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

Laura Adang, MD, PhD ... Neurologist ... Assistant Professor of Child Neurology at the Children's Hospital of Philadelphia (CHOP), specializing in the care of children with multiple sclerosis, white matter, and neuro-inflammatory disorders. An active member of GLIA, the Global Leukodytstophy Initiative
Tel: +1 215-590-1710, email: [email protected]
* member of MLD Foundation's Medical and Scientific Advisory Board

Alessandro Aiuti, Clinical Research Coordinator, San Raffaele Institute for Gene Therapy HSR-TIGET, Clinical Research Unit (CRU), Milano, Italy
[email protected]

Dr. Patrick Aubourg - Hôpital Saint Vincent de Paul Paris, FRANCE
[email protected]

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: [email protected]
Dr. Begley is a primary driver and co-founder of the Brains for Brain research consortium

Dr. Alessandra Biffi, Professor of Pediatrics, University of Padua and Chief of the Pediatric Onco-hematology Unit of Padua Hospital - former PI, San Rafaelle gene therapy clinical trial
Via Nicolò Giustiniani, 2, 35128 Padua PD, Italy
Altheia Science (Milano, Italy) – Co-Founder and Board member
* member of 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: [email protected]

Annette Bley MD Neuropediatics and Palliative Medicine
University Children’s Hospital University Medical Center Hamburg-Eppendorf
Martini-Str. 52, 20246 Hamburg, Germany
Tel: +49 40 7410 56391, e-mail: [email protected]

Josh Bonkowsky, MD, PhD, Bray Presidential Chair in Child Neurology, Chief Division of Pediatric Neurology
University of Utah
81 Mario Capecchi Dr., Salt Lake City, UT 84113
Tel: +1 801.213.3599, e-mail: [email protected]

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: [email protected]
* member of 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: [email protected]
* member of MLD Foundation's Medical and Scientific Advisory Board

Dr. Florian Eichler - Director of the Leukodystrophy Service at MGH – Massachusetts General Hospital/Harvard, Boston, MA
+1 617-726-6093 e-mail: [email protected]

Dr. Maria Escolar - Neurodevelopmental pediatrician ... MD 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 15224
+1 412-692-9956 [email protected] FAX:+1 412 692-9900
* member of MLD Foundation's Medical and Scientific Advisory Board

Dr. Francesca Fumagalli- Neurologist, San Raffaele Telethon Institute for Gene Therapy (SR-Tiget),
Ospedale San Raffael, Via Olgettina, 60 – 20132 Milano, Italy
[email protected]

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. Author of Caring for Children Who Have Severe Neurological Impairment Boston, Massachusetts, USA
[email protected]

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, [email protected]

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, [email protected]

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 [email protected]

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 [email protected]

Gustavo H.B. Maegawa - Johns Hopkins, Baltimore - Institute of Genetic Medicine Department of Pediatrics
+1 443-287-3505, Fax: +1 410-502-5677 [email protected]

Dr. Paul Orchard - University of Minnesota - Inherited Metabolic and Storage Disease Bone Marrow Transplantation Program
+1 612-626-2961 [email protected]

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 MLD Foundation's Medical and Scientific Advisory Board

Dr. Vinod Prasad, Director and Professor, Pediatric Bone Marrow Transplant & Cellular Therapy - Duke University, North Carolina
+1 919-668-0442 [email protected]

Dr. Michel Philippart - UCLA Brain Research Institute, Professor of Psychiatry and Biobehavioral Sciences, Pediatrics, and Neurology, Los Angeles, CA
+1 310-825-5061 [email protected]

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 [email protected]

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 [email protected]

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 [email protected]
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 [email protected]

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 [email protected]

Dr. Elsa Shapiro - Shapiro Neuropsychology Consulting. Part-time faculty, Neuropsychology - University of Minnesota
+1 503 789 6978 [email protected] or [email protected]

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 [email protected]

Dr. Jakub Tolar - University of Minnesota - Director, Stem Cell/Gene Therapies - Blood and Marrow Transplantation
+1 612-625-2912 [email protected]

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 [email protected]
* member of 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 [email protected]

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

Dr. David A. Wenger - Lysosomal Diseases Testing Laboratory, Jefferson Medical College, Pennsylvania * member of 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 [email protected]
- For information on how to submit samples for testing click here.
- Also see general MLD testing information here
* member of 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 [email protected]

Dr. Esko Wiltshire - Metabolic Paediatrician, University of Otago, Wellington NEW ZEALAND
Phone: (64 4) 385 5999 x 6912 [email protected]

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 [email protected]
* member of 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 [email protected]

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

Dr. Florian Eichler - director of the Leukodystrophy Service at MGH – Massachusetts General Hospital/Harvard, Boston, MA
+1 617-726-6093 e-mail: [email protected]

Dr. Ali Fatimi - Pediatric neurologist, irector of the Division of Neurogenetics and the Moser Center for Leukodystrophies, and an investigator at the Hugo W. Moser Research Institute at Kennedy Krieger Institute. Dr. Fatemi is also an associate professor of neurology and pediatrics at Johns Hopkins University.
 +1 443-923-2750 e-mail: [email protected]

Ann Moser, B.A. - Research Associate in Neurology - Kennedy Krieger Institute, Baltimore MD
+1 443-923-2761 [email protected]

Also See:

Medical Links(hospitals, articles)

Education Links

Compassion Links