Over 11 years ago the founders set out to meet the needs of patients and community affected by Peutz Jeghers Syndrome (PJS) as the result of STK11/LKB1 tumor suppressor gene mutation. The founders soon realized the incredible challenges they faced because of the rare nature of PJS and the fact that it was not being worked on by any biotech or pharmaceutical company with financial backing.
Through many struggles and much sacrifice, the founders restlessly pursued treatments and cures for PJS, STK11/LKB1 gene mutation, and polyposis by funding, collaborating, and merging relationships including putting together scientific advisory. During this time, the founders also made sure to validate a clear path ahead for PJS cures and treatments, so the community does not get a run around.
The founders sponsored patient care and awareness campaigns. Online campaigns have notified and educated people globally. Their targeted campaigns also included informing dentists and dermatologists who are on the front lines to detect lip and mouth pigmentation for genetic testing and early diagnosis.
The founders operate with integrity, trust, and credibility. The founders care deeply for the community with children and families impacted by PJS. The founders know firsthand about the poor quality of life these PJS patients experience as the result of extensive continuous check-ups and risky surgical procedures, including the negative mental impact as the result of stress, anxiety, financial burden, and limitless pressure.
The good news is that years of research, animal proof, and the designed scopes of work with precision medicine via repurposing FDA approved treatments will most likely treat PJS symptoms, polyposis, and cure the LKB1 (STK11) tumor suppressor gene mutation that is at the center of it all. This will improve quality of life for many since mutation of STK11/LKB1 master tumor suppressor gene is at the center stage causing many diseases.
Genome Wide Assoc Studies (GWAS)
Chinese Medicine, Ayuveda
Gastroenterology (including surgeons)
Director of Integrated Cellular Imaging Core, Cancer Biology PhD program, Associate Professor and Director of Graduate Studies. Dr. Marcus presents years of experience at Emory's Winship Cancer Institute and has his own laboratory which focuses on cell biology and pharmacology. His Tumor Escape and Metastasis (TEAM) group is focused on biology and therapeutic targeting of lung cancer metastasis. They have developed novel image-guided genetic technologies to understand intra-tumor heterogeneity. Their work can be viewed as "clinical cell biology", where they address questions in the clinic using translational cell biology approaches. His Laboratory studies how cancer cells invade and metastasize using a combination of molecular and imaging-based approaches. His work is focused on the lung cancer tumor suppressor protein and epithelial signaling protein, LKB1. This serine/threonine kinase is mutated in 30% of patients with nonsmall cell lung cancer; however, the functional significance of LKB1 loss in lung cancer is unknown. His group has shown that LKB1 plays a central role in cancer cell migration by behaving as a dynamic, actinassociated protein that regulates the cell polarity and adhesion pathway. Currently his work is focused on understanding how LKB1 mutations impact metastasis in mouse models and use this information to develop new treatments that can be specific for LKB1-inactivated tumors. Other parts of his work include development of natural compounds that preclude breast cancer cell metastasis and have minima toxicity to normal cells. He has identified the natural compound Withaferin A and its root extract as a potential anti-metastatic agent in breast cancer. He envisions for this agent to be used in high-risk metastatic patients and or combined with traditional cytotoxics to inhibit both metastasis and tumor growth. Dr. Marcus' laboratory has been funded by the NCI, NCCAM, ACS, and private donations. Dr. Marcus also directs an educational outreach program Students for Science with the goal of providing science, technology, engineering, and mathematics (STEM). Dr. Marcus leads the science education outreach program, Students for Science. The goals of this program are to use STEM-based initiatives in K12 classrooms to stimulate critical thinking and enthusiasm for the sciences. This program has visited over 35 schools, 150 classrooms, and 2000 students.
Dr. Steven Erdman is a pediatric gastroenterologist in Columbus, Ohio and is affiliated with Nationwide Children's Hospital. He received his medical degree from University of Utah School of Medicine and has been in practice for more than 20 years. He is one of 26 doctors at Nationwide Children's Hospital who specialize in Pediatric Gastroenterology. He has been a practicing pediatric gastroenterologist for over 35 years and has clinical and research interests are in the area of hereditary gastrointestinal cancer and polyposis syndromes in children and young adults. He is one of the GI Division's interventional endoscopists with a focus in the use of double balloon enteroscopy in the treatment of children with small intestinal disease. Dr. Erdman is past president of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer (CGA-IGC), serves as a member of the Collaborative Fund Committee of the CGA-IGC and is a member of the International Society for gastrointestinal Hereditary Tumours (InSiGHT). He is named among the "Best Doctors in America" and has authored 53 peer-reviewed articles and book chapters.
Dr. William Berquist is a pediatric gastroenterologist in Palo Alto, California and is affiliated with multiple hospitals in the area, including Children's Hospital and Research Center Oakland and Lucile Salter Packard Children's Hospital at Stanford. He received his medical degree from Northwestern University Feinberg School of Medicine and has been in practice for more than 20 years. He is one of 11 doctors at Children's Hospital and Research Center Oakland and one of 18 at Lucile Salter Packard Children's Hospital at Stanford who specialize in Pediatric Gastroenterology.
Dr. Roberto Gugig is a pediatric gastroenterologist in Palo Alto, California and is affiliated with multiple hospitals in the area, including Valley Children's Healthcare and Hospital and Lucile Packard Children's Hospital Stanford. He received his medical degree from Central University of Venezuela and has been in practice for more than 20 years. He is also a clinical professor, Pediatrics, Gastroenterology. Pediatric gastroenterologists treat conditions in children like chronic stomach pain, ulcers, diarrhea, reflux, cancer and Crohn's disease.
As an expert in the field of pediatric gastroenterology, Dr. Ho’s interests include all gastroenterology, liver and nutritional disorders and diseases and special interests include intestinal rehabilitation and home parenteral nutrition. His other areas of interest include non-alcoholic fatty liver disease. Dedicated to clinical excellence, Dr. Ho is board certified in pediatrics and pediatric gastroenterology. He received his doctor of osteopathy degree from Touro University College of Osteopathic Medicine in Vallejo, California. He completed his pediatric residency training at the University of Nevada, School of Medicine in Las Vegas, followed by a fellowship in pediatric gastroenterology at UCLA in Los Angeles, California. During his fellowship at UCLA, he received extensive training and experience in liver and small bowel transplantation. Dr. Ho participated in research identifying the prevalence, risk factors and comorbidities for obesity in pediatric liver transplant recipients. Dr. Ho serves as medical director of endoscopy services at CHOC Children’s and also reviews video capsule endoscopy studies. He is part of the Intestinal Rehabilitation and Home TPN Program at CHOC Children’s. Dr. Ho is fluent in Mandarin Chinese.
Dr. James Wall is a practicing Pediatric Surgeon at Stanford University. He is an alumnus of the Stanford Biodesign program and holds a Master's degree in Bioengineering. His current research interest is in the design, development and analysis of health technology as well as the emerging field of surgical endoscopy. James currently leads the surgical endoscopy program at Lucile Packard Children’s Hospital and is the Assistant Director of the Biodesign Innovation Fellowship for Stanford Biodesign. Lucile Packard is one of the only Children's Hospitals in the world to offer advanced surgical endoscopic procedures including the Per-Oral Endoscopic Myotomy (POEM) for Achalasia. Clinical focus: Pediatric Surgery, Neonatal Surgery, Minimally Invasive Pediatric Surgery, Endoscopic Gastrointestinal Surgery, Anorectal Malformations, Congenital Diaphragmatic Hernia, Hirschsprung's Disease, Congenital Pulmonary Airway Malformations, Pectus Excavatum, Pectus Carinatum.
Dr. Albanese is a seasoned physician executive, having spent the last 14 years as part of Stanford Children’s executive leadership team. Dr. Craig Albanese is a surgeon in New York, New York and is affiliated with multiple hospitals in the area, including California Pacific Medical Center and Lucile Packard Children's Hospital Stanford. He received his medical degree from State University of New York Downstate Medical Center College of Medicine and has been in practice for more than 20 years.
Principal investigator at University of Helsinki and previously a research fellow at Columbia University Medical Center. PhD work doing biochemical characterization of proteins carrying patient-derived potentially cancer-causing mutations. Teaching of undergraduate students in cytogenetics and molecular biology. University of Zurich, Institute of Molecular Cancer Research, researched on biochemistry of mammalian mismatch repair system. Teacher of cytogenetics and genetic courses.
Dr. Amos is the Chair and Professor of Biomedical Data Science, Family Medicine, Molecular Systems Biology and Director for Population Sciences, Norris Cotton Cancer Center. His focus has been on development and application of novel methods for understanding the basis of inherited predisposition to cancer and other complex diseases. He has developed design criteria for the conduct of genetics studies and subsequently applied these for studying families and for population based analysis. He colead the International Genetic Association and Mechanisms in Oncology (GAME-ON) consortium which brings together population-based researchers studying genetic and environmental causes of lung (LKB1), breast, prostate, colon and ovarian cancers. He has studied Puetz-Jeghers Syndrome (PJS) and LKB1 (STK11) for years and has many publications that guide many institutions and medical professionals
Associate Profession of Biomedical Data Science at Dartmouth Geisel School of Medicine. Prior to joining Dartmouth, Dr. Gorlov served for many years at MD Anderson Cancer Center. His interest is in identification and understanding genetic factors influencing cancer risk and progression. He has demonstrated that a joint analysis of GWAS and gene expression date improves prediction of the genes associated with cancer risk. In collaboration with Dr. Amos, he developed an empirical model to identify disease-associated SNPs that are likely to be independently validated. His activities include development of novel bioinformatics approaches to identify genetic factors influencing cancer risk and progression, and application of the approaches to the real data. He has published numerous papers on using gene expression data to identify genes associated with cancer initiation and development. He is currently working on algorithms using gene expression date for better understanding of cancer biology.
Nicholas J. Schork is a Professor and Director of Human Biology at the J. Craig Venter Institute (JCVI). He is also an adjunct Professor of Psychiatry and Family and Preventive Medicine (Division of Biostatistics) at the University of California, San Diego (UCSD). Dr. Schork’s interests and expertise are in quantitative human genetics and integrated approaches to complex biological and medical problems, especially the design and implementation of methodologies to dissect the determinants of complex traits and diseases. He has published over 450 scientific articles and book chapters on the analysis of complex, multifactorial traits and diseases. A member of several scientific journal editorial boards, Dr. Schork is a frequent participant in U.S. National Institutes of Health-related steering committees and review boards, and has founded or served on the advisory boards of ten companies. In addition, he is currently director of the quantitative components of a number of national research consortia, including the NIA-sponsored Longevity Consortium and the NIMH-sponsored Bipolar Consortium. Dr. Schork earned the B.A. in Philosophy, M.A. in Philosophy, M.A. in Statistics, and Ph.D. in Epidemiology, all from the University of Michigan in Ann Arbor
A nationally-recognized expert in pediatric hematology and an oncologist, Dr. Nugent, M.D., is affiliated with numerous Children's hospitals for over 20 years. Her clinical and research interests include blood disorders, bone marrow failure, bleeding and clotting disorders, and white cell and immune deficiencies. She is involved in a number of clinical trials for rare blood disorders, including a study that looks at the use of Fibrogammin P, a human plasma derived Factor XIII concentrate, in patients with congenital Factor XIII deficiency. Dr. Nugent is also principal investigator for the Region IX MCHB Hemophilia Treatment Program and its associated research. Dr. Nugent has coauthored more than 100 journal articles and book chapters and has been featured in journals including Haemophilia, Blood, New England Journal of Medicine, Thrombosis Research and more. She specializes in all aspects of hematology, bone marrow failure, anemias, immune disorders, bleeding and clotting disorders. Specialized procedures include bone marrow biopsy, aspiration and lumbar puncture. Dr. Nugent is also a member of the NIH, serving as advisory.
Dr. Rice is Assistant Professor of Biochemistry & Molecular Biology at the Harlyne J. Norris Cancer Research Tower, USC Keck School of Medicine. He trained at the University of Arizona, Tucson, where he received a Ph.D. in 2000. Dr. Rice studies aspects of histone proteins to describe the mechanisms and factors involved in transcription. He is looking for causes of defects in cell cycle progression, gross alterations in DNA, increased instability of genetic material, and enhanced oncogenic transformation potential ‒ all of which may contribute to onset of cancers. Dr. Rice's lab indentified a cellular enzyme, known as PR-Set7, that is essential for preventing genomic instability; a major hallmark of cancer. Dr. Rice recently discovered the mammalian enzyme responsible for the dysfunction of certain proteins, which are recognized to play important roles in many human pathologies, including cancer. Funds from STOP CANCER allowed his laboratory to critically test a novel hypothesis that PR-Set7 is a key component of DNA repair and that defects in PR-Set7 function would result in genomic instability and cancer transformation. This research led to a new multi-year grant funded by the American Cancer Society and a new research direction for Dr. Rice's lab. His lab is currently investigating a new selective inhibitor of PRSet7 with the expectation that it will ultimately be used in the clinic as a new treatment to eradicate cancer.
Dr. Jorge Vargas is a pediatric gastroenterologist in Los Angeles, California and is affiliated with multiple hospitals in the area, including UCLA Medical Center and UCLA Medical Center Santa Monica. He received his medical degree from Colegio Mayor de Nuestra Señora del Rosario and has been in practice for more than 20 years. Dr. Vargas accepts several types of health insurance, listed below. He is one of 13 doctors at UCLA Medical Center and one of 7 at UCLA Medical Center Santa Monica who specialize in Pediatric Gastroenterology. He also speaks multiple languages, including Spanish.
Donald Kohn, MD, focuses on the development of new methods to treat genetic diseases of blood cells, such as sickle cell and “bubble baby” disease, as well as using genetic modification of blood stem cells to treat cancer and leukemia. Kohn’s lab studies methods for effective gene transfer and expression and has translated those findings from the lab into clinical trials of gene therapy for congenital immune deficiencies and pediatric AIDS. A trial for sickle cell disease is currently under development. Dr. Kohn’s work is currently funded by the California Institute of Regenerative Medicine, the National Institutes of Health, the Doris Duke Charitable Foundation and the Juvenile Diabetes Research Foundation, with past funding also from the March of Dimes, the American Cancer Society and the Leukemia and Lymphoma Society. His lab is also a site for active training of UCLA undergraduate and graduate students and postdoctoral fellows.
Flagship Executive Officer, ICAN Digital Precision Cancer Medicine Flagship. Director, Helsinki Institute of Life Science HiLIFE. Vice Director, Academy of Finland Center of Excellence in Translational Genome-Scale Biology. Description of research and teaching: Kinase signaling linking metabolism and growth control
Major human diseases such as diabetes and cancer are due to deregulat- ed signaling stemming from genetic alterations and extrinsic factors. Signaling in pathways and in larger networks typically involves sequential activation of kinases phosphorylating substrates and thus relaying and amplifying signals ultimately mod- ulating transcriptional responses in target gene sets. Our longstanding interest is to characterize signaling pathways regulating mammalian cell growth and how these impinge on transcriptional responses in human disease.
tabolism are the transcriptional kinases Cdk7 and Cdk8 mediating signals to RNA polymerase II. We are investigating the molecular mechanisms and in vivo functions of Cdk7 and Cdlk8 combining mouse molecular genetics with Drosophila knockdown strategies and cell-based screening approaches. Recent discoveries include identify- ing that Cdk7 acts as a roadblock to adipogenesis and that this presumed ubiquitous basal transcription factor is not expressed in fat tissues. Our goal is to understand the basis for the specificity of transcriptional regulation by metazoan Cdk7 and Cdk8 and their contribution to growth control and differentiation.
One of the rare kinases acting normally to restrict tumor growth is the LKB1ser- ine/threonine kinase critical for activation of at least 14 related kinases involved in metabolism and polarity regulation. We are interested in how LKB1 mediates its tumor suppressing function, and recently identified that LKB1 signaling in mesen- chymal cells is required for suppression of epithelial hyperproliferation in a mouse polyposis model and likely also in the human Peutz-Jeghers syndrome. We are cur- rently extending investigations of tumor suppression mechanisms of the LKB1 tu- mor suppressor kinase from hereditary polyposis to sporadic cancer (lung, uterine cervix). For this a combination of tissue- and cell type specific targeting approaches in vivo (conditional mouse models) and in vitro (2D and 3D RNAi & conditional dele- tions) of LKB1 and LKB1 substrate mutations will be used with a specific interest in the Nuak2 and AMPK kinases and cytoskeletal regulation.
Professor, Molecular and Cell Biology with laboratories at Salk institution. Dr. Shaw's laboratory studies the role of LKB1 and AMPK in cancer and diabetes. LKB1 was originally identified as the tumor suppressor gene on human chromosome 19 responsible for cancer disorder Peutz-Jeghers Syndrome (PJS). LKB1 is also one of the most commonly mutated genes in sporadic human lung cancer. LKB1 was also found to be mutated in cervical carcinomas. LKB1 and AMPK control cell growth in response to environmental nutrients changes which could help identify new targets and drugs for cancer therapy owing to the fact that the activity of AMPK can be targeted with drugs already in use for diabetes treatment. Reuben Shaw investigates mechanisms connecting cell metabolism to growth control. His lab utilizes biochemistry and genetic mouse models to study an ancient signaling pathway that is deregulated in both cancer and type 2 diabetes. The central goal of their research is to elucidate mechanisms by which cells connect nutrient availability to cell growth and metabolism. Work is focused on a highly conserved signal transduction pathway controlled by the AMP-activated protein kinase (AMPK) that, when deregulated, leads to cancer and metabolic disease. Activation of AMPK by the tumor-suppressor LKB1 under conditions of energy stress serves as a central switch that reprograms glucose and lipid metabolism and halts cell growth. LKB1, which encodes a serine/threonine kinase that is the cause of the inherited cancer disease Peutz-Jeghers syndrome, is also one of the most commonly mutated genes in lung cancer. Shaw’s research focuses on cancer metabolism: how metabolic pathways are altered in cancer and play a role in the origins and progression of the disease. While investigating one of the most commonly mutated genes in lung cancer, Shaw discovered an energy-sensing pathway that shuts down cell growth and reprograms metabolism when nutrients are scarce. This energy-sensing pathway had been previously studied as the target of the most widely prescribed type 2 diabetes medications worldwide (metformin), suggesting a very unexpected and very direct link between metabolic pathways and cancer. His lab went on to molecularly decode a number of new components of this metabolic pathway, which connects nutrition and exercise to suppression in both cancer and diabetes. From this work, the lab’s studies have led to the discovery of new therapies for both cancer and type 2 diabetes. Shaw has recently published work showing how to attack cancer’s cellular energy source and how a common, deadly lung cancer spreads. “Salk’s Cancer Center has enabled important advances in cancer research, from decoding fundamental cell processes that go awry in cancer all the way through developing promising treatments, many of which have entered into clinical trials in the past few years,” says Shaw. “Through the center, we will leverage the Institute’s close-knit interdisciplinary approach to push the boundaries of cancer research and find powerful new therapies.” Current efforts in his laboratory are aimed at further identifying the key components of the LKB1-AMPK signaling pathway that suppress tumorigenesis and metabolic disease, as well as decoding the circuits linking fundamental cell biological processes to physiology. They employ a variety of biochemical, cellbiological, and genetic mouse models to dissect these biological processes. The discovery of this ancient energy-sensing pathway has already led to fundamental insights into the mechanisms through which all eukaryotic organisms couple their growth to nutrient conditions and metabolism. A deeper understanding of the key components of this pathway connecting metabolism and cell growth will instruct them how to best exploit these endogenous mechanisms to combat specific forms of cancer and type 2 diabetes.
COPYRIGHT © 2023 CURINGGENETICS