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NF1

At Francis Collins Scholars Scientific Day

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At Francis Collins Scholars Scientific Day
It was an honor to speak at the Francis Collins Scholars Scientific Day, held at the Woman’s Club of Bethesda, MD on August 26, 2019. The event was sponsored by the Neurofibromatosis Therapeutic Acceleration Program (NTAP). Afterwards, I joined some of the meeting attendees, including many “Collins Scholars,” for a group photo. Now in its sixth year, the Francis Collins Scholars Program in Neurofibromatosis Clinical and Translational Research is helping to create a community of outstanding clinician-scientists with expertise in research and clinical care for the genetic disorder neurofibromatosis type I (NF1). It’s a condition that’s interested me for quite some time. In 1990, I led the research team that discovered the NF1 gene. Credit: Lizzy Lees Photos

2018 Collins Scholars

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Francis Collins poses with awardees at Francis Collins Scholars Scientific Symposium

Here are the 2018 Collins Scholars: Ina Ly (left), Massachusetts General Hospital and the Dana Farber Cancer Institute, Boston; and Shruti Garg, (right), Royal Manchester Children’s Hospital, United Kingdom. These young physician-scientists will receive three years of support and training through the Francis S. Collins Scholars Program in Neurofibromatosis Clinical and Translational Research. The program, now in its fifth year, is helping to create a community of outstanding clinician-scientists with expertise in research and clinical care for neurofibromatosis type I. The photo was taken at the Francis Collins Scholars Orientation Day, held at Rock Creek Mansion in Bethesda, MD on August 3, 2018. Credit: Lizzy Lees Photos


Precision Oncology: Creating a Genomic Guide for Melanoma Therapy

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Melanoma cell

Caption: Human malignant melanoma cell viewed through a fluorescent, laser-scanning confocal microscope. Invasive structures involved in metastasis appear as greenish-yellow dots, while actin (green) and vinculin (red) are components of the cell’s cytoskeleton.
Credit: Vira V. Artym, National Institute of Dental and Craniofacial Research, NIH

It’s still the case in most medical care systems that cancers are classified mainly by the type of tissue or part of the body in which they arose—lung, brain, breast, colon, pancreas, and so on. But a radical change is underway. Thanks to advances in scientific knowledge and DNA sequencing technology, researchers are identifying the molecular fingerprints of various cancers and using them to divide cancer’s once-broad categories into far more precise types and subtypes. They are also discovering that cancers that arise in totally different parts of the body can sometimes have a lot in common. Not only can molecular analysis refine diagnosis and provide new insights into what’s driving the growth of a specific tumor, it may also point to the treatment strategy with the greatest chance of helping a particular patient.

The latest cancer to undergo such rigorous, comprehensive molecular analysis is malignant melanoma. While melanoma can rarely arise in the eye and a few other parts of the body, this report focused on the more familiar “cutaneous melanoma,” a deadly and increasingly common form of skin cancer [1].  Reporting in the journal Cell [2], The Cancer Genome Atlas (TCGA) Network says it has identified four distinct molecular subtypes of melanoma. In addition, the NIH-funded network identified an immune signature that spans all four subtypes. Together, these achievements establish a much-needed framework that may guide decisions about which targeted drug, immunotherapy, or combination of therapies to try in an individual with melanoma.