The Pediatric& SDH-Deficient GIST Consortium is committed to:
Build a Consortium
Create and Expand Clinical Trials
Involve Patient Advocacy Groups
Why a Pediatric & SDH-Deficient GIST Consortium?
There is a subset of GIST which specifically affects children and young adults with a resistant form of GIST for which the current battery of drugs are not particularly effective. Since the number of these types of patients is relatively small and the nature of this subset comparatively complex, progress finding effective treatment has been difficult.
Historically, most researchers with an interest in Pediatric & SDH-Deficient GIST worked independently from other GIST researchers, with each seeing very few of these rare disease patients. The National Institutes of Health (NIH) Pediatric and Wildtype GIST Clinic was established in 2008 with the support of advocacy organizations, to bring together clinicians and patients, to begin to better understand this rare disease. After 10 successful years, this program is at a crossroads, just at a time when no standard of care for this rare disease has been defined.
Based on this need, the Life Raft Group created and convened the inaugural Pediatric & SDH-Deficient GIST Research Symposium on July 14-15th at Life Fest 2018 in Miami. The goal of the symposium was to gather key clinicians/researchers to identify KIT-independent therapies for targeting SDH-Deficient tumors in order to improve patient outcomes.
An outgrowth of the symposium was the formation of the Pediatric & SDH-Deficient GIST Consortium. The aim of the consortium is to extend and sustain the work of the NIH Clinic and other research efforts, with the ultimate goal of finding a cure through global collaboration. As patients’ survival and quality of life are dramatically impacted by this disease, it is critically urgent that the leading Pediatric & SDH-Deficient GIST experts collaborate and share data and tissue, with the goal of finding successful targeted therapies that can help keep these patients alive.
Members of The Pediatric & SDH-Deficient GIST Consortium Include Clinical/Research Partners:
Patient Advocacy Partners Include:
* Founding members
Fernanda I. Arnaldez, MD
Fernanda Arnaldez, MD, joined the Investigational Drug Branch, CTEP, in 2017 as a Physician in the Investigational Therapeutics 1 Section where she develops clinical trials within the CTEP portfolio. In addition, she is the Scientific Officer for the Experimental Therapeutics Clinical Trials Network (ETCTN) and the Early Drug Development Opportunity Program (EDDOP) Coordinator.
Her background includes oncology research in government, industry and academia. She graduated with high honors from University of Buenos Aires School of Medicine in Buenos Aires, Argentina. She completed residency training at Ricardo Gutierrez Children’s Hospital in Buenos Aires, where she served as Chief Pediatric Resident and ad-honorem attending physician. She came to the US in 2005, where she pursued further training at the University of Pittsburgh Medical Center.
Dr. Arnaldez joined the Johns Hopkins University / NCI Pediatric Oncology Training Program in 2008 and served there as Chief Clinical Fellow in 2011; at the same time, she was pursuing post-doctoral training in the Molecular Oncology Section led by Dr. Lee Helman. She specialized in Solid Tumor Oncology and became Assistant Clinical Investigator and a Sarcoma Team Member at the Center for Cancer Research (CCR) in 2012. In her laboratory, she led multidisciplinary preclinical drug discovery efforts in pediatric rhabdomyosarcoma, osteosarcoma, and Ewing sarcoma. Dr. Arnaldez then joined Novartis Pharmaceuticals Corporation, where she was a Global Clinical Leader in Oncology.
Sebastian Bauer, MD
Sebastian Bauer is an Oncologist at the West German Cancer Center, University of Duisburg-Essen, Essen, Germany. Dr.Bauer graduated from the University of Wuerzburg Medical School, Germany and received his medical oncology training at the West German Cancer Center in Essen, Germany. He completed a postdoctoral fellowship at Jonathan Fletcher’s research lab (Brigham & Women’s Hospital in Boston, MA), and now works as a medical oncologist (sarcoma program) and scientist at the West German Cancer Center in Essen. His research in GIST has focused on evaluation and validation of therapeutically relevant signaling pathways in GIST.
Sosipatros Boikos, MD
Dr. Boikos is a Medical Oncologist and Assistant Professor, Division of Hematology, Oncology & Palliative Care at Massey Cancer Center, Virginia Commonwealth University.
He earned his medical degree from the University of Crete, School of Medicine, Greece He completed residencies at Montefiore Medical Center, New York and Albert Einstein College of Medicine, New York, and completed a fellowship at Johns Hopkins Hospital, Baltimore, MD.
Dr. Boikos’ clinical interests are Sarcomas, Gastrointestinal Tumors, Neuroendocrine Tumors, Adrenal Cancer, Thyroid Cancer and Rare Tumors.
Trustee GIST Support UK
Patient Director of the PAWS-GIST Alliance UK
Patient Co-ordinator National GIST Tissue Bank
When my 15 year old daughter was diagnosed with Paediatric/Wild-type of GIST it was the worst news our family had ever received. Very little was known/available to patients with this diagnosis in the UK.
In June 2010 we attended the Paediatric, Wild-type GIST Clinic in Washington DC, hosted by Dr Su Young Kim and Dr Lee Helman. Inspired, I felt determined that UK patients should also have this facility.
Encouraged by GIST Support UK, with fundraising from families, friends, supporters and with the dedication of Dr Ramesh Bulusu, we have opened a specialist clinic for Paediatric, Adolescent, Wild-type and Syndromic GIST patients in the UK. We will shortly host our 14th PAWS-GIST Clinic at Addenbrooke’s Hospital in Cambridge.
Essential bi-products of this initiative have been the establishment of the National GIST Tissue Bank and the National GIST registry in the UK.
My beautiful daughter tragically lost her battle with this monster disease aged only twenty three.
We must continue working to improve understanding of this disease, identify specific and effective treatments and find a cure!
PAWS-GIST (Paediatric, Adolescent, Wildtype, Syndromic-GIST) Clinic 20 – 21st NOV 14
Learn more: www.pawsgistclinic.org.uk
“Finding the cure for rare GIST Cancers in Young People”
Dr. Ramesh Bulusu
Dr. Ramesh Bulusu has trained at the Beatson Oncology Centre, Glasgow, Addenbrooke’s Hospital, Cambridge and Churchill hospital, Oxford, before taking up his consultant position in Addenbrooke’s hospital in Cambridge in 2002.
Dr Bulusu is the founder/chairman of the Cambridge Gastrointestinal Stromal Tumour (GIST) Study Group and the network lead for GISTs in Cambridge. He has served as the Track leader and member of the Sarcoma Track of the American Society of Clinical Oncology Scientific Committee from 2013-2017.
Dr Bulusu is passionate about GISTs and is currently heading a national focus group PAWS-GIST (paediatric, adolescent, wild type and syndromic).
In 2014, he has established a national clinic in Cambridge for PAWS-GIST to facilitate research in this rare subgroup of GISTs.
He is actively involved in the training and education of health care professionals in the management of GISTs and has presented and lectured extensively, both nationally and internationally. He has co-authored the UK GIST guidelines in 2004, 2009 and 2017.
Ruth Casey,* PhD
Dr Ruth Casey is currently in the final stages of her PhD and is due to take up a consultant post in Endocrinology in Cambridge University NHS Foundation Trust in September 2018. Dr Casey has a specialist clinical interest in hereditary endocrine neoplasia and endocrine cancer. Her research has focused mainly on the role of succinate dehydrogenase gene mutations in tumorigenesis and has a strong translational focus. Her interest in succinate dehydrogenase deficient tumours has led to her collaboration with PAWS GIST.
Phyllis Johnson Gay
Phyllis is retired Physical Therapist and her life motto is “find the blessings in the middle of the messes.” Phyllis has fought to find answers and a cure for her daughter’s SDH deficient GIST (Carney Triad) since the diagnosis in 2004. In 2007, Phyllis started an online support group with the help of GIST Support International for pediatric GIST patients and their caregivers with this rare cancer as a means to help others while seeking support for herself and her daughter. It has provided a great service to her and to many others as well. She continued her involvement as an executive board member at GIST Support International, and she was asked to join the Pediatric Wild type/ SDH deficient consortium at the National Institute of Health as an Advocate member. Phyllis has used her medical knowledge as a Physical Therapist to help navigate all of the medical maze that exists in this disease. Although now retired, Phyllis is thankful daily that she has the experience and knowledge that came with her degree and 30 years of experience in the medical field.
While Phyllis’ daughter has had over 30 surgeries to remove tumors since 2004 with many hospitalizations and continued battles with pain and reoccurring tumors, Phyllis continues to be in awe of her daughter’s determination and achievements despite adversity. Her daughter, now 26 years old, recently graduated as a licensed Physician Assistant. Phyllis and her daughter both choose to collect and treasure memories instead of things with their family. They both have become travel junkies to facilitate those memories!
Suzanne George, MD is Assistant Professor, Medicine, Harvard Medical School, and Clinical Director, Center for Sarcoma and Bone Oncology, Dana-Farber Cancer Institute
Dr. George completed her medical training at the University of Massachusetts Medical School and completed residencies at the New England Medical Center and University of North Carolina Hospitals. Thereafter she completed a fellowship in Hematology & Oncology at the New England Medical Center.
Dr. George’s areas of expertise include soft tissue sarcoma, bone sarcomas, and gastrointestinal stromal tumor (GIST). She is actively involved in clinical research, specifically working with the Dana-Farber research team to develop and execute new clinical trials focusing on therapy for metastatic soft tissue sarcoma. She is also involved in the execution of ongoing clinical trials.
Olivier Giger,* MD
Dr. Giger completed his medical and specialty training in Switzerland and was awarded an MD at the University of Zurich. He received a PhD from the University of Liverpool for his research on epigenetic changes in the tumour stroma. He is now a University Lecturer and Honorary Consultant in Molecular- and Histopathology working in the Department of Pathology and the Haematopathology & Oncology Diagnostic Service (HODS) at Addenbrookes’ University Hospital in Cambridge. His area of expertise lies in gastrointestinal pathology and molecular pathology of solid tumours. His research interests include the tumourmicroenvironment, gastrointestinal stromal tumours and colorectal cancer.
Anthony Gill, MD
Anthony J Gill is the director of the Cancer Diagnosis and Pathology Research Group at the Kolling Institute of Medical Research, Royal North Shore Hospital, Professor of Surgical Pathology at the University of Sydney and chairman of the Australian Pancreatic Cancer Genome Initiative (APGI). He performs research in Cancer Diagnosis, Pathology, Cell Biology, Cancer Research and Molecular Biology. Dr. Gill is a surgical pathologist with particular research interests in hereditary cancer syndromes, endocrine pathology and gastrointestinal pathology with a special emphasis on pancreaticobiliary pathology.
John Glod, MD
As a member of the Pharmacology and Experimental Therapeutics section of the NCI Pediatric Oncology Branch, Dr. Glod’s research program focuses broadly on developing new therapies for the treatment of pediatric cancer patients with a focus on rare solid tumors. Dr. Glod has expertise in the management and treatment of patients with rare tumor predisposition syndromes including multiple endocrine neoplasia type 2B and germline succinate dehydrogenase deficiency. He is the NCI principal investigator (PI) for a natural history study of patients with MEN2B and a single institution study of guadecitabine in SDH-deficient GIST, paraganglioma, and renal cell cancer as well as other early phase studies in pediatric oncology.
Eyal Gottlieb,* MSc, PhD
Eyal Gottlieb, a professor and Director of the Cancer Metabolomics Lab at the Technion-Israel Institute of Technology, is an internationally renowned expert in the field of metabolomics – measuring components of metabolism in cells under different conditions. Metabolism of cancer cells differs from that of normal cells and varies according to the type of tumor, and therefore metabolomics makes it possible to accurately distinguish between healthy cells and cancer cells. The applicable implications are clear: identifying and attacking cancer cells selectively without harming the healthy cells around them.
Michael Heinrich,* MD
Michael Heinrich, M.D. is currently a Professor of Medicine in the Departments of Medicine and Cell, Developmental, and Cancer Biology at Oregon Health Sciences University Knight Cancer Institute in Portland, Oregon. He earned his medical degree from the Johns Hopkins University School of Medicine and completed both his Internal Medicine residency and Hematology and Medical Oncology fellowship at OHSU. His primary research interest is in the development of novel tyrosine kinase inhibitors for treatment of human cancers. Dr. Heinrich’s research includes both pre-clinical identification of novel molecular targets and testing of new agents in the laboratory and the clinic. A major focus of Dr. Heinrich’s research activities and clinical practice is the development of new treatments for patients with advanced GI stromal tumors.
Lee Helman,* MD
Professor of Pediatrics and Medicine, Keck School of Medicine, USC
Head, Basic and Translational Research
Children’s Center for Cancer and Blood Diseases
Children’s Hospital of Los Angeles
Lee J. Helman received his M.D. from the University of Maryland School of Medicine magna cum laude and was elected to Alpha Omega Alpha. He completed his internship and residency in internal medicine at Barnes Hospital, Washington University. Dr. Helman completed training in medical oncology at the National Cancer Institute (NCI). He did his post-doctoral training in the Molecular Genetics Section, Pediatric Branch, NCI, and then became Head of the Molecular Oncology Section, Pediatric Oncology Branch, NCI. He served as Chief of the Pediatric Oncology Branch from 1997-2007 and as Scientific Director for Clinical Research in the Center for Cancer Research, NCI, from 2007 to 2016. He joined Children’s Hospital Los Angeles (CHLA) and the University of Southern California (USC) in 2017 as professor of Pediatrics and Medicine at the Keck School of Medicine and director of Basic and Translational Research within the Children’s Center for Cancer and Blood Diseases at CHLA and is a member of the USC Norris Comprehensive Cancer Center. He was elected to the American Society for Clinical Investigation and the American Association of Physicians and is a founding member and past president of the Connective Tissue Oncology Society. He received the 2011 ASCO Pediatric Oncology Award and is a Fellow of ASCO. Dr. Helman was the inaugural chair of the Pediatric Oncology Working Group of AACR. He serves as a vice chair of the Scientific Advisory Committee of Stand Up To Cancer, a scientific partner to the AACR. Dr. Helman’s laboratory work focuses on the biology and treatment of rhabdomyosarcoma, Ewing’s sarcoma, osteosarcoma, and pediatric GIST tumors. Major areas of research include the pathophysiologic consequences of IGF signaling, identification of the molecular/biochemical determinants of the biology of sarcomas, and the application of functional genomics to identify new treatment targets.
Katherine Janeway, MD.
Katie Janeway received her MD from Harvard Medical School in 2000 and a Masters of Medical Science from Harvard Medical School in 2008. She completed her residency in Pediatrics at Boston Children’s Hospital, where she later served as Chief Resident. Dr. Janeway then completed her fellowship in Pediatric Hematology-Oncology at Dana-Farber Cancer Institute/Boston Children’s Hospital, where she was also Chief Fellow.
Dr. Janeway is Associate Professor of Pediatrics at Harvard Medical School. She is the Director of Clinical Genomics and of the Pediatric Solid Tumor Program at Dana Farber Cancer Institute. Her research focus is applying cancer genomics to the pediatric oncology clinic and identifying central oncogenic mechanisms, novel drug targets and new therapeutics for sarcomas, malignancies in particular need of scientific and clinical advances. She has published important manuscripts on the genomic landscape of osteosarcoma and pediatric GIST. As Vice Chair of the Children’s Oncology Group Bone Tumor Committee, she helps set priorities for clinical investigation, and guides protocol development for collaborative trials in Ewing sarcoma and osteosarcoma. She has important roles on national committees charged with bringing the power of genomic characterization to patient care such as her role as the co-chair of the target and agent prioritization committee for the National Cancer Institute Pediatric MATCH study.
Jonathan Keith Killian,* MD, PhD
Dr. Killian is Senior Pathologist and Associate Medical Director at Foundation Medicine. He also serves as the lead pathologist on the partnership with Genentech to develop comprehensive gene expression profiling assays for clinical trial use. Notable prior translational medicine achievements include working with clinicians from the NIH Pediatric Gastrointestinal Stromal Tumor (GIST) clinic to discover the bimodal molecular pathologic mechanism of GIST tumorigenesis, whereby reciprocal epigenetic and genetic inactivation of succinate dehydrogenase (SDH) explain SDH deficiency in KIT/kinase-WT GIST. Other recent work includes the methyl-deviation index (MDI) as a prognostic marker in breast cancer; MDI can be more generally used to measure malignant cellularity, including lineage and purity, in routine biopsies. We also recently discovered the remarkable convergence of epigenomic programming in pluripotent stem cells and germ-cell-tumor cells. Then, we are completing a study of the clinical utility of saliva in the molecular profiling of solid and hematologic malignancy.
Michael P. LaQuaglia,* MD
Michael P. LaQuaglia, MD, is an Attending Surgeon and former Chief of the Pediatric Surgical Service at Memorial Sloan Kettering Cancer Center, as well as Professor of Surgery at Weill Cornell Medical College in New York, New York. He specializes in the treatment of cancer in children and adolescents, with a particular interest in neuroblastoma, gastrointestinal stromal tumor, Wilms’ tumor, hepatocellular carcinoma and other pediatric liver tumors, as well as thyroid tumors, desmoplastic small round cell tumor, and childhood sarcomas. Dr. LaQuaglia is actively involved in surgical and translational oncologic research into the pathologic and genetic mechanisms of the diseases affecting his patients. As a member of the faculty of both Memorial Sloan Kettering Cancer Center and Weill Cornell Medical College, he has been a committed medical educator for decades, training scores of pediatric surgeons who now practice across the US and internationally.
Dr. LaQuaglia earned his M.D. degree from the University of Medicine and Dentistry of New Jersey in 1976 and completed his postgraduate training at Massachusetts General Hospital and Children’s Hospital Medical Center in Boston, Massachusetts, and at Broadgreen Regional Chest Center in Liverpool, England. He is a Fellow of the American College of Surgeons, the Royal College of Surgeons in Edinburgh, and the Royal College of Surgeons of England. Dr. LaQuaglia holds leadership positions in several professional societies, including the American Pediatric Surgical Association and the American Academy of Pediatrics. For several years, he served as the Surgical Committee Chairperson of the Children’s Oncology Group, and he continues to actively participate in the research initiatives of that organization. Dr. LaQuaglia has authored over 200 articles in peer-reviewed journals and has contributed chapters to numerous medical textbooks.
Eamonn Maher, MD
Eamonn Maher is Professor of Medical Genetics and Genomic Medicine and Head of the Department of Medical Genetics. Prior to taking up this post in 2013 he was Professor of Medical Genetics and Academic Lead for the Centre for Rare Diseases and Personalised Medicine at the University of Birmingham. Dr. Maher has published around 400 research papers in scientific journals as well as reviews and book chapters in the fields of cancer genetics, human developmental genetics, epigenetics and genomic imprinting. He has a particular interest in research training for clinician and non-clinician scientists and had supervised more than 25 PhD or MD students to completion. Current research in Dr. Maher’s group relates to the molecular basis of inherited forms of renal cell carcinoma (supported by an ERC Advanced Researcher Award 2013-2018), phaeochromocytoma, multiple primary cancers, genomic imprinting disorders and developmental disorders.
Paul Meltzer, MD
Dr. Meltzer is Chief, Genetics Branch, Center for Cancer Research, National Cancer Institute (CCR/NCI). He has a broad background in genetics, genomics and pediatric oncology. Basic and translational research in cancer molecular genetics has been his major focus for over 30 years. Dr. Meltzer has contributed and continues to contribute to the development of molecular cytogenetics, gene cloning, microarray technology, bioinformatics, epigenetics, and genome sequencing. He has applied these technologies to many problems in cancer research and general genomics. Dr. Meltzer’s primary disease focus is adult and pediatric sarcoma research. He has made major contributions to the molecular classification and integrated genomics of several sarcomas, most recently pediatric gastrointestinal stromal tumor and osteosarcoma. Dr. Meltzer also has a significant track record of administrative accomplishments leading his own laboratory as well as the Genetics Branch of CCR/NCI. Additionally, Dr. Meltzer has a long record of successful collaborations with both intramural and extramural investigators and mentorship of trainees who now occupy senior positions in government, academia, and industry.
Markku Martti Miettinen,* MD
Laboratory of Pathology
Head, General Surgical Pathology Section
The mission of Division of the Surgical Pathology is to provide the most accurate and timely pathology consultations serving the clinical trials of the NCI/NIH using the latest technology integrated in morphologic evaluation. Dr. Miettinen’s research interests include pathology of soft tissue tumors and gastrointestinal stromal tumor (GIST). His group has delineated the prognostication system for GIST and clinicopathologic profile or GISTs of different sites. Current work includes prognostic, molecular, and biomarker analysis of sporadic and syndromic GISTs and evaluation of new diagnostic markers for soft tissue sarcomas and related tumors.
Areas of Expertise
1) Gastrointestinal stromal tumor (GIST), 2) soft tissue sarcoma
Becky Owens,* SDH-RA
Becky Owens is a founding member of the SDH Cancer Research Advocates.
She received a degree in Physical Therapy from West Virginia University and worked as a physical therapist for 23 years. In 2001, she was diagnosed with GIST at the age of 41. She serves on the executive board of GIST Support International (GSI) and as an Advocate Member of the NIH Pediatric and WT GIST Consortium.
When Becky was 7 years old, her mother died from medical events related to an SDH-deficient pituitary tumor. After much searching, 4 surgeries and 4 targeted therapies, in 2016 Becky learned that she had an inherited SDHA deletion driving her cancer. In her quest for answers for herself and others with rare SDH-related tumors, she co-founded the SDH Cancer Research Advocates.
Karel Pacak,* D.Sc., MD, PhD
Senior Investigator, National Institute of Child Health and Human Development, National Institutes of Health.
Dr. Karel Pacak graduated summa cum laude from Charles University, Prague, Czech Republic in 1984. In 1990 he began his postdoctoral fellowship at NINDS. Then in 1995 Dr. Pacak began his residency in internal medicine at the Washington Hospital Center under Dr. L. Wartofsky, followed by a fellowship in endocrinology, diabetes, and metabolism at NIH. He was Board certified in 1998 and 1999 in those disciplines. In 1998 he established a new Program for Neuroendocrine Tumors focusing on pheochromocytoma and paraganglioma at NICHD. He received his Ph.D. in1993 and his D.Sc. in 1998 in the field of neuroendocrinology from Charles University. In 2006 he was awarded a lifetime professorship in Internal Medicine at Charles University. Dr. Pacak is an internationally recognized expert in the diagnosis and treatment of neuroendocrine tumors, especially pheochromocytoma and paraganglioma. Dr. Pacak also established the International Symposia on Pheochromocytoma. He also helped co-found a new Asian Alliance for the Study of Neuroendocrine Tumors in 2010. He is a recipient of numerous awards including the Peter Heimann Memorial Award at Yale University, International Association of Endocrine Surgeons; NIH Director’s Mentor Award, Award for Cure from Pheo & Para Alliance, NICHD Director’s Award of Merit, Pincus Taft Memorial Lecture the Highest Award from Endocrine Society of Australia, and Jessenius Gold Medal from Slovak Academy of Sciences. Dr. Pacak is the author of more than 305 scientific peer-reviewed articles, 98 book chapters, and 5 books.
Maria Pantaleo,* MD
Maria Abbondanza Pantaleo, MD is Associate Professor, Department of Experimental, Diagnostic, and Specialty Medicines, University of Bologna, Italy. She has been a “Researcher in Medical Oncology” at the University of Bologna since 2006.
Dr. Pantaleo received her medical degree at the University of Bologna and a degree at School of Specialization in Medical Oncology at the University of Bologna. Thereafter, she received her PhD in Experimental and clinical Oncology at Modena and Reggio Emilia University.
Dr. Pantaleo completed training on the biology of gastrointestinal carcinomas at the Department of Clinical Medicine and Gastroenterology, Bologna University. She also trained at the European School of Cancer Genetics, Genoa, Italy and Memorial Sloan Kettering Cancer Institute in New York.
Dr. Pantaleo has collaborated nationally and internationally with:
- Department of Experimental Diagnostic Imaging, MD Anderson Cancer Center, University of Texas, Houston USA
- Department of Nuclear Medicine, Hadassah Hospital, Hebrew University Medical School, Jerusalem, Israeli
- Department of Medicine, Portland VA Medical Center and Oregon Health & Science University Knight Cancer Institute, Oregon Health & Science University, Portland, OR, USA
- Istituto Nazionale dei Tumori, Milano
Alberto S. Pappo,* MD
Dr. Alberto S. Pappo is Director of the Solid Tumor Division and Co-Leader, Developmental Biology & Solid Tumor Program at St. Jude Children’s Research Hospital in Memphis, Tennessee.
Dr. Pappo completed his medical training at Universidad Anahuac, Mexico City. He completed a residency at The University of Texas Health Science Center, and a fellowship at Children’s Medical Center of Dallas and The University of Texas Southwestern Medical Center at Dallas, Texas. He then completed a Clinical Fellowship with the American Cancer Society.
Dr. Pappo is a pediatric oncologist who has been interested in the study of sarcomas and rare cancers for over 20 years. His research interests include development of novel therapies for pediatric solid tumors with special interest in:
- Pediatric melanoma
- Soft tissue sarcomas
- Pediatric gastrointestinal stromal tumors
Dr. Pappo has been the principal investigator of three prospective national clinical trials for the treatment of childhood sarcomas and was the chair of the rare tumor committee of the COG from 2001-2008. He was one of the founders of the pediatric GIST clinic at the NIH in 2008. More recently he was appointed as chair and vice-chair of the Phase III DSMC committee of COG. He is also chair of the Pediatric Oncology Drug Advisory Committee of the FDA.
Sara Rothschild,* MPH, The Life Raft Group
Sara Rothschild is Vice President of Program Services for the Life Raft Group. Sara has helped launched in-person and virtual educational events for patients and their families for over ten years. Sara was key to starting the first NIH in-person clinic for Pediatric & Wildtype GIST patients and later leveraging virtual technology to not only connect patients, but also for medical professionals to convene and discuss challenging cases for review in a NIH-LRG Virtual Tumor Board program for pediatric and wildtype GIST patients. Sara has organized and coordinated previous GIST Days of Learning, LifeFest, New Horizons GIST, and Salud con Datos meetings in different locations around the world. She launched the Pediatric & SDH-Deficient GIST Consortium and has been invited to the Biden Cancer Initiative Summit in Washington, DC, in September 2018 to speak about her work among influential leaders in oncology. Sara has grown to be a globally respected patient advocacy leader and works well with a diverse network of stakeholders such as medical key opinion leaders, fellow patient advocates, pharmaceutical industry as well as government authorities.
Norman Scherzer,* The Life Raft Group
Norman J. Scherzer is the Executive Director of the Life Raft Group. Through Norman’s vast experience with the Centers for Disease Control for 25 years, and his role as Assistant Commissioner of Public Health for NYC, he has effectively managed multiple high-level projects. Norman has taken the role of urgency as the prevailing theme of his public health career and coupled it with passion to tackle the needs of cancer patients to help them survive. He has been instrumental in creating the world’s first and largest patient registry for GIST patients. He keeps the patients’ needs as top priority as he interacts with multiple stakeholders regarding the survival of the GIST community, and stresses the need to bring the voice of the patient to the planning and conducting of research. Norman has also challenged the traditional paradigm of cancer research and implemented a focused team of researchers tasked with collaboration over competition, and excellence over consensus, in order to find a cure for GIST. Norman’s experiences and outside-of-the-box creative and analytical thinking skills have contributed to numerous successes throughout his career. In September 2018, Norman was invited to speak on stage at the Biden Cancer Summit to announce the launch of the Pediatric & SDH-Deficient GIST Consortium, a project he is passionate about as children impacted by GIST have no approved therapies to treat the disease. Norman was also a founding collaborator for the first National Institutes of Health in-person clinic for Pediatric GIST patients.
Joshua Schiffman,* MD
Dr. Joshua Schiffman is a Professor of Pediatrics and Investigator at Huntsman Cancer Institute, the Medical Director for the Family Cancer Assessment Clinic, and the Education Director for the Program in Personalized Health at the University Of Utah. He is also a Pediatric Hematologist-Oncologist at Intermountain Primary Children’s Hospital in Salt Lake City, Utah. He graduated from the Brown University School of Medicine, followed by clinical training in Pediatrics and Pediatric Hematology-Oncology at Stanford University. He oversees a research laboratory at Huntsman Cancer Institute at University of Utah where he focuses on genomic development of cancer in children, and studying animals that develop more cancer (like pet dogs) and other animals that are naturally protected from cancer (like elephants and whales). Dr. Schiffman’s work revolves around genetic risk for cancer and its application for cancer diagnosis, treatment, and prevention. Dr. Schiffman’s clinical and research efforts focus on how to translate scientific discovery from the laboratory to his patients at increased risk for cancer. He is now overseeing an effort to collect, grow, and study SDH-related tumors from patients around the world to test new treatment approaches for these rare and often aggressive types of cancer.
Jason Sicklick,* MD
Dr. Jason Sicklick is an NIH-funded investigator and Associate Professor of Surgery at the University of California San Diego Moores Cancer Center. He is a board-certified general surgeon and surgical oncologist specializing in the treatment of hepatobiliary diseases and sarcomas, including gastrointestinal stromal tumors (GIST). In 2016, Dr. Sicklick was named the GIST Clinician of the Year by the Life Raft GIST Support Group, the largest GIST patient advocacy group in the world. In 2018, Dr. Sicklick was selected as a James IV Association of Surgeons fellow. This highly prestigious international traveling fellowship is designed to promote communication and collaboration in the surgical community. In 2018 he also received the RARE Champion of Hope in Medical Care & Treatment Award from the Global Genes-Allies in Rare Disease. He obtained his medical degree from the UCLA School of Medicine, completed his general surgery residency at The Johns Hopkins Hospital, and completed a fellowship in surgical oncology at Memorial Sloan Kettering Cancer Center. He joined the Division of Surgical Oncology at Moores Cancer Center in 2010. Dr. Sicklick is an active member of the National Comprehensive Cancer Network (NCCN) Sarcoma and Hepatobiliary Committees, the Transatlantic Atlantic Retroperitoneal Sarcoma Working Group, and the SDH GIST Consortium. Dr. Sicklick is on the Editorial Boards of Annals of Surgical Oncology, Journal of Gastrointestinal Surgery and Journal of Surgical Research. He has published in prestigious journals such as Clinical Cancer Research, Annals of Surgery, JAMA Surgery, Surgery, and Annals of Surgical Oncology. His translational and clinical research focus on molecular mechanisms of GIST, as well as precision medicine approaches to cancer therapy.
Constantine Stratakis,* MD
Senior Investigator, Section on Endocrinology and Genetics
A native of Greece, Dr. Stratakis received his M.D. and D.Sc degrees from the University of Athens. He trained at the Hospital Cochin in Paris, France, before coming to the NICHD, first as a student, then as a Visiting Research Associate, and then as a Research Fellow. He completed his pediatrics residency, as well as fellowships in pediatric endocrinology and clinical genetics, at Georgetown University. In 1996, he returned to the NICHD as a senior fellow, was promoted to staff scientist in 1997, and appointed tenure track investigator in 1998.
Dr. Stratakis’ is well known for the identification and characterization of the gene for Carney complex, a disorder that increases the risk for benign tumors of the heart and adrenal glands. In subsequent work, he deciphered the genetic underpinnings of a number of other endocrine disorders, among them primary pigmented nodular adrenocortical disease, a rare disease affecting the adrenal glands, as well as a class of disorders causing overgrowth of the adrenal glands (bilateral adrenocortical hyperplasias).
Dr. Stratakis has written or co-written more than 300 publications, and received numerous awards, including the Ernst Oppenheimer Award, one of the highest honors for scientists in the field of endocrine research.
William Timmer, PhD
Dr. William C. Timmer joined CTEP as a Program Director in the Clinical Grants and Contracts Branch in 2007. In 2018, he became a Program Director in the Clinical Investigations Branch. He manages a portfolio of clinical grants involving brain, head and neck, lung, liver, colorectal, pancreatic, and sarcoma cancers, plus neuroblastoma, retinoblastoma and neurofibromatosis. He is the CTEP representative to the Informatics Technology for Cancer Research program, as well as the Program Director for the Adult Brain Tumor Consortium, the Childhood Cancer Survivor Study, the Neurofibromatosis NF-1 Consortium, and the Drug Resistance and Sensitivity Network.
He received his Ph.D. in Physical Chemistry from the University of Wisconsin-Milwaukee, where he intended to pursue a career in the physical sciences. However, a unique opportunity became available at NIH, and he transitioned to molecular biology and clinical sciences. He studied the immunoregulatory effects of cytokines on HIV replication in the Laboratory of Immunoregulation at the National Institute of Allergy and Infectious Diseases (NIAID), where he was mentored by Dr. Anthony Fauci.
He subsequently joined the Food and Drug Administration (FDA) where, over a 15-year period, he held a variety of positions. At the Centers for Drugs and Biologics, Dr. Timmer evaluated regulatory submissions in the areas of HIV detection kits, cellular and gene therapies, and medical devices. At the Center for Drug Evaluation and Research he participated on review teams evaluating investigational and new drug applications in the Divisions of Anesthesia, Dermatology, Neuropharmacology, Cardio-Renal, and, ultimately, Oncology Drug Products, where he was mentored by the Director of the FDA Oncology Center of Excellence, Dr. Richard Pazdur.
Jonathan Trent,* MD
Dr. Jonathan C. Trent earned his MD and PhD in cancer biology from The University of Texas Health Science Center where he also completed a residency in internal medicine. He then completed a fellowship in medical oncology at The University of Texas M. D. Anderson Cancer Center while serving as chief fellow. Prior to joining the University of Miami, Sylvester Comprehensive Cancer Center, he held an appointment as associate professor of medicine in the Department of Sarcoma Medical Oncology, Division of Cancer Medicine at the University of Texas M. D. Anderson Cancer Center in Houston. Dr. Trent is currently the Associate Director for Clinical Research, the Director of the Bone and Soft-tissue Sarcoma Group and Medical Director of the Precision Medicine Initiative at the Sylvester Comprehensive Cancer Center.
Dr. Trent’s interests are in the clinical and translational research of sarcomas, direct care of sarcoma patients, and education about sarcoma. As Associate Director for Clinical Research, his goal is to help Sylvester Faculty develop clinical trials that provide clinically effective and scientifically exciting therapy to cancer patients of South Florida and beyond.
The major focus of his clinical, educational and research efforts are with gastrointestinal stromal tumor (GIST), chondrosarcoma, and other sarcomas. The major efforts of Dr. Trent’s research focus on understanding the mechanisms of action and resistance of imatinib in GIST and other sarcomas while striving toward improved therapeutic options. His work involves the use of novel preoperative/postoperative clinical trials, prospectively acquired tumor tissue, cell lines, archival tissue, as well as collaborations with disciplines such as the genomics facility, surgical oncology, pathology, radiology and interventional radiology.
Margaret von Mehren* MD
Margaret von Mehren, MD
Fox Chase Cancer Center
Dr. Margaret von Mehren was born in New York City, NY, where she received her primary and secondary education. She then matriculated at Georgetown University in Washington, DC, where she majored in Biology and minored in Philosophy, and graduated in 1985 with honors. She received her medical degree from Albany Medical College in Albany, NY. Dr. von Mehren completed an internship and residency at New York University Medical Center in New York before moving to Philadelphia for her fellowship in medical oncology at the Fox Chase Cancer Center and Temple University. After completing fellowship, Dr. von Mehren joined the faculty of the department of Medical Oncology at Fox Chase Cancer Center where she remains today as and Associate Professor and the director of the Sarcoma program. She is a member of the NCCN panel for soft tissue sarcomas and GIST task force, as well as the Intergroup GIST Task force.
Dr. von Mehren entered fellowship with an interest in immunotherapies. She developed and conducted several trials utilizing recombinant vaccines. Her exposure as a fellow to sarcoma oncology however, led her to develop an interest in the care of this diverse patient population. The need for new therapies for this group of patients afforded an opportunity to test novel compounds. Her career has now become focused on sarcoma developmental therapeutics. She has a strong emphasis on agents for advanced gastrointestinal stromal tumors, and has served as principal investigator on many trials testing novel tyrosine kinase inhibitors as well as other targeted agents for this disease. She volunteers at the NIH Wild type GIST clinic biannually. She has also led studies testing novel agents for soft tissue sarcomas such as trabectedin. Dr. von Mehren is an active collaborator with basic scientists studying GIST and other sarcomas. The GIST research group at Fox Chase Cancer Center has identified IGF-1R as a potential target for therapy. She is developing trials to evaluate agents targeting this growth factor.
Christopher B. Weldon,* MD, PhD
Christopher Weldon, MD, PhD is Assistant in Surgery, Department of Surgery; Director, Pediatric Surgery Critical Care Fellowship and Assistant Professor of Surgery, Boston Children’s Hospital, Harvard Medical School.
Dr. Weldon completed his medical education at Tulane University School of Medicine, New Orleans, Louisiana. He then went on to complete his residency at Tulane. He completed a fellowship in Critical Care at Tulane as well as a fellowship in Pediatric Surgery at Boston Children’s Hospital.
Dr. Weldon is Board Certified in Critical Care, General Surgery, and Pediatric Surgery. His clinical interests include critical care, melanoma, pediatric general surgery, and pediatric surgical oncology.