Meet Krizelle: A #PinoyScientist living with a rare disease

Neurofibromatosis, or NF, is a rare genetic disorder that causes tumors to form on nerve tissue including the brain and spinal cord. Krizelle Alcantara, a young Filipino researcher in the United States, knows this by heart as she is a person living with NF, more specifically NF Type 2.

Prior to entering college, Krizelle was determined to pursue a course in the biomedical field. This was further bolstered after getting her NF2 diagnosis on the same year that she applied for college. Since her diagnosis, she has undergone surgeries and radiation therapy sessions but these have affected her hearing in her right ear.

Krizelle completed her bachelor’s and master’s degree in Molecular Biology and Biotechnology (MBB) at the University of the Philippines Diliman. While studying the molecular bases of genetic diseases, Krizelle realized that much remains to be studied about her condition and how can it be treated. Thus, she focused on investigating the molecular background of NF, particularly the regulation of the Neurofibromin 2 gene. Krizelle explained that neurofibromatosis causes little bumps to grow in the body that shouldn’t be there. This happens because what normally stopping them, such as the Neurofibromin 2 gene which has a tumor suppressor function, is broken or missing.

Krizelle is also part of the NF Friends Philippines, an online support group for Filipinos with NF. From there she met her late friend, Kcat Yarza, the first person with NF2 that she ever met and the person who established the NF community in the Philippines. Due to complications from her NF2 tumors, Kcat passed away in July 2019.

 

 

In the community, a recurring question that she had received was “May gamot po ba para sa neurofibromatosis?”. Sadly, the answer to that question is no. In one of her #PinoyScientists feature posts, Krizelle noted that answering this question inspired her to make use of her unique position as an NF2 patient and a scientist-in-training to help bridge that gap in NF2 scientific/clinical knowledge and promote awareness for this genetic disorder.

Krizelle still continues to work towards understanding her own disease – this time, by developing a treatment for NF2 by gene replacement therapy. At present, she is a research scholar of Ohio State University and a research assistant at the Center for Gene Therapy at the Nationwide Children’s Hospital in Ohio, USA. She noted that the goal in gene therapy is to replace a defective gene by adding or introducing beneficial genes to treat or prevent disease.

Aside from being a researcher, she is also one of the Philippine NF2 volunteer ambassadors and a current scientific advisory board member of NF2Biosolutions (NBS), a volunteer-run non-profit organization solely dedicated to finding an effective treatment for NF2. NBS was founded by Dr. Nicole Henwood, a Pennsylvania-based physician and a mother of an NF2 patient. NBS collaborates with three research laboratories in the US to accelerate gene therapy research for NF2. The Meyer Lab in Ohio, where Krizelle is currently working, is among the partners of NBS.

Krizelle also shared the inspiration that she gets from being part of the scientific and rare disease community in one of her #PinoyScientists posts. “When I first considered pursuing research in Neurofibromatosis Type 2 and became part of the scientific community, I just wanted to do what I can while I can for those who can’t. The amazing thing is that being in rare disease research allowed me to connect more with the NF community both in the Philippines and all over the world. As an NF2 patient myself, what I learned is that although NF2 is rare, I am not alone. The resilience and strength that I’ve witnessed in these people, some of whom have looked death itself in the eye, inspires me to keep fighting and keep living. These friends whom I’ve met in the neurofibromatosis community are the reason why continue to pursue science to help #EndNF.”

 

*This article was prepared from the posts that Krizelle wrote in the @PinoyScientists Instagram account, a social media platform for Filipino scientists in the Philippines and around the globe. Krizelle was featured from May 31 to June 6, 2020.