Welcome!

News Feed Item

After rare cancer diagnosis, teen works to identify a genetic link to her own disease

The New York Genome Center and The Rockefeller University's finding of a mutation that is present in 15 out of 15 patients suggests new opportunities for diagnosis and treatment of cancer, and leads to a high profile Science publication

NEW YORK, Feb. 28, 2014 /PRNewswire-USNewswire/ -- A father-daughter scientific collaboration that began after the daughter was diagnosed with a rare liver cancer has led to an important finding and could have broader implications for many other rare cancers. Their story is being published this week in a top tier journal, Science.

Teenage cancer survivor Elana Simon, 18, in her father's Rockefeller University lab, where she worked to uncover an unusual mutation that is strongly linked to her own rare disease, fibrolamellar hepatocellular carcinoma. The discovery, made in conjunction with researchers at Rockefeller, Memorial Sloan Kettering Cancer Center and the New York Genome Center, led to a high-profile publication in Science and suggests new opportunities for the diagnosis and treatment of several types of cancer.

Elana Simon, the daughter of Rockefeller University professor Sanford Simon, received a devastating cancer diagnosis at age 12 — a rare and often deadly type of liver cancer called fibrolamellar hepatocellular carcinoma. Like many rare adolescent cancers, it is not well understood because research funding typically goes to more common cancers. But four years after her surgery, in which most of her liver was removed, she began interning in a biology lab, and came up with a new idea for understanding the genetics behind her own tumor.

"I reasoned that it would be easier to identify genetic mutations in the tumors of young patients than it is in older ones, because in older people, their genomes have been altered by years of aging and environmental factors," says Elana Simon, an 18-year-old senior at the Dalton School who will attend Harvard this fall. "Also, in an adolescent, a tumor has not been around for very long, so the tumor itself will have less time to accumulate mutations. When we identify a possible mutation in an adolescent, it is much more likely that it's driving the cancer."

Elana also wanted to sequence the entire genome, 3 billion base pairs long, rather than just the shorter exome, which is the more manageable section that is often tackled. But the teen's comfort with computer science and her drive to unlock the mystery of her own cancer compelled her to take on the challenge.

Meanwhile, to obtain as large a collection of tissue as possible, Elana reached out to other patients asking them to contribute their tissues, extracted during surgery, to a repository set up at Rockefeller. Together with other patients and their family members she started a website to serve as repository for what little knowledge there was about fibrolamellar cancer. Though they lacked federal funding, the father-daughter team sought and received support in the form of private gifts from the Fibrolamellar Cancer Foundation and several individual donors whose lives have been touched by the disease, in addition to support from the Howard Hughes Medical Institute, the New York Genome Center, The Rockefeller University Center for Clinical and Translational Science and through a gift to The Rockefeller University by an anonymous donor.

Elana worked in her father's lab after school and during breaks. In a collaboration involving the Simon Laboratory at The Rockefeller University, a Memorial Sloan Kettering Center surgeon who originally treated her, Michael P. LaQuaglia, and a team of computational biologists at the New York Genome Center (NYGC), the genetic data from 15 patients' tumors was analyzed and one abnormality was discovered that really stood out. All 15 patients had a piece of DNA that had been broken and rejoined, creating a new, mutated gene — called a chimera — that would potentially wreak havoc in the bodies of people who had it.

"We discovered chimeric RNAs in the tumor samples — made when DNA deletions create unnatural products that can drive cancer," says Nicolas Robine, co-first author and NYGC Computational Biologist. "This chimera had never been seen before, so we believe it will help drive the work of our Rockefeller colleagues and Elana's future. It is the NYGC's mission to undertake such collaborative genomic studies that will accelerate medical advances."

"If you tell a twelve year old that they have to leave school and their friends to go to the hospital and get most of their liver removed, their first question is going to be why?" says Elana. "Being raised by a scientist my first instinct was to try to understand as much of it as my young brain could handle. However, I was disappointed to find that nobody was really able to answer my question. Fibrolamellar was a mystery to me, and, as I soon realized, a mystery to doctors and scientists as well. What was even worse was that nobody seemed to be making progress on it, as the cancer didn't affect enough people for it to get significant attention. Someone had to do something about this disease, and since nobody else was going to, I decided to take it upon myself."

"These results were extremely encouraging," says Sanford Simon, head of the Laboratory of Cellular Biophysics and the study's senior author. "It is uncommon for a genetic screen for a cancer to turn up such a strong candidate mutation, and for the mutation to be present in every single patient tested."

The lab is now working on testing the effects of the chimera on human liver cells and in mouse livers, to further elucidate its role in the disease.

"The hope is that we'd be able to screen the blood for the presence of this chimera, and patients wouldn't have to wait until the tumors are present, until it might be too late to do something about it," says Sanford Simon. "Also, often with these types of discoveries, the genetic mutation turns out to be connected to other rare cancers. Many of the molecular changes we are observing are much more reminiscent of specific forms of breast cancer than liver cancer."

"NYGC is thrilled to have this work be our first published example of the explosive power of collaborations between deeply invested biologists like those in the Simon lab including Elana Simon, and thoughtful bioinformatics scientists like Nicolas Robine and NYGC team, who worked together so effectively with the tools of genomic sequencing and analysis to discover this new chimeric protein and cancer target," says Robert Darnell, head of Rockefeller's Laboratory of Molecular Neuro-Oncology, HHMI Investigator, and President and Scientific Director of NYGC. "The work done serves as an exemplar for how the power of interdisciplinary and inter-institutional genomic science has the potential to save people's lives in New York and beyond."

"I've never understood why I was so lucky in my experience with cancer while so many others have it much worse than I did," says Elana. "But I happened to get diagnosed in a time when these new sequencing technologies were really starting to flourish. I was in the perfect environment, at the right time, with the right motivation to take advantage of these technologies. All of the pieces fit together and it seemed inevitable that this was a field I was going to explore — a mystery I had to solve."

"I want everyone out there with rare diseases to know that it's really up to the patients to motivate progress and now we actually can do so. When I was first diagnosed with fibrolamellar, it seemed like no one cared about the disease," Elana says. "No one knew anything about it or what to do with it. That's what compelled me to take the science into my own hands. There are amazing advances in biomedical science being made every day. Further, new technologies are making it possible for us to share our information to help identify and understand our diseases. Through these, there is hope for cures that previously would have been considered miracles."

About The Rockefeller University

Founded by John D. Rockefeller in 1901, The Rockefeller University was this nation's first biomedical research institution. Hallmarks of the university include a research environment that provides scientists with the support they need to do imaginative science and a truly international graduate program that is unmatched for the freedom and resources it provides students to develop their capacities for innovative research. The Rockefeller University Hospital, founded in 1910 as the first center for clinical research in the United States, remains a place where researchers combine laboratory investigations with bedside observations to provide a scientific basis for disease detection, prevention and treatment. Since the institution's founding, Rockefeller University has been the site of many important scientific breakthroughs. Rockefeller scientists, for example, established that DNA is the chemical basis of heredity, identified the weight-regulating hormone leptin, discovered blood groups, showed that viruses can cause cancer, founded the modern field of cell biology, worked out the structure of antibodies, devised the AIDS "cocktail" drug therapy, and developed methadone maintenance for people addicted to heroin. Throughout Rockefeller's history, 24 scientists associated with the university have received the Nobel Prize in physiology/medicine and chemistry, and 21 scientists associated with the university have been honored with the Albert Lasker Medical Research Award. Five Rockefeller University scientists have been named MacArthur Foundation Fellows, and 20 have garnered the National Medal of Science. Currently, the university's award-winning faculty includes five Nobel laureates, seven Lasker Award winners and three recipients of the National Medal of Science. Thirty-four of the faculty are elected members of the National Academy of Sciences. For more information, go to www.rockefeller.edu.

About the New York Genome Center

The New York Genome Center (NYGC) is an independent, nonprofit at the forefront of transforming biomedical research and clinical care with the mission of saving lives. As a consortium of renowned academic, medical and industry leaders across the globe, NYGC focuses on translating genomic research into clinical solutions for serious disease. Our member organizations and partners are united in this unprecedented collaboration of technology, science, and medicine. We harness the power of innovation and discoveries to improve people's lives - ethically, equitably, and urgently. Member institutions include: Albert Einstein College of Medicine, American Museum of Natural History, Cold Spring Harbor Laboratory, Columbia University, Cornell University/Weill Cornell Medical College, Hospital for Special Surgery, The Jackson Laboratory, Memorial Sloan-Kettering Cancer Center, Icahn School of Medicine at Mount Sinai, New York-Presbyterian Hospital, The New York Stem Cell Foundation, New York University, North Shore-LIJ, The Rockefeller University, Roswell Park Cancer Institute and Stony Brook University. For more information, visit: www.nygenome.org.

Contact:

Zach Veilleux

The Rockefeller University

212-327-8982

[email protected]

Lark-Marie Anton

New York Genome Center

646-697-7044

[email protected]

Photo - http://photos.prnewswire.com/prnh/20140228/DC74547

SOURCE The Rockefeller University

More Stories By PR Newswire

Copyright © 2007 PR Newswire. All rights reserved. Republication or redistribution of PRNewswire content is expressly prohibited without the prior written consent of PRNewswire. PRNewswire shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon.

Latest Stories
"Software-defined storage is a big problem in this industry because so many people have different definitions as they see fit to use it," stated Peter McCallum, VP of Datacenter Solutions at FalconStor Software, in this SYS-CON.tv interview at 18th Cloud Expo, held June 7-9, 2016, at the Javits Center in New York City, NY.
The cloud competition for database hosts is fierce. How do you evaluate a cloud provider for your database platform? In his session at 18th Cloud Expo, Chris Presley, a Solutions Architect at Pythian, gave users a checklist of considerations when choosing a provider. Chris Presley is a Solutions Architect at Pythian. He loves order – making him a premier Microsoft SQL Server expert. Not only has he programmed and administered SQL Server, but he has also shared his expertise and passion with b...
"Operations is sort of the maturation of cloud utilization and the move to the cloud," explained Steve Anderson, Product Manager for BMC’s Cloud Lifecycle Management, in this SYS-CON.tv interview at 18th Cloud Expo, held June 7-9, 2016, at the Javits Center in New York City, NY.
We're entering the post-smartphone era, where wearable gadgets from watches and fitness bands to glasses and health aids will power the next technological revolution. With mass adoption of wearable devices comes a new data ecosystem that must be protected. Wearables open new pathways that facilitate the tracking, sharing and storing of consumers’ personal health, location and daily activity data. Consumers have some idea of the data these devices capture, but most don’t realize how revealing and...
Unless your company can spend a lot of money on new technology, re-engineering your environment and hiring a comprehensive cybersecurity team, you will most likely move to the cloud or seek external service partnerships. In his session at 18th Cloud Expo, Darren Guccione, CEO of Keeper Security, revealed what you need to know when it comes to encryption in the cloud.
What are the successful IoT innovations from emerging markets? What are the unique challenges and opportunities from these markets? How did the constraints in connectivity among others lead to groundbreaking insights? In her session at @ThingsExpo, Carmen Feliciano, a Principal at AMDG, will answer all these questions and share how you can apply IoT best practices and frameworks from the emerging markets to your own business.
Ask someone to architect an Internet of Things (IoT) solution and you are guaranteed to see a reference to the cloud. This would lead you to believe that IoT requires the cloud to exist. However, there are many IoT use cases where the cloud is not feasible or desirable. In his session at @ThingsExpo, Dave McCarthy, Director of Products at Bsquare Corporation, will discuss the strategies that exist to extend intelligence directly to IoT devices and sensors, freeing them from the constraints of ...
You think you know what’s in your data. But do you? Most organizations are now aware of the business intelligence represented by their data. Data science stands to take this to a level you never thought of – literally. The techniques of data science, when used with the capabilities of Big Data technologies, can make connections you had not yet imagined, helping you discover new insights and ask new questions of your data. In his session at @ThingsExpo, Sarbjit Sarkaria, data science team lead ...
SYS-CON Events announced today the Kubernetes and Google Container Engine Workshop, being held November 3, 2016, in conjunction with @DevOpsSummit at 19th Cloud Expo at the Santa Clara Convention Center in Santa Clara, CA. This workshop led by Sebastian Scheele introduces participants to Kubernetes and Google Container Engine (GKE). Through a combination of instructor-led presentations, demonstrations, and hands-on labs, students learn the key concepts and practices for deploying and maintainin...
Extracting business value from Internet of Things (IoT) data doesn’t happen overnight. There are several requirements that must be satisfied, including IoT device enablement, data analysis, real-time detection of complex events and automated orchestration of actions. Unfortunately, too many companies fall short in achieving their business goals by implementing incomplete solutions or not focusing on tangible use cases. In his general session at @ThingsExpo, Dave McCarthy, Director of Products...
Cloud analytics is dramatically altering business intelligence. Some businesses will capitalize on these promising new technologies and gain key insights that’ll help them gain competitive advantage. And others won’t. Whether you’re a business leader, an IT manager, or an analyst, we want to help you and the people you need to influence with a free copy of “Cloud Analytics for Dummies,” the essential guide to this explosive new space for business intelligence.
Traditional IT, great for stable systems of record, is struggling to cope with newer, agile systems of engagement requirements coming straight from the business. In his session at 18th Cloud Expo, William Morrish, General Manager of Product Sales at Interoute, outlined ways of exploiting new architectures to enable both systems and building them to support your existing platforms, with an eye for the future. Technologies such as Docker and the hyper-convergence of computing, networking and sto...
WebRTC is bringing significant change to the communications landscape that will bridge the worlds of web and telephony, making the Internet the new standard for communications. Cloud9 took the road less traveled and used WebRTC to create a downloadable enterprise-grade communications platform that is changing the communication dynamic in the financial sector. In his session at @ThingsExpo, Leo Papadopoulos, CTO of Cloud9, discussed the importance of WebRTC and how it enables companies to focus...
With an estimated 50 billion devices connected to the Internet by 2020, several industries will begin to expand their capabilities for retaining end point data at the edge to better utilize the range of data types and sheer volume of M2M data generated by the Internet of Things. In his session at @ThingsExpo, Don DeLoach, CEO and President of Infobright, discussed the infrastructures businesses will need to implement to handle this explosion of data by providing specific use cases for filterin...
IoT generates lots of temporal data. But how do you unlock its value? You need to discover patterns that are repeatable in vast quantities of data, understand their meaning, and implement scalable monitoring across multiple data streams in order to monetize the discoveries and insights. Motif discovery and deep learning platforms are emerging to visualize sensor data, to search for patterns and to build application that can monitor real time streams efficiently. In his session at @ThingsExpo, ...