Category: DIPG News

Olivia Boccuzzi earns her wings on Monday August 20th, 2012

 

Everyone at the Cristian Rivera Foundation would like to express our condolences to the family of Olivia Boccuzzi, a beautiful girl who earned her wings this past Monday, August 20, 2012 after battling against a brain stem tumor for exactly 11 months. From the moment of her diagnosis, her parents Frank and Enza never gave up hope. They were close friends to The Cristian Rivera Foundation. During their search to help their daughter, they met John Rivera, father of Cristian Rivera and he informed them about Dr. Mark Souweidane & his work associated with children’s brain tumors. Dr. Souweidane met the Boccuzzi’s and he ended up performing a biopsy on the tumor. Olivia had a brain stem tumor but it could not be determined whether it was DIPG or not. This delightful young girl loved dancing like a ballerina, watching Dora the Explorer and playing with her 4-year-old brother James. Olivia was full of energy and love. She is a pioneer in the world of DIPG. Rest in Peace, Olivia. We will never forget your beautiful spirit.

5-year-old Valentina Bravin earns her wings

 

 

Everyone at the Cristian Rivera Foundation would like to express our condolences to the family of Valentina Bravin, a beautiful 5-year-old girl who earned her wings this past Thursday, July 12th after battling DIPG for almost 1 year. From the moment of her diagnosis, her parents Eric and Christina never gave up hope, and with the help of Valentina’s grandfather, they started the Friends of Valentina foundation to raise money for medical expenses. Friends of Valentina was able to hold a few fundraisers on Valentina’s behalf last fall, raising thousands of dollars to greatly ease the family’s financial burden. Valentina was a student at St. Luke’s nursery school in Farmingdale, NY, and was an avid lover of ballet, ice skating, and Barbie dolls. Known to the world for being a fighter, Valentina brought hope to lots of people, including John “Gungie” Rivera, the founder of the Cristian Rivera Foundation, who featured Valentina as a Child With Hope at the 3rd Annual Cristian Rivera Foundation Gala last September. Rest in Peace, Valentina. We will never forget your beautiful spirit.

Mesenchymal Transition and PDGFRA Amplification/Mutation Are Key Distinct Oncogenic Events in Pediatric
Diffuse Intrinsic Pontine Gliomas

“Two distinct transcriptional subclasses of DIPG with specific genomic alterations can be defined at diagnosis by oligodendroglial differentiation or mesenchymal transition, respectively…..Patients in this later group had a significantly worse outcome with an hazard ratio for early deaths, ie before 10 months, 8 fold greater that the ones in the other. The worse outcome of patients with the oligodendroglial type of tumors was confirmed on a series of 55 paraffin-embedded biopsy samples at diagnosis (median overall survival of 7.73 versus 12.37 months.”

Free Full Text- http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0030313
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Mesenchymal Transition and PDGFRA Amplification/Mutation Are Key Distinct Oncogenic Events in Pediatric Diffuse Intrinsic Pontine Gliomas. PLoS One. 2012;7(2):e30313. Epub 2012 Feb 28.Puget S, Philippe C, Bax DA, Job B, Varlet P, Junier MP, Andreiuolo F, Carvalho D, Reis R, Guerrini-Rousseau L, Roujeau T, Dessen P, Richon C, Lazar V, Le Teuff G, Sainte-Rose C, Geoerger B, Vassal G, Jones C, Grill J.

Source
Department of Neurosurgery, Necker-Sick Children Hospital, University Paris V Descartes, Paris, France.

Abstract
Diffuse intrinsic pontine glioma (DIPG) is one of the most frequent malignant pediatric brain tumor and its prognosis is universaly fatal. No significant improvement has been made in last thirty years over the standard treatment with radiotherapy. To address the paucity of understanding of DIPGs, we have carried out integrated molecular profiling of a large series of samples obtained with stereotactic biopsy at diagnosis. While chromosomal imbalances did not distinguish DIPG and supratentorial tumors on CGHarrays, gene expression profiling revealed clear differences between them, with brainstem gliomas resembling midline/thalamic tumours, indicating a closely-related origin. Two distinct subgroups of DIPG were identified. The first subgroup displayed mesenchymal and pro-angiogenic characteristics, with stem cell markers enrichment consistent with the possibility to grow tumor stem cells from these biopsies. The other subgroup displayed oligodendroglial features, and appeared largely driven by PDGFRA, in particular through amplification and/or novel missense mutations in the extracellular domain. Patients in this later group had a significantly worse outcome with an hazard ratio for early deaths, ie before 10 months, 8 fold greater that the ones in the other subgroup (p = 0.041, Cox regression model). The worse outcome of patients with the oligodendroglial type of tumors was confirmed on a series of 55 paraffin-embedded biopsy samples at diagnosis (median OS of 7.73 versus 12.37 months, p = 0.045, log-rank test). Two distinct transcriptional subclasses of DIPG with specific genomic alterations can be defined at diagnosis by oligodendroglial differentiation or mesenchymal transition, respectively. Classifying these tumors by signal transduction pathway activation and by mutation in pathway member genes may be particularily valuable for the development of targeted therapies.

Fairfield woman cuts hair to raise awareness
for disease, honor fallen son

Randy Hill a barber at J’s Barber Shop in Suisun City puts the finishing touches on Danah Jewett of Fairfield, California who has the words Cure and DIPG shaved into the back of her had on Thursday, March 8, 2012 to raise awareness into DIPG, a rare non-operable brain tumor that took the life of her son, Dylan in January of 2009, less than two-months after he was diagnosed. Joel Rosenbaum/jrosenbaum@thereporter.com

Weary of grieving, a young Fairfield mom who lost a son to brain stem cancer three years ago took a bold step Thursday in her journey toward healing — she shaved her head.

And embedded two important words on the newly buzzed canvas — CURE DIPG.

“As fun as all this is, it’s really about the kids. Remembering Dylan and honoring the kids,” emphasized Danah Jewett, 34, as she fingered her spiky new do compliments of Randy Hill at J’s Barber Shop off Sunset Avenue in Suisun City. Touched by her cause, Hill donated his services.

Jewett’s son, 5-year-old Dylan, died of the rare and inoperable Diffuse Intrinsic Pontine Glioma (DIPG) in 2009 just two months after his diagnosis.

Randy Hill a barber at J’s Barber Shop in Suisun City shaves the words “Cure” and “DIPG” into the hair of Danah Jewett of Fairfield on Thursday. Her son, Dylan, died of the rare brain tumor in January of 2009, less than two-months after he was diagnosed. (Joel Rosenbaum/JRosenbaum@TheReporter.com)

Not much is known about the condition, so the family donated Dylan’s brain tumor to Stanford University School of Medicine for further research. His cells were the first living specimen of DIPG in the world and resulted in significant discoveries, including the cell of origin. By understanding which cell causes the tumor, Jewett said, scientists can further understand the disease.

Dylan’s mom hopes to bring more awareness of the disease, as well as of the courageousness of all children who are living with cancer.

“My job, as Dylan’s mother, is to make sure his memory lives on, raise awareness about this deadly cancer and tell others about DIPG, and hope that funding will somehow become available,” she said. “Children are dying and there is a way to make it stop.” Still coming to terms with her own loss, Jewett sponsored the inaugural “Dylan’s Warriors Prayer Walk” in Vacaville’s Lagoon Valley Park last September. A sequel is planned for this September, complete with run/walk T-shirts and giveaways of gold and gray ribbons representing childhood cancer and brain cancer. Details will be revealed by June or July.

In recent months, Jewett’s heart has remained heavy. Her family, which includes husband John, who is stationed at Travis Air Force Base, and a son, 4-year-old Jayden, encouraged her to do more for herself. So she did, literally using her head as a tool.

Visiting her hairstylist at “Twisted” in Fairfield, Jewett had her long brown locks separated into 56 braids. Friends and family donated $10 or more per braid for cancer research and, beginning on the anniversary of Dylan’s death, she began cutting one braid each day. Meanwhile, she also communed with her faith, delved deep into herself and prayed for renewal.

Randy Hill a barber at J’s Barber Shop in Suisun City shaves the words “Cure” and “DIPG” into the hair of Danah Jewett of Fairfield on Thursday. Her son, Dylan, died of the rare brain tumor in January of 2009, less than two-months after he was diagnosed. (Joel Rosenbaum/JRosenbaum@TheReporter.com)

“I wanted to seek an intimate relationship with God, just think of God and Dylan, what Dylan meant to me,” she explained. “I wanted a process for it, I wanted more than to shave it off and it’s over.”

By having “CURE DIPG” nearly carved into her head, Jewett said there’s no way that she won’t generate notice for the condition. Her braids had already caused a mild sensation — the new hairdo is likely to generate an explosion.

“This year is about Dylan, remembering him, honoring him, about DIPG and what it stole from us,” she said. “I want people to think about things, about kids with cancer. It’s just so amazing, what they go through.”

Even children have asked about DIPG, Jewett said, recalling a 9-year-old girl at church who was so inspired by Jewett’s hair that she gave her a $5 donation and pledged to do more to help.

Thus far, Jewett has raised about $400 for Lucile Packard Children’s Hospital for DIPG research and plans to donate her hair to Locks of Love, an organization that makes wigs for cancer patients.

For more information, go online to www.curedipg5.com or www.facebook.com/curedipg.

www.thereporter.com/rss/ci_20137032?source=rss

BY KIMBERLY K. FU/ KFU@THEREPORTER.COM

 

Race funds cancer research

The Fifth Annual Race For Grace will be held March 31 at Norwin High School. The race, which includes a five-kilometer run, five-kilometer walk and a one-mile walk, will benefit the Reflections Of Grace Foundation.

The race and the foundation it benefits are named for Grace Elizabeth Ekis, a 5-year-old who died on Valentine’s Day 2008 after a 13-month battle with a rare brain tumor, according to the foundation’s website, run by Brian and Tamara Ekis, Grace’s parents.

The foundation provides financial, educational and emotional support to the families of children with brain cancer.

Grace’s cancer was a diffuse intrinsic pontine glioma, or a tumor of the brainstem that has no known cure and for which no advances in treatment options have been made for more than 30 years, according to the website.

The website describes it as one of the worst forms of childhood brain cancer. Approximately 150 to 200 children are diagnosed with this type of tumor each year, and survival time is typically nine to 12 months.

In 2011, the race had 1,800 registered runners and walkers, 300 volunteers and 300 spectators, and raised more than $88,000 for the families of children with brain cancer.

That was an increase in funds raised from 2010, when 2,000 attended and more than $70,000 was raised for the families of children with brain cancer.

Opening activities for the 2012 race will begin at 7 a.m. March 31, and the race itself will start at 9 a.m. at the high school at 251 McMahon Drive, North Huntingdon.

Registration fees will be $25 for adults and $20 for children age 12 and younger. A waiver must be signed for each participant, regardless of age.

The Reflections Of Grace Foundation is a nonprofit organization; www.reflectionsofgrace.org.

www.post-gazette.com/pg/12068/1215118-56.stm?cmpid=neighborhoods.xml

By Anne Cloonan

Coins For The Cure: Village Elementary School Raises Funds For Pediatric Brain Cancer Research

Coins For The Cure: Village Elementary School Raises Funds For Pediatric Brain Cancer Research

Coronado’s Village Elementary School Student Council representatives presented a check for $379 to the McKenna Claire Foundation, a foundation dedicated to finding the cause and the cure for Pediatric Brain Cancer. The fund drive was part of the student council’s year-long project to raise money and awareness for underfunded issues that impact children.

Each month, the Village Elementary Student Council selects a different cause to support. January’s cause was pediatric brain cancer. Previous months focused on juvenile diabetes and pulmonary hypertension. March will be dedicated to raising money for the Coronado Schools Foundation. For every cause, the student council decorates and distributes classroom “coin” jars, collects and counts the money, posts signs around campus and encourages students to learn more about these very important issues.

Student council advisors, Ms. Shady, Ms. Garner, and Mr. Elderson, encourage students to build community and support philanthropic efforts. All three teachers emphasize that this project has been completely student driven, making it even more special. Fifth graders, Jack Outlaw and George Farley, raised the idea of supporting the McKenna Claire Foundation. Both said they heard McKenna’s story and wanted to help other children.

McKenna, a vivacious, seemingly healthy, 7-year-old from Huntington Beach was suddenly diagnosed with a rare, inoperable brain stem tumor called Diffuse Intrinsic Pontine Glioma (DIPG). DIPG tumors, like many pediatric brain tumors, have very low survival rates. In July 2011, McKenna Claire lost her battle with cancer just six months after diagnosis.

The McKenna Claire Foundation’s mission is to cure pediatric brain cancer by raising awareness, increasing community involvement and funding research. One of the foundation’s near-term objectives is to raise money for innovative research being conducted at Stanford University’s Monje Lab. Using cell cultures from children who have donated their tumors to research, including McKenna Claire, the Monje Lab is dedicated to understanding how DIPG tumors originate, the molecular signals that drive their growth, and novel ways to treat DIPG.

To learn more or donate visit: mckennaclairefoundation.org. For more information about the Monje Lab please visit: http://neurology.stanford.edu/labs/monjelab.

Charlotte Christian freshman crowned Miss Mecklenburg

Charlotte Christian-Payton Walker-Miss Mecklenburg. Photo courtesy of Charlotte Christian.

Charlotte Christian freshman Payton Walker was named the 2012 Miss Mecklenburg Outstanding Teen Jan. 21. The program is part of the Miss America scholarship pageant.

Payton will spend the next year participating in community service in the area and will represent Mecklenburg County in the Miss North Carolina Outstanding Teen Pageant, to be held in June in Raleigh.

Payton’s platform will include raising awareness about diffuse intrinsic pontine glioma, a rare pediatric brain cancer. Payton is at the top of her class at Charlotte Christian, where she serves as a student ambassador and student government president.

http://www.charlotteobserver.com/2012/02/03/2982413/charlotte-christian-freshman-crowned.html

By Lauren Bailey

Showing ‘Love for Lexi’

CASS CITY — The Cass City community and surrounding area are gathering Saturday (today) to show their ‘Love for Lexi.” A benefit dinner and auction is planned, beginning at 2 p.m. at the Cass City High School to benefit the family of Lexi Smith, a six-year-old diagnosed with an inoperable brain tumor.

“We’re just very grateful and very appreciative for what everyone has done,” said Heidi Smith, Lexi’s mother. “We’ve just been overwhelmed with gratefulness.” Heidi and her husband Randy have stepped away from their jobs, Heidi’s in the office at Erla’s Foods and Randy’s at Axly Production Machining in Bad Axe so the pair can spend more time with their daughter.

Lexi Smith

“We decided to stay home and spend as much time with her as possible,” she said. “We have a lifetime of memories to make in a short amount of time.” Lexi was diagnosed with Diffuse Intrinsic Pontine Giloma (DIPG) in early December 2011. DIPG is a tumor located in the middle of the brain stem that connects the cerebrum with the spinal cord.

The tumor is extremely rare, affecting only 150 to 200 children each year.

According to Reflections of Grace, a foundation supporting families of children diagnosed with DIPG, over 90 percent of children diagnosed with the tumor aren’t expected to live longer than 18 months.

Heidi Smith said her daughter initially came to her one morning, unable to put three fingers up together. Concerned, they took Lexi to the hospital, where a cat scan came back clear.

Heidi said she still had a bad feeling about it, and they took her to a hospital in Saginaw where she talked with their pediatric neurologist.

“We had an MRI scheduled for the following Wednesday, but by Thursday her symptoms had worsened and we went back in for an emergency MRI,” Smith said.

That is when doctors were able to diagnose Lexi’s condition and she was sent to U of M Mott Children’s Hospital to begin radiation.

After six weeks of aggressive radiation, Lexi is now home with her family and her symptoms have decreased.

“She had weakness on her left side, it was difficult for her to walk and she had difficulty seeing on her left side,” Smith said. “All these symptoms have decreased, she’s able to walk and her sight is back.”

Unfortunately, Smith said this type of tumor is very aggressive and could come back even worse within months.

“When it comes back it comes back hard and very aggressive,” she said. “In her case they think it will recur in three months.”

Smith said that is why it is so important for them to spend as much time now as they can with their daughter.

To help the family with costs, the spaghetti dinner benefit will be a $7 donation per adult and $3 per child 12 years of age and under.

The benefit will include live music and there will be a silent auction from 2-6 p.m. A live auction will begin at 6 p.m. while the movies “Dolphin Tale” and, if time permits, The Smurfs will be played for kids. Popcorn and juice will be offered during the movie.

“There’s quite a bit going on,” said Shari Bock, coordinator of the event. “Lexi is a Girl Scout member, so the Girl Scouts will be having a bake sale.

“We’re going to have arts and crafts set up so the kids can make Valentine’s Day cards for Lexi.”

The Cass City Schools superintendent Jeff Hartel will be selling 50/50 tickets with a drawing at 5:45 p.m., and Johnny Burke from 96.1 WHNN donated a flat screen TV that will be raffled off.

The event is sponsored by Thrivent Financial for Lutherans, Women’s Life Chapters 848 and 877, Cass City Lions Club, Cass City Public Schools and Erla’s Foods.

http://www.tuscolatoday.com/index.php/2012/02/03/showing-love-for-lexi/

CONGRESSIONAL TESTIMONY

This Testimony is Embargoed Until Thursday, February 2nd at 9:00 AM

Please visit: http://waysandmeans.house.gov/committeesubmissions/ and submit your comment for the record. There are many of us out there who have suffered as the result of losing our child and then having a thief take our kids’ social security numbers. Please consider submitting a comment.

FROM: Jonathan Eric Agin, Esq.
TO: House Ways and Means Committee, Subcommittee on Social Security
DATE: February 2, 2012
RE: H.R. 3475

Good morning Mr. Chairman and members of the Committee. Thank you for allowing me to be here today to testify on this issue of vital importance.

My family’s story begins with the diagnosis of our amazing daughter, Alexis Gina Agin, with a terminal brain tumor at the age of two on April 10, 2008. Ultimately, this terrible disease took her life on January 14, 2011, just two weeks shy of her fifth birthday. Alexis was and is my hero. Fighting valiantly until the end, she has inspired thousands around the world with her journey.

In 2010, my wife and I travelled with Alexis up and down the East Coast trying several experimental treatments, in a desperate attempt to save her. With each trip, Alexis’ medical bills mounted. When it came time to file our 2010 taxes, compiling all of our receipts for the medical expenses was time-consuming and emotionally draining. Accordingly, my wife and I, through our accountant, filed with the IRS for an extension. In October 2011, after completing the difficult and grueling task of finalizing our 2010 taxes, I received a telephone call from our accountant advising us that someone had already filed a tax return for 2010 using Alexis’ social security number. Beyond being completely stunned at that very moment, we were advised that we would not be able to file an electronic return. Instead, our accountant would have to complete the paper forms and file them in the traditional manner. More importantly for purposes of HR 3475, he told us that we ultimately would have to prove that our deceased daughter was, in fact, our daughter. In situations involving this type of criminal fraud, the IRS credits the first filer and presumes that the initial filing is accurate.

That same day, we reached out to the community of grieving cancer parents that we have come to know since April 2008 and told them what had happened. With incredulous amazement, we learned within a single hour of no fewer than fourteen other families whose children had died and also had experienced the additional travesty of their child’s social security number being stolen. Clearly we were not alone. We then learned through our own research and from other parents that this is, in fact, a very widespread issue impacting parents who lose a child due to any and all reasons imaginable.

Not surprisingly, when I first learned that Alexis’ social security number had been fraudulently used, I wanted to know how someone could have found it. Within a matter of seconds on the internet, I was able to locate her complete social security number and other personal identifying information, including her birth and death dates, on several websites intended for genealogical research. I immediately contacted one of the services, who directed This Testimony is Embargoed Until Thursday, February 2nd at 9:00 AMme to the service’s outside counsel. When I asked the attorney to remove my daughter’s personal information from the website, he advised me that the service was within its legal rights to display the information and that it refused to remove her social security number. The attorney cited as support for their position a 1980 consent judgment between the United States Government and a private citizen, Ronald Perholtz. It was at that point that we truly realized how significant this problem is, and more importantly, how the federal government is partly to blame. It is my belief that the federal government is responsible for providing identity thieves the information required to commit this costly crime. By affording widespread access to this type of information, the federal government provides the perfect platform for the commission of this crime.

The common denominator in this story is the Death Master File (hereinafter “DMF”). The Social Security Administration makes the DMF available to the National Technical Information Service (NTIS) of the Department of Commerce, who then sells the DMF to private and public sector customers, including government agencies, financial institutions, investigative entities, credit reporting organizations, genealogical researchers and other industries. Some of these purchasers, namely organizations hosting websites aimed at facilitating genealogical research, then make available the DMF for free to the public at large. It therefore is available to nearly anyone and perpetuates identity theft and fraud against the federal and state governments at astronomical levels. As a taxpayer and parent of a child who passed away from cancer, I am outraged at the most private information of our children being made commercially available. Not only is this a significant invasion of my child’s privacy, but it adds to the tremendous grief that my wife and I live with on a daily basis and will continue to live with for the rest of our lives. While it may seem trivial to some, Alexis’ social security number is one of the only things that we have left of her identity. Thus, the theft of it robbed us of something truly priceless.

Due to an ongoing media probe and public pressure, the IRS for the first time recently responded to inquiries on this issue, and estimated that there were approximately 350,000 fraudulent tax filings in 2010. According to IRS officials, these fraudulent filings claimed $1.25 billion in refunds.1 The cost to the federal government to investigate and prosecute that magnitude of fraud could be spent in much better ways, including research to fund cures for our children.

In addition, it is worth noting that the federal government discloses far more information than is required under the 1980 settlement. In June 2008, the Inspector General of the Social Security Administration issued a critical report detailing how publication of the DMF has resulted in the breach of citizens’ personally identifiable information.2 The report concludes that the Social Security Administration “discloses far more detailed personal information in the DMF than required under the original consent judgment that resulted in the creation of the DMF. Under the terms of the agreement, SSA was to compile a list that identified deceased numberholders’ SSNs, surnames and dates of death. However, SSA expanded the information published in the DMF to include the decedent’s date of birth, first and middle name, and last known residential state/zip code.”3 The report’s conclusion is simple: less information should be released, and greater efforts at accuracy and protection must be taken.

Significantly, Ronald Perholtz, the man who filed the lawsuit that led to the 1980 consent judgment resulting in creation of the DMF, sought release of the information to help reduce fraud. Specifically, he wanted the information as a tool for pension companies to identify theft of pension benefits. Soon after learning the DMF was created, Mr. Perholtz learned that the DMF frequently listed the social security numbers of people who were not, in fact, dead.4 Now, he believes that changes need to be made in order to stop this type of fraud. Indeed, Mr. Perholtz stated that he is willing to renegotiate the original settlement as he feels so strongly that the DMF is being abused.5

H.R. 3475 is a solution to a significant problem that affects not only grieving parents, but also every family who loses a loved one. It also is a solution to a problem that was never anticipated, and would eliminate dissemination by the federal government of extraneous information that it is not required to release. This additional information, along with the readily accessible nature of individuals’ social security numbers, has provided identity thieves an avenue to commit this crime and defraud the taxpayers and government.

Those who argue that the release of this information is critical to combat fraud and conduct genealogical research fail to understand that this Bill is not intended to prevent or limit the lawful use of Social Security Numbers or genealogical research. First, I would say to any individual conducting genealogical research, why do you need to know my daughter’s social security number? Why should it be publicly available to anyone with a computer? What purpose does her full social security number, along with her birth and death dates, address, and other personal identifying information have for your familial research? The clear answer is that it has absolutely no purpose. Alexis didn’t die a long time ago—she died last year. While it may be difficult to find information about your ancestors from generations ago, it should not be hard to confirm your familial connection (or lack thereof) to someone born just six years ago.

More importantly, this Bill will not prevent credit bureaus and financial institutions from fulfilling their charge of protecting us from fraud. To the contrary, because access to this information will be more restricted, these institutions will be more empowered knowing that the potential incidence rates of identity theft and fraud will be curtailed. Potentially far fewer instances of fraud against lawful citizens will be committed, thus reducing the amount of investigation necessary. The intent of this legislation is not to limit or prohibit financial institutions from investigating fraud; rather it is to prohibit the widespread publication and easy access of personal information that is utilized by criminals to defraud the government. As for hospitals and other institutions who claim to utilize the DMF to determine if their patients are deceased, I submit that there are other far less destructive methods to make such determinations and conduct your research. Again, this Bill is not aimed at those who have a legitimate need for access to individuals’ social security numbers and they will continue to have access to this information.

I have been told that in most cases, the government does not have the resources to prosecute this crime. It either is too costly, or the government simply does not have the ability to track and punish those who are stealing from it and taxpayers alike. If this crime was prevented, to the best extent possible upfront with this simple measure, there would be little concern regarding the cost to prosecute as more resources could be made available, stiffer penalties proscribed and additional deterrents fully understood.

In closing, this is not a victimless crime. My daughter is a victim. She was victimized twice. Once by the cancer that stole her from this earth, and then by a cold-hearted criminal who stalked her and utilized her death for profit. It disgusts me to no end to know that someone prayed upon my daughter’s death for his or her own gain. It is an added insult for a grieving parent. It is nothing short of a despicable crime and the release of Alexis’ complete social security number and other personal identifiers to the general public facilitated this crime. But this simply is not an emotionally charged issue, as some argue. Fraud is not something that we simply should accept as a necessary consequence of easy access to information. Yes, security breaches will always be possible regardless of the measures that we put into place. But when there is a simple fix to a significant problem that affects all taxpayers, the fix should be taken seriously and enacted with haste. It is time that this loophole is closed and this legislation is the manner in which to accomplish this aim. Nothing short of this will accomplish the task. It is simple and to the point, and in this era when our government is struggling to find ways to save money for the taxpayer, it is a very easy fix with little to no consequences or repercussions to citizens of this country.

Thank you Mr. Chairman and distinguished members of the Committee.
Jonathan Eric Agin

1 Dale McFeatters, Govt. shares blame as ID theft worsens, available athttp://bostonherald.com/news/opinion/op_ed/view/2011_1105govt_shares_blame_as_id_theft_worsens (November 5, 2011).

2 Office of the Inspector General, Social Security Administration, Personally Identifiable Information Made Available to the General Public Via the Death master File, Audit Report A-06-08-18042 (June 2008).

3 Id. at 6.

4 Thomas Hargrove, Social Security ‘Death File’ designed to fight fraud but now aids it, available at www.scrippsnews.com (November 14, 2011).

5 Id.

Cancer sequencing initiative discovers mutations tied to aggressive childhood brain tumors

St. Jude Children’s Research Hospital – Washington University Pediatric Cancer Genome Project provides first evidence linking cancer to mutations in genes involved in DNA organization

Researchers studying a rare, lethal childhood tumor of the brainstem discovered that nearly 80 percent of the tumors have mutations in genes not previously tied to cancer. Early evidence suggests the alterations play a unique role in other aggressive pediatric brain tumors as well.

The findings from the St. Jude Children’s Research Hospital – Washington University Pediatric Cancer Genome Project (PCGP) offer important insight into a poorly understood tumor that kills more than 90 percent of patients within two years. The tumor, diffuse intrinsic pontine glioma (DIPG), is found almost exclusively in children and accounts for 10 to 15 percent of pediatric tumors of the brain and central nervous system.

“We are hopeful that identifying these mutations will lead us to new selective therapeutic targets, which are particularly important since this tumor cannot be treated surgically and still lacks effective therapies,” said Suzanne Baker, Ph.D., co-leader of the St. Jude Neurobiology and Brain Tumor Program and a member of the St. Jude Department of Developmental Neurobiology. She is a corresponding author of the study published in the January 29 online edition of the scientific journalNature Genetics.

DIPG is an extremely invasive tumor that occurs in the brainstem, which is at the base of the skull and controls such vital functions as breathing and heart rate. DIPG cannot be cured by surgery and is accurately diagnosed by non-invasive imaging. As a result, DIPG is rarely biopsied in the U.S. and little is known about it.

Cancer occurs when normal gene activity is disrupted, allowing for the unchecked cell growth and spread that makes cancer so lethal. In this study, investigators found 78 percent of the DIPG tumors had alterations in one of two genes that carry instructions for making proteins that play similar roles in packaging DNA inside cells. Both belong to the histone H3 family of proteins. DNA must be wrapped around histones so that it is compact enough to fit into the nucleus. The packaging of DNA by histones influences which genes are switched on or off, as well as the repair of mutations in DNA and the stability of DNA. Disruption of any of these processes can contribute to cancer.

Researchers said that the mutations seem unique to aggressive childhood brain tumors.

“It is amazing to see that this particular tumor type appears to be characterized by a molecular ‘smoking gun’ and that these mutations are unique to fast-growing pediatric cancers in the brain,” said Richard K. Wilson, Ph.D., director of The Genome Institute at Washington University School of Medicine in St. Louis and one of the study’s corresponding authors. “This is exactly the type of result one hopes to find when studying the genomes of cancer patients.”

The results are the latest from the PCGP, an ambitious three-year effort to sequence the complete normal and cancer genomes of 600 children with some of the most poorly understood and aggressive pediatric cancers. The human genome includes the complete set of instructions needed to assemble and sustain human life. The goal is to identify differences that explain why cancer develops, spreads and kills. Researchers believe the findings will provide the foundation for new tools to diagnose, treat or prevent the disease.

For this study, researchers sequenced the complete normal and cancer genomes of seven patients with DIPG. “The mutations were found at such high frequency in the cancer genomes of those seven patients that we immediately checked for the same alterations in a larger group of DIPGs,” Baker said. When researchers sequenced all 16 of the related genes that make closely related variants of histone H3 proteins in an additional 43 DIPGs, they found many of the tumors contained the same mistakes in only two of these genes.

Of the 50 DIPG tumors included in this study, 60 percent had a single alteration in the makeup of theH3F3A gene. When the mutated gene was translated into a protein, the point mutation led to the substitution of methionine for lysine as the 27th amino acid in this variant of histone H3 protein. Another 18 percent of the DIPG patients carried the same mistake in a different gene, HIST1H3B.

Researchers are now working to understand how mutations in H3F3A and HIST1H3B impact cell function and contribute to cancer. Earlier research provides some clues. The lysine that is mutated is normally targeted by enzymes that attach other molecules to histone H3, influencing how it interacts with other proteins that regulate gene expression, Baker said. Mutations in the enzymes that target histone H3 have been identified in other cancers, but this is the first report showing a specific alteration of histones in cancer.

H3F3A and HIST1H3B were also mutated in other aggressive childhood brain tumors, glioblastoma, that develop outside the brain stem. Of 36 such tumors included in this study, 36 percent carried one of three distinct point mutations in the genes. The alterations included another single change in the makeup of H3F3A not found in DIPGs.

The histone H3 genes, however, were not mutated in any of the 252 other childhood tumors researchers checked for this study. The list included the brain tumors known as low-grade gliomas, medulloblastomas and ependymomas plus other cancers outside the brain and nervous system. The H3 changes have not been reported in any other cancers, including adult glioblastoma. “This suggests these particular mutations give a very important selective advantage, particularly in the developing brainstem and to a lesser degree in the developing brain, which leads to a terribly aggressive brain tumor in children, but not in adults,” Baker said.

“This discovery would not have been possible without the unbiased approach taken by the Pediatric Cancer Genome Project,” Baker said. “The mutations had not been reported in any other tumor, so we would not have searched for them in DIPGs. Yet the alterations clearly play an important role in generating this particular tumor.”

The study’s first authors are Gang Wu, Alberto Broniscer and Troy McEachron, all of St. Jude. The study’s other corresponding authors are Jinghui Zhang and James Downing, both of St. Jude. The other study authors are Charles Lu, Li Ding and Elaine Mardis, all of Washington University; and Barbara Paugh, Jared Becksfort, Chunxu Qu, Robert Huether, Matthew Parker, Junyuan Zhang, Amar Gajjar, Michael Dyer, Charles Mullighan, Richard Gilbertson and David Ellison, all of St. Jude.

The research was funded in part by the PCGP, including Kay Jewelers, a lead project sponsor; the National Institutes of Health, the Sydney Schlobohm Chair of Research from the National Brain Tumor Society; the Cure Starts Now Foundation, Smile for Sophie Forever Foundation, Tyler’s Treehouse Foundation, Musicians Against Childhood Cancer, the Noyes Brain Tumor Foundation and ALSAC.

St. Jude Children’s Research Hospital
Since opening 50 years ago, St. Jude Children’s Research Hospital has changed the way the world treats childhood cancer and other life-threatening diseases. No family ever pays St. Jude for the care their child receives and, for every child treated here, thousands more have been saved worldwide through St. Jude discoveries. The hospital has played a pivotal role in pushing U.S. pediatric cancer survival rates from 20 to 80 percent overall, and is the first and only National Cancer Institute-designated Comprehensive Cancer Center devoted to children. It is also a leader in the research and treatment of blood disorders and infectious diseases in children. St. Jude was founded by the late entertainer Danny Thomas, who believed that no child should die in the dawn of life. Join that mission by visiting www.stjude.org or following us on www.facebook.com/stjude and Twitter@StJudeResearch.

Washington University School of Medicine
Washington University School of Medicine’s 2,100 employed and volunteer faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Children’s hospitals. The School of Medicine is one of the leading medical research, teaching and patient care institutions in the nation, currently ranked fourth in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Children’s hospitals, the School of Medicine is linked to BJC HealthCare.
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