Kontakt

P.O. Box 856

Windham, Maine

USA 04062

info@GlobalDAREFoundation.org 

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EIN: 84-3343395

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Medical & Scientific Advisory Board

The Global DARE Foundation is fortunate to have an advisory board made up of the foremost researchers and clinicians in the field of Refsum Disease and peroxisomal disorders. In their roles as medical and scientific advisors, members collaborate with each other and with our Board of Directors to drive forward better quality of life for those diagnosed with Refsum Disease.

Zielsetzungen für 2020:

Förderung des Bewusstseins für Refsum

  • Erstellen und Aufschalten einer Refsum-Webseite

  • Aufnehmen eines Videos, um die Folgen der Refsum-Krankheit auf die Betroffenen bewusst und fassbar zu machen.

  • Erstellen von Auftritten auf Social Media Plattformen wie Facebook, LinkedIn, Twitter und Instagram

  • Durchführung von Spendenaktionen, um die finanziellen Mittel zur Erfüllung der Zielsetzungen für 2020 zu erhalten.

Ausfindigmachen von weiteren Refsum-Betroffenen

  • Kontaktaufnahme zu Ärzten in medizinischen Einrichtungen auf der ganzen Welt, um deren Bewusstsein für die Refsum-Krankheit zu schärfen.

  • Öffentlichkeitsarbeit auf den sozialen Medien, um mehr Patienten auf der ganzen Welt zu finden.

  • Erschaffung eines Patientenregisters, um ab 2021 Patientendaten für Foschungszwecke sammeln zu können.

zusammenarbeit

  • Gründung und Etablierung der Stiftung

  • Erschaffen eines gemeinschaftlichen Netzwerks von Patienten, Gesundheitsfachleuten, Forschern und Unterstützern 

  • Organisation einer Konferenz, um Patienten, Gesundheitsfachleute, Forscher und Unterstützer direkt miteinander ins Gespräch zu bringen.

  • Förderung der Zusammenarbeit mit anderen Stiftungen, um Synergien zu nutzen.

Vorstand

Professor Ronald JA Wanders, PhD

Prof. Dr. Ronald JA Wanders is Professor Emeritus Clinical Enzymology of Metabolic Diseases at the University of Amsterdam and was Head of the Laboratory Genetic Metabolic Diseases, Academic Medical Center, UMC Amsterdam until 01.02.2018.  From the beginning his main research interest has been focused on the Metabolic Functions of Peroxisomes in Health and Disease later followed by additional active research areas including Mitochondrial Fatty Acid Oxidation Disorders and Amino Acid Degradation Disorders. He has published >1000 peer reviewed papers, his H-factor is >75, and 35 students did their PhD under his supervision. He has received numerous awards, gave >250 lectures worldwide and has been Member of a large number of national and international scientific Review Boards and patient organisations. After his formal retirement he continues to work in the Laboratory Genetic Metabolic Diseases on a project basis.

Professor Ronald JA Wanders, PhD

Prof. Dr. Ronald JA Wanders is Professor Emeritus Clinical Enzymology of Metabolic Diseases at the University of Amsterdam and was Head of the Laboratory Genetic Metabolic Diseases, Academic Medical Center, UMC Amsterdam until 01.02.2018.  From the beginning his main research interest has been focused on the Metabolic Functions of Peroxisomes in Health and Disease later followed by additional active research areas including Mitochondrial Fatty Acid Oxidation Disorders and Amino Acid Degradation Disorders. He has published >1000 peer reviewed papers, his H-factor is >75, and 35 students did their PhD under his supervision. He has received numerous awards, gave >250 lectures worldwide and has been Member of a large number of national and international scientific Review Boards and patient organisations. After his formal retirement he continues to work in the Laboratory Genetic Metabolic Diseases on a project basis.

Joseph G. Hacia, PhD

Joseph G. Hacia is an Associate Professor of Biochemistry and Molecular Medicine and Vice Chair for Medical Education at the Keck School of Medicine of the University of Southern California (USC). He earned his Ph.D. in Biology from the California Institute of Technology in Pasadena, CA and completed his postdoctoral work in Medical Genetics at the National Institutes of Health in Bethesda, MD.

 

Dr. Hacia has a long-term commitment to identify therapeutic interventions for peroxisomal disorders by participating in multi-institutional research collaborations while maintaining an independent laboratory at USC. He is active on advisory boards for the United Leukodystrophy Foundation, RhizoKids International, Global Foundation for Peroxisomal Disorders, and Global DARE Foundation.

Radha Ramachandran, MD, PhD

Radha Ramachandran undertook her specialist training in chemical pathology and metabolic medicine at Imperial College Healthcare NHS Trust. She did her sub-speciality training in adult inherited metabolic diseases training at the National Hospital for Neurology and Neurosurgery, Queen Square and Evelina Centre of Inherited Metabolic Diseases.

Professor Anthony S. Wierzbicki, PhD

Professor Anthony Wierzbicki is consultant in metabolic medicine/chemical pathology at Guy’s & St. Thomas’ Hospitals and honorary Professor in Cardiometabolic Disease at King’s College, London.  He has worked in the Refsum disease clinic at the Westminster later Chelsea & Westminster Hospital and now St Thomas’ Hospital since 1994. He has published 20 papers on Refsum disease and was a member of the EU FP7 RDDPT consortium that clarified much of the clinical, biochemical and genetic features of Refsum disease.  He has 300 publications, 19 book chapters and written 1 book. He helped write the International guidelines on Familial Hypercholesterolaemia (2014) and the American Heart Association scientific consensus statement on Familial Hypercholesterolemia (2015).

Eleanor Baldwin, Clinical Dietician

Eleanor Baldwin graduated from Queen Margaret University, Edinburgh with a BSc in Nutrition & Dietetics.  Clinical Dietitian for the Adult Refsum Disease Specialist Clinic at the Chelsea & Westminster Hospital, London (recently moved to St. Thomas’s Hospital) since 2003.  Co-author of several research papers and textbook chapters on diet and adult Refsum Disease.  Advisor to people with Adult Refsum Disease and the health professionals involved in their care in the UK and throughout the world since 2003.

Nancy Braverman, MD, MS

Dr. Nancy Braverman is Clinical Biochemical Geneticist (American Board of Medical Genetics) who leads a bench-to-bedside research program including multidisciplinary collaborations in peroxisome biogenesis and related disorders for over 20 years with academic, family foundation and industry partners- together we are stronger.  She is currently a Professor at McGill University, Departments of Pediatrics and Human Genetics, Division of Medical Genetics and Scientist at the Research iInstitute of the McGill University Health Center. Dr. Braverman is an international leader is the field of Peroxisome Biogenesis Disorders. In her laboratory, she focuses  on translational research that can improve disease outcomes. Originally identifying PEX genes and their protein functions, she constructed novel animal models uniquely suited to study pathophysiology and treatment. She developed a successful drug screening platform in which several hit compounds were identified, and began a retinal gene therapy project. She  is actively involved in the care of these patients, and developed a large international natural history study. She has won several awards for contributions in teaching and commitment to care, and has published over 100 peer reviewed articles.   

Mousumi Bose, PhD

Dr. Mousumi Bose is the mother of Ilan Betzer (2010-2011), who was born with a severe form of Zellweger spectrum disorder (ZSD), a peroxisome biogenesis disorder. Through her experience with her son, Dr. Bose joined the Board of Directors for the Global Foundation for Peroxisomal Disorders (GFPD) and later joined as chair of the GFPD Scientific Advisory Board. Her work with the GFPD has resulted in the first GFPD research grant cycle as well as the first treatment guidelines for PBD-ZSD, which has shown to be an invaluable resource for families affected by ZSD. Dr. Bose is currently an assistant professor at Montclair State University in New Jersey in the Department of Nutrition and Food Studies. Her long-term goal is to combine her training in nutritional sciences with her knowledge and experience with peroxisomal disorders to help improve the quality of life for families affected by rare metabolic disorders.  

Sacha Ferdinanduss, PhD

Sacha Ferdinandussa

Sacha Ferdinanduss, PhD

Sacha Ferdinandussa

Professor Hans R. Waterham, PhD

Professor H.R. Waterham was appointed professor of Functional Genetics of Metabolic Diseases at the University of Amsterdam’s Faculty of Medicine (AMC-UvA) on March 1, 2016. 

 

Since late 1997 Waterham has been associated with the AMC-UvA’s Laboratory Genetic Metabolic Diseases, where he has been research leader since early 1999.

 

He has also managed the laboratory’s accredited DNA diagnostics unit since 1999, and been principal investigator at AMC-UvA since 2006.

Professor Hans R. Waterham, PhD

Professor H.R. Waterham was appointed professor of Functional Genetics of Metabolic Diseases at the University of Amsterdam’s Faculty of Medicine (AMC-UvA) on March 1, 2016. 

 

Since late 1997 Waterham has been associated with the AMC-UvA’s Laboratory Genetic Metabolic Diseases, where he has been research leader since early 1999.

 

He has also managed the laboratory’s accredited DNA diagnostics unit since 1999, and been principal investigator at AMC-UvA since 2006.

Professor Hans R. Waterham, PhD

Professor H.R. Waterham was appointed professor of Functional Genetics of Metabolic Diseases at the University of Amsterdam’s Faculty of Medicine (AMC-UvA) on March 1, 2016. 

 

Since late 1997 Waterham has been associated with the AMC-UvA’s Laboratory Genetic Metabolic Diseases, where he has been research leader since early 1999.

 

He has also managed the laboratory’s accredited DNA diagnostics unit since 1999, and been principal investigator at AMC-UvA since 2006.