My research focuses on neuroendocrine cancer genetics. Neuroendocrine tumors can form in the gut, the pancreas, the lung, the adrenal gland and in nerve bundles, called paraganglia, throughout the body. Most of my work has focused on a specific neuroendocrine tumor type in the adrenal gland and paraganglia, called pheochromocytoma/paraganglioma. Endocrine cancers are unique in that they often make excess hormones which can lead to many problems. The pheochromocytomas/paragangliomas tumors for example, often make excessive adrenaline hormone and patients can feel as though they are always “revved up” so to speak. Patients can have high blood pressure, rapid and sometimes irregular heartbeats, sweating, headaches, tremors, anxiety, flushing, and many other symptoms. And some patients with this type of tumor have no symptoms at all. I am interested in understanding what genetic changes occur in the tumors that can predict prognosis and what changes may be targets for personalized therapies. Unfortunately, there are no great research models of neuroendocrine tumors – including no good animal or cell culture models. Therefore, I have been using cutting edge techniques of next generation sequencing of the tumors from patients to understand the genetic make-up of the tumors and look for clues or markers for prognosis and treatment.
Neuroendocrine tumors are often cured with surgery. But a significant percentage of patients will develop metastatic disease, meaning it spreads throughout the body, and then in this case, the tumor often cannot be cured by surgery. Sometimes the metastatic disease can occur many years after the original tumor was removed, and we often have no way to predict when or if this will happen. Luckily, we have treatments to offer patients which usually can stabilize the tumors and patients can live a long time; but we have very little to offer in terms curing the disease. My research goal is to identify genetic and genomic markers or clues to predict which tumors will become metastatic and how we might be able to better treat and hopefully cure the cancer.
We will be successful when we can analyze the tumors and predict which will become metastatic and then prevent that from happening. And if metastatic disease does happen, we would like to have specific treatments to cure patients from neuroendocrine tumors.
I grew up in Miami, Florida. I went to college at Vassar College in Poughkeepsie, NY and was a biochemistry major. It was during college in the mid-1990s when I read an interesting article about the possibility of personalized medicine, where treatments for any disease might be tailored to match a person’s genetic makeup – this was before they had sequenced the whole genome – and I thought this concept fascinating!
It was this article that inspired me to apply for MD, PhD programs with the goal of working in cancer genetics. I did my MD, PhD at the University of Florida in Gainesville, FL and went on to complete an Internal Medicine residency at Harvard’s Beth Israel Deaconess Medical Center in Boston, MA. I then completed my Endocrinology fellowship at the University of Pennsylvania in Philadelphia, PA where I began to study neuroendocrine tumors. After my fellowship, I completed a Master’s in Translational Research at Penn as well.
Through the next generation sequencing of pheochromocytomas, I was the first to discover that a subset of these neuroendocrine tumors have mutations in a particular gene called ATRX, and the tumors with these mutations are associated with more aggressive disease. This was very interesting because this gene also is mutated or altered in a subset of pancreatic neuroendocrine tumors and in another related cancer called neuroblastoma. This meant that we had a genetic link between different neuroendocrine tumors. If we understand the functional consequence of this mutated gene in tumors, we can hopefully enhance our knowledge about prognosis and treatment of pheochromocytomas and many other neuroendocrine tumors as well.
I am still excited by the potential of personalized medicine, now called precision medicine. This concept can apply not only to cancer but many other medical conditions where in the future we can treat people with certain medications and not others based on their genetic make-up. This will allow us to offer individualized care and not lump all people with the same condition together. We have a long way to go to make this a part of everyday medical care, but there are examples of this being done now in many different fields of medicine.
There are many things about CU Anschutz that made me excited to come here. From the first time I visited the CU Anschutz Medical Campus, I was impressed with the collaborative spirit I felt from everyone I met. This is so important in medical research, and I am happy that this first impression has held true since I moved here. In addition, the Endocrinology Division at CU has several researchers focusing on endocrine cancer research which is not common for an Endocrine Division. I appreciated the fact that I would have like-minded people around me. Furthermore, there is a strong Medical Oncology, Surgical Oncology and Endocrine Surgery group focused on the clinical treatment of patients with neuroendocrine tumors and conducting clinical trials in neuroendocrine tumors. This was important for me to have collaborators for my translational research. Finally, I was excited by the new initiative in Bioinformatics and Personalized Medicine here which would support the genetic and genomics work that I do.
I am personally very grateful to have received some private support to facilitate my transition to CU Anschutz and help my research in neuroendocrine tumors to continue. Federal funding sources are tight these days, especially for early career researchers. Private support, such as that I received, helps to fund cutting edge research and also helps to support the next generation of researchers to sustain the biomedical research pipeline.
Private support and philanthropy is critical to support biomedical research, especially for rare diseases and cancers such as neuroendocrine tumors. Although these tumors are rare, the patients and their families dealing with them want and deserve better treatments and hopefully cures . Especially in a time when federal funding is tight, private support is critical to keep biomedical research moving