Research Faces of MLD

The Premier Family Resource for Metachromatic Leukodystrophy Information & Support





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Links - Doctors

Frequently Requested MLD Researcher & Expert Medical Contacts
(listed alphabetically)

These are not the only medical resources for MLD nor are they necessarily "all knowing" or able to respond to every patient that asks for their help or consultation. You should have a local care team in place for your family member - one that works with you , and responds to your requests and concerns.

Many have found that their local Neurologist is their key care team member and that they work well with these resources. US law prohibits the dispensing of medical advice across state lines to individuals that are not your patient (i.e. the doctor has not personally examined) - but they can work with your local care team to give advice to your doctor..

Researchers & MLD Experts

Alessandro Aiuti, Clinical Research Coordinator, San Raffaele Institute for Gene Therapy HSR-TIGET, Clinical Research Unit (CRU), Milano, Italy
alessandro.aiuti@hsr.it

Dr. Patrick Aubourg - Hôpital Saint Vincent de Paul Paris, FRANCE
patrick.aubourg@inserm.fr

Dr David J Begley, Institute of Pharmaceutical Science, Blood-Brain Barrier Group
Kings College London
Franklin-Wilkins Building Stamford Street London SE1 9NH United Kingdom
Tel: +44 (0)20 7848 4327, email: david.begley@kcl.ac.uk
Dr. Begley is a primary driver and co-founder of the Brains for Brain research consortium

Dr. Nicole Baumann, M.D., Ph.D. Director of Research, Laboratory of Neurochemistry Salpetriere Hospital INSERM Unit 134 Cellular Molecular and Clinical Neurobiology, Salpêtrière Hospital, F-75651 Paris Cedex 13 France
Tel: +33-1-4216-2155 Fax: +33-1-4584-8008, email: nicole.baumann@upmc.fr

Dr. Alessandra Biffi, Director, Gene therapy Program, Dana-Farber/Boston Children’s Cancer and Blood Disorders Center; Director, Program for Cell and Gene Therapy in Rare Diseases, Department of Medicine, Boston Children’s Hospital; Faculty Leader in Gene Therapy, Dana-Farber Cancer Institute
Dana Farber address: 450 Brookline Ave, Smith 1158, Boston, MA 02215
Tel: +1 617-632-2185, email: alessandra.biffi@childrens.harvard.edu
* member of the MLD Foundation's Medical and Scientific Advisory Board

Dr. Kendra J. Bjoraker, Ph.D., L.P. Pediatric Neuropsychologist at 3:1 Neuropsychology Consultants,
P.O. Box 17128, Minneapolis, MN 55417
Tel: +1 720-777-6895, e-mail: bjorakerneuro@gmail.com

Dr. Timothy Cox - Addenbrooke's Hospital - neurologist, clinical neuroscience
University of Cambridge, University Department of Medicine, Box 157, Cambridge University Hospitals, Hills Road, Cambridge. CB2 0QQ
Contact via secretarial staff: Tel: +44 1223 336864 Fax: +44 1223 336846
e-mail: jbg20@medschl.cam.ac.uk
* member of the MLD Foundation's Medical and Scientific Advisory Board

Dr. Christine i Dali, MD - Pediatric Neurologist
Principal Investigator for the 2011 Phase I/II Shire HGT Enzyme replacement Therapy Clinical Trial
University Hospital Copenhagen, Rigshospitalet, Department of Clinical Genetics, Denmark
Tel: + 45 25 22 91 55, e-mail: christine.dali@rh.region.dk
* member of the MLD Foundation's Medical and Scientific Advisory Board

Dr. Florian Eichler - Massachusetts General Hospital/Harvard, Boston, MA
+1 617-726-6093

Dr. Maria Escolar - Neurodevelopmental pediatrician ... MS Director, Program for the Study of Neurodevelopment in Rare Disorders (NDRD), Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center
3414 Fifth Ave, 1st Floor, Suite 108, Pittsburgh, PA 1521
+1 412-692-9956 maria.escolar@chp.edu
She was formerly the with Chapel Hill, NC. based NFRDC: nfrd.unc.edu
* member of the MLD Foundation's Medical and Scientific Advisory Board

Dr. Julie Hauer- Asst. Clinical Professor Harvard Medical School, Medical Director Seven Hills Pediatric Center, Complex Pediatric Care Specialist at Boston Children's Hospital - Pediatric Palliative & Pain Care Specialist.
Julie.Hauer@childrens.harvard.edu
* member of the MLD Foundation's Medical and Scientific Advisory Board

Dr. John Hopwood - Adelaide Women's & Children's Hospital, Lysosomal Diseases Research Unit
72 King William Road, North Adelaide, South Australia 5006, Australia
(08) 8161 7293, john.hopwood@adelaide.edu.au

Dr. Mark Hughes - Genesis Genetics Institute - Preimplantation Genetic Diagnosis (PGD) including laboratory services for in-vitro fertilization (IVF).
+1 313-579-9650

Krzysztof Kałwak, MD, PhD, Prof. Department of Pediatric Hematology/Oncology and BMT
Wroclaw Medical University, Supraregional Center of Pediatric Oncology "Cape of Hope"
213 Borowska St., 50-556 Wroclaw, Poland
tel. (48)-71-7332840, fax (48)-71-7332709, klin@pedhemat.am.wroc.pl

Dr. Edwin H. Kolodny - Chairman, Department of Neurology (Genetics), University of New York
+1 212-263-6347

Dr. Ingeborg Kraegeloh-Mann - Professor of Paediatrics, Managing Director University Children's Hospital, Medical Director Department of Paediatrics and Developmental Neurology
Eberhard Karls University Children Hospital Tübingen, Germany

Joanne Kurtzberg MD - Jerome S. Harris Professor of Pediatrics, Chief Scientific Officer, Robertson Clinical and Translational Cell Therapy (CT2) Program
Duke UNiversity, Box 3350 Med Ctr, Durham, NC 27710
+1 919-668-1119, Fax: +1 919-668-1183 kurtz001@mc.duke.edu

Charles Marques Lourenco, MD. - Neurogenetics Unit. Department of Medical Genetics
School of Medicine of Ribeirao Preto. University of Sao Paulo. Brazil
Address: Av. Bandeirantes, 3900. Mte Alegre, Ribeirão Preto - SP. BRAZIL – CEP: 14049-900
Phone: +55 16 36022616; Fax: +55 16 36022391; Mobile: +55 16 91769054 marqueslou@usp.br

Gustavo H.B. Maegawa - Johns Hopkins, Baltimore - Institute of Genetic Medicine Department of Pediatrics
+1 443-287-3505, Fax: +1 410-502-5677 gmaegaw1@jhmi.edu

Dr. Paul Orchard - University of Minnesota - Inherited Metabolic and Storage Disease Bone Marrow Transplantation Program
+1 612-626-2961 orcha001@umn.edu

Dr. Marc Patterson, Pediatric Neurologist - Mayo Clinic, Rochester, MN - Neurogenetics, neurodevelopmental disorders, and inherited metabolic disorders ... including neonatal screening, prospective natural history studies, biomarkers and novel therapeutics.
+1 507-284-1588, 200 First St.. SW, Rochester, MN 55905 ... referring physician info page* member of the MLD Foundation's Medical and Scientific Advisory Board

Dr. Vinod Prasad - Duke University, North Carolina - Pediatric Bone Marrow and Stem Cell Transplant Program
+1 919-668-0442 prasa004@mc.duke.edu

Dr. Michel Philippart - UCLA Brain Research Institute, Professor of Psychiatry and Biobehavioral Sciences, Pediatrics, and Neurology, Los Angeles, CA
+1 310-825-5061 mphilipp@ucla.edu

Dr. Maria-Grazia Roncarolo - Chief of the Division of Pediatric Translational and Regenerative Medicine and Co-Director of the Institute for Stem Cell Biology and Regenerative Medicine, Stanford University
Lorry I. Lokey Stem Cell Research Building, 265 Campus Drive, Stanford, CA 94304-5454 mg1@stanford.edu

Dr. Tony Rupar - Director of the Biochemical Genetics Laboratory & Scientist Children's Health Research Institute, University of Western Ontario Canada
+1 519-858-2774 x 2204 Tony.Rupar@lhsc.on.ca

Dr. Maurizio Scarpa, MD PhD - Director of Institute for Rare Diseases at the Department of Pediatrics of the Horst Schmidt Klinik, Wiesbaden. President and co-founder of the Brains for Brain Clinical Research Institute
Dr. Horst Schmidt Kliniken GmbH, Ludwig-Erhard-Str. 100, 65199 Wiesbaden Germany
+1 +49 (0) 611 43 – 2325 maurizio.scarpa@brains4brain.eu
Dr. Scarpa is a primary driver and co-founder of the Brains for Brain research consortium

Dr. Caroline Sevin - Pediatric Neurology and Endocrinology - Hôpital Saint Vincent de Paul Paris, FRANCE
+33 (0)1 40 48 80 74 caroline.sevin@inserm.fr

Dr. Martha Solano - Department of Neuropediatrics
Fundacion Cardioinfantil - Institute of Cardiology
Pediatric Hospital, Bogota Colombia
Calle 163 AN° 13B-60 Bogota C/marca, Colombia - Sur América
Expert center: (571) 3078118

Paul Szabolcs MD - Professor of Pediatrics and Immunology; Chief, Division of Blood and Marrow Transplantation and Cellular Therapies, Children's Hospital of Pittsburgh of UPMC
+1 412 692 6225 paul.szabolcs@chp.edu

Dr. Elsa Shapiro - Shapiro Neuropsychology Consulting. Part-time faculty, Neuropsychology - University of Minnesota
+1 503 789 6978 elsa.shapiro@shapiroanddelaney.com or shapi004@umn.edu

Paul Szabolcs, MD - Chief, Division of Blood and Marrow Transplantation and Cellular Therapies and Professor, Pediatrics, University of Pittsburgh School of Medicine
4401 Penn Avenue, Floor 9, Pittsburgh, PA 15224
+1 412-692-6740 paul.szabolcs@chp.edu

Dr. Jakub Tolar - University of Minnesota - Director, Stem Cell/Gene Therapies - Blood and Marrow Transplantation
+1 612-625-2912 tolar003@umn.edu

Adeline Vanderver, Attending Physician in the Division of Neurology, Program Director of the CHOP Leukodystrophy Center, and Jacob A. Kamens Endowed Chair in Neurologic Disorders and Translational Neurotherapeutics at Children's Hospital of Philadelphia (CHOP)
+ 1-800-TRY-CHOP vandervera@email.CHOP.edu
* member of the MLD Foundation's Medical and Scientific Advisory Board

Keith van Haren, MD – Child Neurologist and Assistant Professor of Neurology, Stanford University
730 Welch Rd Ste 206, Palo Alto, CA 94304
+1 650-723-0993 kpv@stanford.edu

Dr. Amy Waldman - Medical Director - CHOP Leukodystrophy Center, and a pediatric neurologist at The Children's Hospital of Philadelphia (CHOP)
+1 215-590-1719 waldman@email.chop.edu

Dr. David A. Wenger - Lysosomal Diseases Testing Laboratory, Jefferson Medical College, Pennsylvania * member of the MLD Foundation's Medical and Scientific Advisory Board
Please use the links below to obtain test information to give to your local lab/doctor.
+1 215-955-1666 Fax: +1 215-955-9554 David.Wenger@jefferson.edu
- For information on how to submit samples for testing click here.
- Also see general MLD testing information here
* member of the MLD Foundation's Medical and Scientific Advisory Board

Dr. Callum Wilson - Metabolic Paediatrician, National metabolic consultant and Newborn Testing Center coordinator - Starship Children's Hospital, Ward 26B, PO Box 872, Auckland NEW ZEALAND
Phone: (64 9) 3074949 ext. 6748, Mobile: 021 555 392 callumw@adhb.govt.nz

Dr. Esko Wiltshire - Metabolic Paediatrician, University of Otago, Wellington NEW ZEALAND
Phone: (64 4) 385 5999 x 6912 esko.wiltshire@otago.ac.nz


UNSPECIFIED & UNKNOWN LEUKODYSTROPHIES

Dr. Vanderver and Dr. van der Knaap are highly respected and we feel the primary "go to" for assistance with unknown and unspecified leukodystrophies. They will normally work with your local neurologist to try to help with your diagnosis.

USA

Adeline Vanderver, Attending Physician in the Division of Neurology, Program Director of the CHOP Leukodystrophy Center, and Jacob A. Kamens Endowed Chair in Neurologic Disorders and Translational Neurotherapeutics at Children's Hospital of Philadelphia (CHOP)
+ 1-800-TRY-CHOP vandervera@email.CHOP.edu
* member of the MLD Foundation's Medical and Scientific Advisory Board

EUROPE

M.S. van der Knaap, MD PhD Professor of Child Neurology - VU University Medical Center
De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
+31 20 4444856, Fax: +31 20 4440849 ms.vanderknaap@vumc.nl

NIH Undiagnosed Diseases Program

The US National Institute of Heath has an undiagnosed disease program that might be of value if you have exhausted all other alternatives. More information can be found here:
http://rarediseases.info.nih.gov/Resources.aspx?PageID=31


ADRENOLEUKODYSTROPHY (ALD/AMN)

Dr. Florian Eichler - Massachusetts General Hospital/Harvard, Boston, MA
+1 617-726-6093

Ann Moser, B.A. - Research Associate in Neurology - Kennedy Krieger Institute, Baltimore MD
+1 443 -923-2761 mosera@kennedykrieger.org


Also See:

Medical Links(hospitals, articles)

Education Links

Compassion Links

 


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