John Martignetti, MD, PhD, and Olga Camacho-Vanegas, PhD, Awarded Grant from Liddy Shriver Sarcoma Initiative

New York, NY (PRWEB) February 01, 2013

Two cancer genetics researchers at the Icahn School of Medicine at Mount Sinai have received a grant from the Liddy Shriver Sarcoma Initiative to support promising research on a genetic mutation in hereditary bone cancer called osteosarcoma.

John Martignetti, MD, PhD and Olga Camacho-Vanegas, PhD discovered that mutations in newly described and previously unknown forms of the methylthioadenosine phosphorylase (MTAP) gene result in hereditary osteosarcoma and Malignant Fibrous Histiocytoma (MFH)two rare bone cancers that usually affect children, adolescents and young adults.

Osteosarcoma and MFH are treated with a combination of aggressive therapies, but a significant number of patients deal with disease relapse and progression. With support from the Liddy Shriver Sarcoma Initiative Grant, the scientists hope to find out why MTAP mutations result in cancer and how common they are, then evaluate MTAP as a therapeutic target.

Our goal is to evaluate how common MTAP mutations are in bone cancer and determine their therapeutic relevance, said Dr. Martignetti, who is Associate Professor of Genetics and Genomics Sciences; Oncological Sciences; and Pediatrics at the Graduate School of Biomedical Sciences at Mount Sinai. We are honored to be recognized by the Liddy Shriver Sarcoma Initiative, and hope our efforts will lead to improved therapies for individuals with osteosarcoma.

The work that led to this study began with Dr. Martignetti’s encounter with a family when he was a Pediatric Resident at Mount Sinai in which several members had a rare bone disease and bone cancer. This led Dr. Martignetti and his research team to identify six other families throughout the world, unrelated to the first family, with the same condition. Genetic studies revealed a common link among all the families and patientsmutations in a region of the MTAP gene which arose from ancient retroviruses in the human genome – a completely novel finding in cancer genetics.

We knew that the MTAP gene was relevant in other types of cancer, but the mutations in this gene are markedly higher in bone cancer than we expected, said Dr. Camacho- Vanegas, Assistant Professor of Genetics and Genomic Sciences. This indicates that currently available chemotherapies and novel drugs that target MTAP may benefit patients with this type of cancer.

Bruce D. Shriver, PhD, Director of the Research Grants Program at the Liddy Shriver Sarcoma Initiative, said, We are pleased to support the research of Drs. Martignetti and Camacho-Vanegas and hope that it will lead to important and useful contributions to the treatment of Osteosarcoma and Malignant Fibrous Histiocytoma (MFH) of the bone.

According to the Liddy Shriver Sarcoma Initiative, sarcoma is a cancer of the connective tissues, such as nerves, muscles, and bones. Sarcomas can arise anywhere in the body and are frequently hidden deep in the limbs. They are often misdiagnosed and assumed to be sports injuries or benign bumps. Sarcomas are rare tumors, comprising less than one percent of adults’ cancers and nearly 21 percent of children’s cancers.

The Liddy Shriver Sarcoma Initiative was founded in 2003. Its mission is to improve the quality of life for people dealing with sarcomas around the world. The Initiative increases public awareness of sarcoma, raises funds to award research grants, and provides support and timely information to sarcoma patients, their families, and medical professionals. These efforts are achieved through collaboration with numerous individuals and organizations that share a similar vision.

This $ 50,000 grant was made possible by a generous donation from Laura Somerville and by donations from Julie Gordon of Brandons Defense Foundation (in Memory of Brandon Gordon), Lori Brasic of Soccer Round the Clock (in honor of Logan Brasic), Kim Pidgeon of Sarahs Garden of Hope (in memory of Sarah Pidgeon) and from the friends and families of Jonah Chrisman and Sara Corbelli, both of whom lost their lives to osteosarcoma.

About The Mount Sinai Medical Center

The Mount Sinai Medical Center encompasses both The Mount Sinai Hospital and Icahn School of Medicine at Mount Sinai. Established in 1968, the Icahn School of Medicine at Mount Sinai is one of the leading medical schools in the United States. The Icahn School of Medicine is noted for innovation in education, biomedical research, clinical care delivery, and local and global community service. It has more than 3,400 faculty members in 32 departments and 14 research institutes, and ranks among the top 20 medical schools both in National Institutes of Health (NIH) funding and by U.S. News & World Report.

The Mount Sinai Hospital, founded in 1852, is a 1,171-bed tertiary- and quaternary-care teaching facility and one of the nations oldest, largest and most-respected voluntary hospitals. In 2012, U.S. News & World Report ranked The Mount Sinai Hospital 14th on its elite Honor Roll of the nations top hospitals based on reputation, safety, and other patient-care factors. Mount Sinai is one of just 12 integrated academic medical centers whose medical school ranks among the top 20 in NIH funding and by U.S. News & World Report and whose hospital is on the U.S. News & World Report Honor Roll. Nearly 60,000 people were treated at Mount Sinai as inpatients last year, and approximately 560,000 outpatient visits took place.

For more information, visit

Find Mount Sinai on:


Twitter @mountsinainyc


# # #

Leave a Reply