Transforming Health Care through Innovative and Impactful Research

Elizabeth Henske, M.D. (Text Version)

2024 RCRP Vignette

Title: A Catalyst for Collaboration

Lisa Henske, M.D., Harvard University, Rare Cancers Research Program Programmatic Panel Chair

The most important thing about the Rare Cancers Research Program is that it's allowing many rare cancers to be studied for the very first time to understand their molecular and genetic basis and to move forward research that will lead to effective treatments and ultimately cures for these cancers. Many types of funding for cancer research require that you already have progress. So how do you make that first step? How do you get a foothold in understanding what the cause might be? And one of the types of research that we support through the Rare Cancer Research program is specifically designed to help get that first step of information that then can catalyze many other research initiatives and breakthroughs.

It's possible that the cures are sitting right there, but we don't know because we don't have enough information about the biology of the tumors. We need those first steps and then we need to push that forward to the point where a clinical trial could be done. We feel very, very optimistic that we can achieve that through this program.

Rare cancer research often unlocks the cause of more common cancers. We've seen this again and again. And rare cancer research is a win/win because it obviously benefits the individuals who have those rare cancers, but it also many times benefits individuals who have more common causes of cancer. One of the best examples of this is a form of kidney cancer that occurs in individuals who have a very rare hereditary disease called von Hippel Lindau disease. Individuals who have von Hippel Lindau disease have a very high risk of kidney cancer because of a mutation in a particular gene that they inherit. And it turns out that individuals who get kidney cancer, who don't have von Hippel Lindau also almost always have mutations in the same gene for this particular type of kidney cancer called the clear cell type of kidney cancer. Now that's led to therapies for individuals who have kidney cancer who don't have von Hippel Lindau, and also led to the awarding of the Nobel Prize in Medicine for the discovery of how the von Hippel Lindau protein regulates cell growth and leads to tumor formation. So that's just one of many examples of this win/win by studying a rare cancer that often has a specific genetic starting point, we then can make breakthroughs that apply to cancer that occurs in everyone else.

We really emphasize the sharing of resources and data - that's critical for all kinds of cancer research, but especially critical for rare cancer research, because an individual in one institution, for example, may have just a few tumors to study of one type and may want to and need to collaborate with someone at another institution who has additional tumors of the same type. We really want to bring people together to provide that synergy and collaborative energy that will drive things forward. We want to move as quickly as possible to fast track the research toward patient benefit.

I've been involved with the CDMRP for quite a few years. So I've had the chance to see these programs from more than one perspective, both to set the vision and move things forward in rare diseases, including rare cancers, and also to seeing the benefit for rare cancer research in my own laboratory from these grants that really have helped us get the work started to move toward really meaningful therapies.