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UC Davis Medicine

UC Davis Medicine

A Q+A with Katherine Rauen

Katherine Rauen"Simply, my patients drive me, not only to provide them the best medical care but to develop best practices so that others can care for patients with RASopathies."

Katherine Rauen joined UC Davis Health System in the beginning of 2014 as head of the Division of Genomic Medicine in the Department of Pediatrics and is affiliated with UC Davis MIND Institute and UC Davis Children’s Hospital. She recently received the 2013 Presidential Early Career Award for Scientists and Engineers, the highest honor bestowed by the United States government on science and engineering professionals in the early stages of their research careers.

Q: Your research and clinical activities focus on a group of medical genetic syndromes that affect about one in every 1,000 people. What are they and how do they affect individuals?

A: The set of syndromes I study are called RASopathies – these syndromes are caused by small genetic mutations that affect a very critical pathway called the Ras/MAPK pathway. These mutations affect people differently. An individual might be born with some minor changes in craniofacial features such as low-set ears, or their eyes may be spaced a little wider apart than is commonly seen in the general population. Sometimes a baby might be born with a specific type of heart defect, or they might be born with an enlarged heart. Some children have problems with feeding more than is typical in the newborn stage.

Neurofibromatosis Type 1 was the first RASopathy syndrome identified, and during the past few years "cousin" syndromes have been identified. These include Noonan syndrome, which is also relatively common, affecting about one in 1,000 individuals; Costello syndrome, which is due to genetic alteration in the HRAS gene; cardiofaciocutaneous syndrome (CFC), which is caused by alterations in the BRAF, MEK1 or MEK2 genes; capillary malformation-arteriovenous malformation syndrome; Legius syndrome; and others.

Q: How are RASopathies treated?

A: Right now, we focus on managing the manifestations of the syndromes as we continue to conduct research that can lead to clinical trials and improvement in debilitating effects. Moving toward clinical trials and treatment in medical genetic syndromes such as RASopathies is right around the corner, if not here. RASopathies, in particular, are ideal candidates for treatment because the genetic alteration is part of the very well-studied Ras/MAPK pathway. We know, for instance, many small molecule inhibitors already exist that potentially could be used in individuals to help make them stronger, to help them feed better, or to help perhaps decrease enlargement of their heart.

Q: What led you to focus on this area of research and treatment?

A: Perhaps the biggest game changer for me was meeting a group of families in the summer of 2001 whose children had Costello syndrome. Families and a handful of physicians came together for a Costello Syndrome Family Network conference in Toronto. Although I had been very interested in CFC and Costello syndromes when I was a fellow in medical genetics, it was having all these families and kids come together, and seeing how they all cared for one another, and wanted to help each other and support each other. That changed the entire direction of my career. I wanted to help, too.

Q: What drives you?

A: Simply, my patients drive me, not only to provide them the best medical care but to develop best practices so that others can care for patients with RASopathies. RASopathies are a new field of medicine, and I want to take what we learn in the lab and what we learn in our clinical translational research and change medical practice for the better.

UC Davis Medicine > Fall 2014 > Features

Fall 2014

Fall 2014 Issue Cover
Fall 2014 Issue

UC Davis Children's Hospital promotes a lifetime of health

A Q+A with Katherine Rauen

Katherine Rauen, UC Davis geneticist