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Community => Recreation Commons => Our researchers have made a breakthrough! => Topic started by: Buster's Uncle on March 01, 2014, 02:27:32 AM

Title: Teen helps scientists study her own rare disease
Post by: Buster's Uncle on March 01, 2014, 02:27:32 AM

Teen helps scientists study her own rare disease
Teen survives rare cancer and then wants to study it, helping scientists find a gene mutation
Associated Press
By Lauran Neergaard, AP Medical Writer  14 hours ago


(http://l1.yimg.com/bt/api/res/1.2/GZLQwgc78ZymXaoqcecO0A--/YXBwaWQ9eW5ld3M7Zmk9ZmlsbDtoPTYzNztweW9mZj0wO3E9NzU7dz05NjA-/http://globalfinance.zenfs.com/images/US_AHTTP_AP_FINANCIALTIMES/309f49d62f8f0e084d0f6a706700d512_original.jpg)
This handout photo taken Tuesday, Feb. 25, 2014, provided by The Rockefeller University, shows Elana Simon, 18, of New York, pictured in a laboratory at The Rockefeller University in New York. The teen survivor of a rare liver cancer spearheaded a study, published Thursday in the journal Science, that led a team of researchers to find a gene flaw involved with the disease. (AP Photo/Zach Veilleux, The Rockefeller University)



WASHINGTON (AP) -- First the teenager survived a rare cancer. Then she wanted to study it, spurring a study that helped scientists find a weird gene flaw that might play a role in how the tumor strikes.

Age 18 is pretty young to be listed as an author of a study in the prestigious journal Science. But the industrious high school student's efforts are bringing new attention to this mysterious disease.

"It's crazy that I've been able to do this," said Elana Simon of New York City, describing her idea to study the extremely rare form of liver cancer that mostly hits adolescents and young adults.

Making that idea work required a lot of help from real scientists: Her father, who runs a cellular biophysics lab at the Rockefeller University; her surgeon at Memorial Sloan-Kettering Cancer Center; and gene specialists at the New York Genome Center. A second survivor of this cancer, who the journal said didn't want to be identified, also co-authored the study.

Together, the team reported Thursday that they uncovered an oddity: A break in genetic material that left the "head" of one gene fused to the "body" of another. That results in an abnormal protein that forms inside the tumors but not in normal liver tissue, suggesting it might fuel cancer growth, the researchers wrote. They've found the evidence in all 15 of the tumors tested so far.

It's a small study, and more research is needed to see what this gene flaw really does, cautioned Dr. Sanford Simon, the teen's father and the study's senior author.

But the teen-spurred project has grown into work to get more patients involved in scientific research. Scientists at the National Institutes of Health are advising the Simons on how to set up a patient registry, and NIH's Office of Rare Diseases Research has posted on its web site a YouTube video in which Elana Simon and a fellow survivor explain why to get involved.

"Fibrolamellar Hepatocellular Carcinoma. Not easy to pronounce. Not easily understood," it says.

Simon was diagnosed at age 12. Surgery is the only effective treatment, and her tumor was caught in time that it worked. But there are few options if the cancer spreads, and Simon knows other patients who weren't so lucky.

A high school internship during her sophomore year let Simon use her computer science skills to help researchers sort data on genetic mutations in a laboratory studying another type of cancer.

Simon wondered, why not try the same approach with the liver cancer she'd survived?

The hurdle: Finding enough tumors to test. Only about 200 people a year worldwide are diagnosed, according to the Fibrolamellar Cancer Foundation, which helped fund the new study. There was no registry that kept tissue samples after surgery.

But Simon's pediatric cancer surgeon, Sloan-Kettering's Dr. Michael LaQuaglia, agreed to help, and Simon spread the word to patient groups. Finally, samples trickled in, and Sanford Simon said his daughter was back on the computer helping to analyze what was different in the tumor cells.

At the collaborating New York Genome Center, which genetically mapped the samples, co-author Nicolas Robine said a program called FusionCatcher ultimately zeroed in on the weird mutation.

Sanford Simon said other researchers then conducted laboratory experiments to show the abnormal protein really is active inside tumor cells.

He calls it "an exciting time for kids to go into science," because there's so much they can research via computer.

As for Elana Simon, she plans to study computer science at Harvard next fall.


http://finance.yahoo.com/news/teen-helps-scientists-study-her-120746444.html (http://finance.yahoo.com/news/teen-helps-scientists-study-her-120746444.html)

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Now with a picture of a nice-looking smart girl.

Title: 18-Year-Old Survivor Helped Research Her Own Cancer, Is Now Heading To Harvard
Post by: Buster's Uncle on March 01, 2014, 04:04:56 AM

18-Year-Old Cancer Survivor Helped Research Her Own Rare Disease, Is Now Heading To Harvard
Business Insider
By Dina Spector  7 hours ago


(http://globalfinance.zenfs.com/en_us/Finance/US_AFTP_SILICONALLEY_H_LIVE/18-Year-Old_Cancer_Survivor_Helped_Research-1387ef6c21d86611e869b3a99ade62f7)
Elana Simon in the Rockefeller University lab where she conducted research on fibrolamellar cancer, the same type she was diagnosed with at age 12.  Rockefeller University



At 18, Elana Simon has beaten cancer and is even a co-author of a study about her disease, which was published Thursday in the journal Science.

Six years ago, Simon was diagnosed with a rare liver cancer, called fibrolameller. Simon's cancer was caught in time and she had surgery to remove the tumor, according to the Associated Press. But hers was a lucky case. Because the disease only affects about 200 people in the United States each year, it's not well understood, making it difficult to detect and treat.

So while still in high school, Simon took it upon herself to begin researching the difference between these tumor cells and healthy liver tissues. The teenager got help from her father, Sanford Simon, who runs a laboratory at Rockefeller University and is the study's senior author, as well as her pediatric surgeon, Michael LaQuaglia of Memorial Sloan Kettering. The New York Genome Center was also involved in the research.

Researchers obtained 15 tumor samples that had been surgically removed from people with fibrolamellar cancer and sequenced their genomes.

One mutation — which was present in all 15 patients — really popped out. It involved a piece of DNA that "had been broken and rejoined, creating a mutated gene that had the potential to wreak havoc in the bodies of individuals with the gene," according to a media release from Rockefeller University.

Researchers are now trying to understanding how the broken gene causes the tumors by testing how it changes human liver cells in the lab.

The results are encouraging, but this hardly the end of the mystery. According to the Wall Street Journal, La Quaglia says that "finding such a mutation doesn't mean it definitely causes the cancer and more research needs to be done to establish its role."

Simon, now cancer-free and finishing up her senior year in high school, plans to attend Harvard in the fall, according to the WSJ.


http://news.yahoo.com/18-old-cancer-survivor-helped-200255426.html (http://news.yahoo.com/18-old-cancer-survivor-helped-200255426.html)