaborations.

Professor Beatriz Villar

Northampton Community College (NCC) Professor Beatriz Villar has published two scientific papers, a result of international collaborative research.  “Sudden Intense, Unexpected and Negative Emotions are a Reactivation Factor in Herpes Zoster” was published in the Journal of Critical Cases and Reports (November 2018), and “McArdle’s Disease (Glycogen Storage Disease type V): a Clinical Case” was published in in the Archives of Case Reports (December 2018). 

The reports are a part of an ongoing international collaboration to research rare diseases and are a part of a broader project to create awareness in the medical community about rare diseases and syndromes that, when unknown or untreated for years, can create preventable complications and suffering for patients if diagnosed earlier with a simple blood or genetic test. The researchers’ goal is to provide information to medical communities to decrease the number of unreported cases and to improve patient care. “Often, the parents of a child suffering one of these rare diseases are the ones reaching out to us to tell their story, so that other children with the same conditions won’t have to suffer for so many years without the right diagnosis and/or treatment,” Villar says.  The collaborators are also making movies about rare conditions.

Villar says that rare diseases are the hardest to diagnose by their nature, complicating patients’ progress.  For instance, she is now working on a case of Prader-Willi Syndrome, a condition in which cognitive, behavioral and physical and psychological changes can be mistaken for other disorders.  

“I believe that community education is very important, and that this implies educating not only the parents of the affected individuals, but also the community around him/her, including other family members and of course the physicians and individuals working at medical centers,” Villar says.  “We learn mostly by experience, and the problem with rare diseases is that they don’t show very often and they are not usually in the minds of the doctors when a patient comes to see them. With these series of articles and films we want to contribute to create awareness and educate.”

Villar’s collaborators include Dr. Jorge Cameselle, a specialist in family medicine and pathology and the director of the research team in clinical oncology for ADICAM, a non-profit community organization in Spain devoted to breast cancer prevention and community education, and  Lidia Rojo, a scientist and educator at the University of Vigo, in Spain.

Beatriz Villar teaches genetics and several biology courses, for majors and non-majors, at Northampton Community College’s Monroe Campus.