Our goal is to provide you with the most up to date, comprehensive and accurate medical information related to CLOVES Syndrome.
All medical material on this website is developed with oversight and direction from CLOVES Syndrome Community’s Scientific and Medical Advisory Board (SMAB).
Denise Adams, MD
- Director of Complex Vascular Anomalies Program (CVAP) at Children’s Hospital of Philadelphia
Dr. Denise Adams is a pediatric hematologist oncologist in practice at Children’s Hospital of Philadelphia. Dr Adams will be leading a cutting-edge, multidisciplinary program that seeks breakthrough treatments and cures for children, adolescents and young adults with rare, life-threatening tumors and malformations of the vasculature, which includes the arteries, veins, capillaries, lymphatics and combined lesions. Of key interest to Dr. Adams is the improvement in care of patients with complex vascular anomalies. Dr. Adams describes her philosophy of care as this . “Since my first high school biology class, I have wanted to be a physician and since residency my passion has been the care of chronically ill children. In fellowship, I found a new passion and goal…to care for children and young adults with vascular anomalies. This was a spectrum of diseases with limited treatment options and high morbidity that needed the care of physicians with keen interest in discovery to improve their outcomes. This is my mission.”
Guillaume J.M. Canaud MD, PhD
- Professor in Medicine
- Head of the Overgrowth clinical unit at Necker Enfants Malades Hospital, Paris, France
- Head of the research laboratory “Precision medicine in rare diseases affecting the mTOR pathway” at Institut Necker Enfants Malades, Paris, France
Guillaume Canaud is a MD, PhD working at Renal Division of Necker Hospital in Paris. He did his medical school in Montpellier and moved to Paris in 2002 to perform his Residency in Nephrology (2002 to 2007). He became Senior Resident at Renal Division of Necker Enfants Malades (Prof. Legendre) in 2007. He spent four years from to 2008 to 2012 in the laboratory of Dr. Fabiola Terzi (INSERM U1151, Necker Enfants Malades Hospital), where he obtained his PhD degree in molecular and cellular biology. Then, as postdoctoral fellow, he joined the Joseph Bonventre’s Laboratory (Harvard Medical School) from 2012 to 2014 developing a project on the molecular mechanisms of chronic kidney disease progression. He rejoined Prof. Legendre’s team as Associate Professor in 2014 and opened his own research group dedicated to translational medicine. He obtained a very competitive European Research Council (ERC) starting grant (2015) for his research project on kidney and an ERC Proof of Concept Grant for his translational research proposal in rare diseases (2016).
Recently, Guillaume and his group, identified and reported in Nature a very promising therapeutic strategy for patients with a rare genetic disorder called PIK3CA-Related Overgrowth Syndrome. He published his work as first or last author in top leading medical and scientific journals such as Nature, The New England Journal of Medicine, Nature Medicine, Science Translational Medicine or Proceedings National of the American Science. He is the inventor of 10 patents, and received numerous awards including the Prize Jean Lecocq of the French Academy of Sciences (2018), the Jean Hamburger Prize from the City of Paris (2019) and the Eloi Collery Prize from the French Academy of Medicine (2019, highest distinction).
In 2019, Guillaume became full Professor of Medicine at Necker Hospital/University Paris Descartes and created the first multidisciplinary unit dedicated to patients with overgrowth syndromes. In addition, he launched a private/public consortium (acronym COSY: Cure Overgrowth SYndromes) to improve the care and outcome of patients with overgrowth syndrome that was awarded with 9.4 M€ grant from the French government.
Craig M. Johnson, DO
- Medical Director of Interventional Radiology, Division of Interventional Radiology, and Department of Radiology at Nemours Children’s Health in Orlando, Florida.
Dr. Craig M. Johnson is the Medical Director of Interventional Radiology at Nemours Children’s Health in Orlando, Florida. Dr. Johnson completed his Osteopathic Physician training at Des Moines University/College of Osteopathic Medicine in 2003. He went on to complete his transitional Internship at the University Hospitals Richmond Medical Center in 2004, his residency for Diagnostic Radiology at Aultman Hospital in 2008, and he completed his Fellowships at Ped Interventional Radiology – Children’s Hospital Boston, 2009 and Pediatric Radiology – Children’s Hospital Boston, 2009. He is board certified with the American Board of Radiology/Diagnostic Radiology and American Board of Radiology/Pediatric Radiology.
Dr. Johnson’s areas of expertise include CLOVES Syndrome, Interventional Radiology, Intestine Failure, Short Bowel Syndrome, Vascular Malformations, and Venous Anomalies. He is passionate about innovation, particularly within his specialty – pediatric interventional radiology – which provides new and better therapies for kids. He is also passionate about ensuring that the disadvantaged pediatric population has the opportunity to receive the best possible healthcare as everyone else.
Kim M. Keppler-Noreuil, MD
- Professor of Pediatrics
- Division Chief of Pediatric Genetics & Metabolism
- Director of Genetics & Metabolism, Waisman Center
- University of Wisconsin Hospital and Clinics
Kim Keppler-Noreuil, MD joined the Division of Genetics and Metabolism, Rare Disease Institute at Children’s National Medical Center as Professor of Pediatrics in November 2018 after her tenure at the National Human Genome Research Institute/National Institutes of Health as Clinician Associate Investigator from 2012-2018. Dr. Keppler-Noreuil completed her pediatric residency at the Arkansas Children’s Hospital, University of Arkansas for Medical Science, and her fellowship in Medical Genetics in the Department of Pediatrics, University of Alabama. She was on faculty as Professor of Pediatrics, Division of Medical Genetics at the University of Iowa Hospitals & Clinics, Clinical Director of the Iowa Registry of Inherited and Congenital Defects, and Program Director of the Medical Genetics Residency Training Program up to 2012. She also served as Co-Director of the Medical Genetics Course for the first-year medical students. She has been actively involved in patient care, teaching and clinical research during her career.
Dr. Keppler-Noreuil’s clinical and research interests have included clinical delineation of multiple malformation syndromes, and studies of epidemiology and pathogenesis of birth defects, inherited and chromosomal disorders. As the Clinical Director of Birth Defects, Iowa Registry for Congenital & Inherited Disorders (IRCID) from 1997-2012, she oversaw cases ascertained by the IRCID, and as Co-Investigator contributed to the development of case classification guidelines for the National Birth Defect Prevention Study (NBDPS), a multicenter study of genetic and environmental risk factor of over 30 major birth defects, as well as being the reviewer /classifier for NBDPS cases. Her recent research involving the Centers for Birth Defects Research and Prevention (CBDRP) data have been descriptive and genetics studies of cloacal exstrophy, Dandy-Walker malformation and hydrocephalus.
More recently, Dr. Keppler-Noreuil has led studies of clinical characterization, genetic studies, and therapeutic interventions, namely clinical drug treatment trials for somatic overgrowth and vascular malformation disorders, including Proteus syndrome and PIK3CA-related overgrowth spectrum (PROS). She and her colleagues at the National Human Genome Research Institute (NHGRI) completed a Phase 0/1 clinical drug treatment trial with an AKT1 inhibitor for Proteus syndrome, Pharmacodynamic study of Miransertib in individuals with Proteus Syndrome in the American Journal of Human Genetics in 2019. In addition, with colleagues from NHGRI, Cambridge University and University of Dijon, they completed and published results of an open-label drug treatment trial for PROS, including patients with CLOVES syndrome: Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum in Genetics in Medicine in 2019. Her published studies of PROS and Proteus syndrome comprise descriptive analyses of craniofacial abnormalities, cardiac, risk factors for thromboembolism, and prevalence and complications of vascular malformations and tumors.
Ralitsa Madsen, PhD
- Sir Henry Wellcome Fellow
- UCL Cancer Institute, UK
Ralitsa Madsen completed her PhD (2015-2018) with Prof Robert Semple at the Institute of Metabolic Science, Cambridge; here, she engineered developmental, stem cell-based models expressing activating PIK3CA mutations found in PIK3CA-related conditions and cancer. Following on from a short postdoc with Prof Semple at the University of Edinburgh, Ralitsa became a postdoc with Prof Bart Vanhaesebroeck at UCL Cancer Institute (London) in September 2019. In December 2020, she was awarded a Sir Henry Wellcome Fellowship to start her independent line of research, with Prof Bart Vanhaesebroeck and Prof Julio Saez-Rodriguez (Heidelberg, Germany) as her primary and secondary research sponsors, respectively. Ralitsa’s research focuses on quantitative (or systems biology-based) understanding of class IA PI3K signalling, with a particular focus on disease-associated, activating mutations in the PIK3CA gene and the development of improved cell-based model systems for this purpose. Ralitsa’s work in this area has also been supported by CSC. Alongside her research, Ralitsa is an open science advocate, taking part in various grassroots activities aimed at promoting research integrity/reproducibility nationally as well as internationally.
Julie C. Sapp, Sc.M., C.G.C.
- Genetic Counselor
- Clinical Genomics Section
- National Institutes of Health
Julie Sapp works as part of a multi-disciplinary research team where she draws upon her genetic counseling training and over a decade of behavioral science research experience to promote the integration of genomics into medical practice. The diverse clinical research portfolio of the laboratory she works in and her role as primary clinician working directly with research participants has positioned her to investigate a varied set of important social and behavioral questions related to the practice of clinical genomics and genetic counseling. Her work in this area has included qualitative and quantitative investigations of social and behavioral constructs such as the psychosocial impact of genetic disease, patient attitudes and beliefs, decision-making, research ethics, and informed consent. More recently, she has extended her early work to include applying these approaches to understand how best to meet the clinical demands of the expanding role of genome and exome sequencing and how to maximize the utility of genomic findings for both patients and practitioners. Her research focus in these efforts is to investigate the clinical utility of genomic techniques to develop best practices for the return of results and inform future studies of the expanding role of genomics.