• Fanconi Anemia Treatment and Management Resource Guide


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    • Abstract: Sister Lucille Wood, Hematology Coordinator and Head Nurse ... Children's Hospital Boston, Hematology Clinic. 300 Longwood Avenue, Boston, MA 02115. Alan D'Andrea, MD, Professor of Pediatrics, Director, The ...

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Fanconi Anemia Treatment and Management Resource Guide
Editors’ Note and Disclaimer: The resources provided in this guide are not meant to be inclusive.
The reader should not consider the resources listed here to be endorsements by the Fanconi Anemia
Research Fund, Inc.
Apollo Specialty Hospital
320 “Padma Complex”
Anna Salai
Chennai 600 035
India
[email protected]
Dr. Sheila Mohan, MBBS, DCH, PhD
Phone: 91-44-24912943 Mobile: 91-92-82114661
Dr. Revathi Raj, MBBS, DCH, MRCP (Path)
Phone: 91-44-24331741, Ext 2509
Services Offered
Complete evaluation, treatment and follow-up of new and previously diagnosed FA patients;
Provide information and assistance for physicians in the care of their FA patients;
Cancer screening and specialist consultations;
Diagnostic testing (MMC test) and screenings of siblings;
Complementation grouping (in process of development);
Genetic counseling;
Stem cell transplantation;
Maintenance of national database: Registry for Fanconi Anemia in India (REFRAIN).
Charité, Campus Virchow Klinikum, University Medicine, Berlin
Children’s Hospital
Augustenburger Platz 1
13353 Berlin
Germany
Wolfram H. Ebell, MD
[email protected]
Phone: 49-30-450-566-014 Fax: 49-30-450-566-919
Services Offered
Pediatric bone marrow transplant service;
Stem cell laboratory;
Stem cell bank;
Cytogenetic laboratory;
German Fanconi anemia registry.
3
Please note, when calling international numbers from within the US, dial 011, then the complete number.
Children’s Hospital Medical Center, The Fanconi Anemia Comprehensive Care Center
3333 Burnet Avenue
Cincinnati, OH 45229
Richard Harris, MD, Professor of Pediatrics, Division of Hematology/Oncology, Blood and Marrow
Transplant Program, Director of Bone Marrow Failure Clinic
[email protected]
Phone: (513) 636-8610 Fax: (513) 636-7951
Frank O. Smith, MD, Marjory J. Johnson Endowed Chair and Professor of Pediatrics, Director, Division
of Hematology/Oncology
[email protected]
Phone: (513) 636-8811 Fax: (513) 636-2034
David Williams, MD, Beatrice C. Lampkin Chair and Professor of Pediatrics, Director, Division of
Experimental Hematology, Associate Chair for Translational Research
[email protected]
Phone: (513) 636-0364 Fax: (513) 636-3768
Robin Mueller, RN, Nurse Coordinator, Fanconi Anemia Comprehensive Care Center
[email protected]
Phone: (513) 636-3218 Fax: (513) 636-7951
Parinda Mehta, MD, Assistant Professor of Pediatrics, Division of Hematology/Oncology, Blood and
Marrow Transplant Program
[email protected]
Phone: (513) 636-5917 Fax: (513) 636-3549
Stella Davies, MB BS, PhD, MRCP, Jacob G. Schmidlapp Endowed Chair and Professor of Pediatrics,
Director, Blood and Marrow Transplant Program, Division of Hematology/Oncology
[email protected]
Phone: (513) 636-1371 Fax: (513) 636-3549
Services Offered
Evaluation of new and previously diagnosed patients;
Personalized treatment regimens by specialists in bone marrow transplantation, cardiology;
endocrinology, genetics, hematology, nephrology, urology, orthopedics, hand surgery, social work and
family support network;
Gene therapy, pharmacological and other clinical trials (such as with cytokines, novel androgens, and
etanercept);
Fanconi anemia repository for samples and data;
Expertise in matched sibling donor and unrelated donor transplantation for Fanconi anemia;
Fanconi anemia complementation analysis;
Stem cell collection, storage, and reinfusion;
Collaborator, International Fanconi Anemia Registry (Arleen Auerbach, PhD).
Cincinnati Hand Surgery Specialists
10700 Montgomery Rd., Suite 150
Cincinnati, OH 45242
Thomas R. Kiefhaber, MD
[email protected]
Phone: (513) 961-4263
4
Please note, when calling international numbers from within the US, dial 011, then the complete number.
Cincinnati Hand Surgery Specialists (cont’d)
Services Offered
Hand Surgery Consultant to the Cincinnati Children’s Hospital, Fanconi Anemia Comprehensive Care
Center;
Reconstructive surgery for children with congenital differences of the hand.
Constantiaberg Medi-Clinic
Department of Haematology and Bone Marrow Transplant Unit Incorporating the Searll Research Laboratory
for Cellular and Molecular Biology
PO Box 294
Plumstead, Cape Town
South Africa, 7801
Professor Peter Jacobs, MD, PhD
[email protected]
Phone: 27-21-799-2569 Fax: 27-21-761-4278
Sister Lucille Wood, Hematology Coordinator and Head Nurse
Services Offered
Adult and pediatric bone marrow and peripheral blood hematopoietic stem cell program;
Special interest in new conditioning regimens for patients with FA;
Participation in gene therapy project with Professor Christopher Walsh, MD, Mount Sinai School of
Medicine, New York;
Association with Grover Bagby, MD, Oregon Health & Science University, in transcriptome database;
Basic science and translational stem cell research in the Searll Research Laboratory for Cellular and
Molecular Biology.
Dana-Farber Cancer Institute, Comprehensive Fanconi Anemia Center
44 Binney Street, Boston, MA 02115
Children’s Hospital Boston, Hematology Clinic
300 Longwood Avenue, Boston, MA 02115
Alan D’Andrea, MD, Professor of Pediatrics, Director, The Comprehensive Center for Fanconi Anemia
Akiko Shimamura, MD, PhD, Director, Bone Marrow Failure Clinic, Children’s Hospital, Boston
[email protected]
Phone: (617) 919-2508 Fax: (617) 730-0934
Lisa A. Moreau, MS, CLSpCG, Supervisor of Clinical Laboratory
Phone: (617) 632-6302
Services Offered
Clinical consultation for the diagnosis, management and treatment of FA through the Bone Marrow
Failure Clinic, Division of Hematology, Children’s Hospital;
Coordination of multidisciplinary medical care;
Diagnosis of new FA patients through Clinical Laboratory Improvement Act (CLIA) certified
diepoxybutane (DEB) test;
5
Please note, when calling international numbers from within the US, dial 011, then the complete number.
Dana-Farber Cancer Institute, Comprehensive Fanconi Anemia Center and
Children’s Hospital Boston, Hematology Clinic (cont’d)
Research Studies
FA subtyping, gene mutational screening, carrier detection, cell repository (blood, bone marrow, skin
and tumor samples);
FA therapeutics: hematopoietic stem cell transplant, gene therapy;
Molecular mechanisms underlying FA.
Duke University Medical Center
Box 3350 DUMC
2400 Pratt Street, Suite 1400
Durham, NC 27705
Joanne Kurtzberg, MD, Professor of Pediatrics and Pathology, Director, Pediatric Blood and Marrow
Transplant Program, Director, Carolinas Cord Blood Bank at Duke
[email protected]
Phone: (919) 668-1119 Fax: (919) 668-1183
Services Offered
Pediatric bone marrow transplant program including a 16-bed inpatient unit, dedicated outpatient clinic
and day hospital;
Matched sibling, haploidentical, and unrelated stem cell transplants;
Comprehensive evaluation and education from initial contact with the program;
Family support throughout all phases of care;
Umbilical cord blood bank and stem cell laboratory.
Fred Hutchinson Cancer Research Center
1100 Fairview Ave N, D1-100
Seattle, WA 98109
Hans-Peter Kiem, MD, Associate Member, Fred Hutchinson Cancer Research Center, Investigator,
Markey Molecular Medicine Center, Adjunct Associate Professor of Pathology, Associate Professor of
Medicine, University of Washington School of Medicine
[email protected]
Phone: (206) 667-4425 Fax: (206) 667-6124
Services Offered
Nonmyeloablative stem cell transplantation with related and unrelated donors;
Collaboration with Hospital de Clinicas, University of Parana, Brazil (Ricardo Pasquini, MD, PhD).
The Genesis Genetics Institute, Genomic Technology Center
5555 Conner Ave
Suite A-2064
Detroit, MI 48213
www.genesisgenetics.org
6
Please note, when calling international numbers from within the US, dial 011, then the complete number.
The Genesis Genetics Institute, Genomic Technology Center (cont’d)
Mark Hughes, MD, PhD
[email protected]
Phone: (313) 544-4006 Fax: (313) 544-4006
Shannon Wiltse, MS, CGC, Certified Genetic Counselor
[email protected]
Phone: (313) 544-4006 Fax: (313) 544-4006
Services Offered
Pre-pregnancy/pre-implantation diagnosis of FANC A, C, G. Helping a couple begin a pregnancy
knowing their baby will not have Fanconi anemia;
Extensive experience in Fanconi mutation testing with HLA identity matching for families desiring a
healthy baby and cord blood stem cells that are a perfect match to their Fanconi-affected child needing
stem cell transplantation;
Personalized treatment regimens coordinated with the family’s hematologist, geneticist, obstetrician,
and (if necessary) transplantation doctors. The FA family does not need to travel anywhere for these
PGD services. Our clinic collaborates with the leading molecular biologists in Fanconi research, with
over 90 in vitro fertilization programs, and with internationally respected Fanconi transplantation
experts.
Hackensack University Medical Center
30 Prospect Avenue
Hackensack, NJ 07601
Alfred P. Gillio, MD
[email protected]
Phone: (201) 996-5600 Fax: (201) 996-0521
Barbara Adler-Brecher, MS
[email protected]
Services Offered
Diagnosis and genetic counseling;
Comprehensive medical treatment including gynecology and ENT specialists;
Matched sibling and unrelated donor transplants.
Hadassah Hospital
Ein Kerem
Jerusalem 91120 Israel
Shimon Slavin, MD, Department of Bone Marrow Transplantation and Cancer Immunotherapy
[email protected]
Phone: 972-2-677-7270 Fax: 972-2-642-2731 or 972-2-643-6151
After hours, home: 972-2-643-0279
Menachem Bitan, MD, Department of Bone Marrow Transplantation and Cancer Immunotherapy
[email protected]
Phone: 972-2-677-7270 Fax: 972-2-642-2731 Mobile: 972-2-642-2731
7
Please note, when calling international numbers from within the US, dial 011, then the complete number.
Hadassah Hospital (cont’d)
Services Offered
Stem cell transplantation using a reduced intensity, non-myeloablative or myeloablative preparatory
regimen;
Transplantation of every patient in need, including multiply transfused, pre-leukemic, and fully
leukemic patients, those with fully matched sibling, matched unrelated, partially or haploidentically
mismatched family member donors utilizing stem cells derived from bone marrow, peripheral-blood or
cord-blood. Several immunotherapy protocols are available for patients with resistant hematologic
malignancy and metastatic solid tumors.
Heinrich Heine University Medical Center
Children’s Hospital
Moorenstrasse 5
40225 Düsseldorf, Germany
Helmut Hanenberg, MD, Department of Pediatric Hematology, Oncology and Clinical Immunology,
Department of Pediatrics, Wells Center for Pediatric Research, Indiana University School of Medicine,
Indianapolis, IN
[email protected]
Phone: 49-211-811-61037-7680 Fax: 49-211-811-6436
Eunike Velleuer, Department of Pediatric Hematology, Oncology and Clinical Immunology
[email protected]
Arndt Borkhardt, MD, Director, Department of Pediatric Hematology, Oncology and Clinical
Immunology
[email protected]
Phone: 49-211-811-7680 Fax: 49-211-811-6206
Services Offered
Primary diagnosis, blood work, transfusions and bone marrow harvests of pediatric patients with
hematological, malignant or immunological disprders (also for the National Marrow Donor Program -
NMDP);
Autologous and allogenic stem cell transplantation;
FA multidisciplinary out- and in-patient care;
FA complementation group analysis on peripheral blood T-cells, bone marrow cells, fibroblasts and B-
cell lines for groups A, B, C, D1, D2, E, F, G, L, J, M, N;
Close collaboration with Detlev Schindler, University of Würzburg, on FA-related clinical and
scientific issues;
Cooperation with Ruud Brakenhoff, University of Amsterdam, on “Progression of FA-SCC and
Development of a Non-Invasive Screening Method for Precursor Lesions”;
Preclinical testing of alternative treatment and gene therapy approaches in animal models in cooperation
with Wade Clapp, Laura Haneline, Karen Pollok and Kenneth Cornetta at the Indiana University
School of Medicine, Indianapolis, IN;
Close cooperation with the two German FA family support groups Deutsche FA-Hilfe e.V. (Ralf
Dietrich) and Aktionskreis Fanconi Anemia e.V.
8
Please note, when calling international numbers from within the US, dial 011, then the complete number.
Hôpital Saint-Louis
Bone Marrow Transplant Unit
1 avenue Claude Vellefaux
75010 Paris
France
Eliane Gluckman, MD, Head Professor
[email protected]
Phone, direct: 33-142-499-644
Secretary: 33-142-499-639 Fax: 33-142-499-634
Jean Soulier, MD, PhD, Associate Professor, Genome Rearangements and Cancer Group, Hematology
Laboratory
[email protected]
Phone: 33-142-499-891 Fax: 33- 153-722-217
Attending Physicians: Pr. Gerard Socie, Dr. Agnes Devergie, Dr. Helene Esperou, Dr. Christelle Ferry,
Dr. Thierry Leblanc, Dr. Vanderson Rocha
Services Offered
Bone marrow, peripheral stem cell, and cord blood transplants;
FA diagnosis and characterization: breakage tests, cell cycle, FANCD2 analysis, mosaicism on skin
biopsy, retroviral group complementation, bone marrow karyotype (Dr. Jean Soulier);
Cell therapy laboratory (Dr. Jerome Larghero);
Gene therapy laboratory (Pr. Yves Beuzard, Pr. Philippe Leboulch);
Head and neck cancer evaluation and treatment (Dr. Pascal).
Hospital de Clinicas, University of Parana
Rua General Carneiro, 181 – 15º andar
80001-970-Curitiba-PR
Brazil
Ricardo Pasquini, MD, PhD
[email protected]
Phone: 55-41-3360-1007 Fax: 55-41-3360-1015
Services Offered
A comprehensive clinic for FA patients;
Out-patient unit for diagnostic procedures and treatment;
Cytogenetics laboratory performing DEB chromosomal breakage testing and conventional cytogenetics
of bone marrow;
Transplant unit performing related and unrelated bone marrow and umbilical cord transplants.
Hospital Ste-Justine
3175 Cote-Ste-Catherine
Montréal, Québec H3T 1C5
Canada
Josette Champagne, MD, Bone Marrow Failure Program
champaj@medclin.[email protected]
9
Please note, when calling international numbers from within the US, dial 011, then the complete number.
Hospital Ste-Justine (cont’d)
Martin Champagne, MD, FRCPC, Bone Marrow Transplant Program
[email protected]
Phone: (514) 345-4830 (appointments), (514) 345-4969 (clinical research) Fax: (514) 345-4884
Services Offered
Diagnostic testing;
Related and unrelated marrow and cord blood transplantation;
Designated (sibling) cord blood storage when required;
Diagnostic and therapeutic services restricted to Canadian citizens.
Memorial Sloan-Kettering Cancer Center
1275 York Avenue
New York, NY 10021
Farid Boulad, MD, Pediatric Hematology and Bone Marrow Transplantation
[email protected]
Phone: (212) 639-6684 Fax: (212) 717-3447
Bhuvanesh Singh, MD, PhD, Head and Neck Cancer
[email protected]
Phone: (212) 639-2024
Mercedes Castiel, MD, Gynecology
[email protected]
Phone: (212) 639-5060
Services Offered
Comprehensive care and long-term follow-up of new and previously diagnosed patients, including:
hematopoietic stem cell transplantation with related, unrelated, matched or mismatched donors, head
and neck cancer evaluation and treatment, gynecological cancer evaluation and treatment, and
endocrinology clinic;
Direct collaboration with Arleen Auerbach, PhD, The Rockefeller University, for diagnosis, mutation
screening, complementation group analysis, and somatic mosaicism studies;
Cell biology research on hematopoietic stem cells and progenitor populations in neoplastic and genetic
diseases.
Mount Sinai School of Medicine
Novel Therapeutics and Stem Cell Transplantation Program
Division of Hematology-Oncology
Annenberg 24-42, Box 1079
One Gustave L. Levy Place
New York, NY 10029
Christopher Walsh, MD, Associate Professor of Medicine
[email protected]
Phone: (212) 241-3554
Luis Isola, MD, Director, Stem Cell Transplantation Program
Anne Hurlet, MD, Associate Professor of Pediatrics
10
Please note, when calling international numbers from within the US, dial 011, then the complete number.
Mount Sinai School of Medicine (cont’d)
Services Offered
Adult and pediatric FA patients can be seen by specialists in adult medicine and pediatrics;
Complete hematologic evaluation/treatment and cancer surveillance;
Recommendations for stem cell transplantation (related and unrelated donor) at Mount Sinai School of
Medicine and elsewhere;
Future clinical trials for FA-associated myelodysplastic syndrome;
Collaboration with Arleen Auerbach, PhD, The Rockefeller University, on genetic analysis;
Complementation screening.
National Cancer Institute
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Institutes of Health
6120 Executive Blvd., Executive Plaza South, Room 7020
Rockville, MD 20892-7231
www.marrowfailure.cancer.gov
Blanche P. Alter, MD, MPH
[email protected]
Phone: (301)594-7642 Fax: (301) 496-1854
Services Offered
Comprehensive clinical evaluation by all subspecialties;
All clinical laboratory tests;
Cancer screening, age and sex appropriate, such as head, neck and esophagus, and gynecological;
Bone marrow aspirate, biopsy, and cytogenetics;
Chromosome breakage studies in a CLIA-certified clinical laboratory;
Genetic counseling and mutation analysis in a CLIA-certified clinical laboratory;
Comprehensive evaluation of all immediate family members (with the exception of bone marrow
studies);
Epidemiologic study of cancer in patients and in family members.
National Heart, Lung, and Blood Institute
Building 10, CRC 3E-5140
10 Center Drive, MSC 1202
Bethesda MD 20892-1202
Phone: (301) 402-0764
Neal Young, MD, Chief, Hematology Branch
Richard Childs, MD, Hematology Branch
Services Offered
Second opinion regarding diagnosis and management of constitutional bone marrow failure states.
11
Please note, when calling international numbers from within the US, dial 011, then the complete number.
Oregon Health & Science University, Doernbecher Children’s Hospital
3181 S.W. Sam Jackson Park Road
Portland, OR 97239
Peter Kurre, MD, Assistant Professor, Division of Pediatric Hematology/Oncology
[email protected]
Phone: (503) 494-1543 Fax: (503) 494-0714
Services Offered
Diagnostic evaluation and genetic counseling for FA and other marrow failure syndromes;
Comprehensive medical treatment;
Stem cell transplantation;
Research studies investigating molecular diagnostics, cytogenetics, complementation group subtyping,
leukemogenesis and genetics of Fanconi anemia.
The Reproductive Genetics Institute
2825 N Halsted St.
Chicago, IL 60657
www.reproductivegentics.com
[email protected]
Phone: (773) 472-4900 Fax: (773) 871-5221
Allen Horwitz, MD, PhD
Renee Genovese, MS, CGC
Dana Pauling, MS, CGC
Christina Lavin, MS, CGC
Services Offered
Pre-implantation genetic diagnosis for known Fanconi mutations with or without HLA matching for
sibling bone marrow donation (from cord blood).
The Rockefeller University
Laboratory of Human Genetics and Hematology (Box 77)
1230 York Avenue
New York, NY 10021
Arleen D. Auerbach, PhD
[email protected]
Phone: (212) 327-7533, or 8862 Fax: (212) 327-8262
http://www.rockefeller.edu/labheads/auerbach/auerbach.html
Services Offered
Clinical Genetics Services
Postnatal diagnosis of Fanconi anemia, (FA) including reporting of somatic mosaicism;
Prenatal diagnosis of Fanconi anemia in first trimester through chorionic villus sampling,
(CVS), and second trimester through amniocentesis, or percutaneous umbilical blood sampling;
12
Please note, when calling international numbers from within the US, dial 011, then the complete number.
The Rockefeller University (cont’d)
FA complementation group analysis using retroviral vectors (currently for groups FA-A, B, C, E, F, G,
J);
Mutation screening for FA families once the complementation group is known;
Carrier detection for FA-C mutations in any individual of Ashkenazi Jewish (AJ) origin, or non-Jewish
partner of a known carrier of the AJ mutation in FA-C.
Genetic Services on Research Protocols
International Fanconi Anemia Registry;
Incidence of cancer in FA carriers;
DNA instability and genetic alterations in FA: A model for carcinogenesis;
PGD/IVF: a collaboration with Dr. Mark Hughes (provide genetic information to enable the
development of an assay for PGD);
Collaboration with the Fanconi Anemia Gene Therapy Group (Dr. David Williams, et al) to provide
genetic information for patients eligible for future gene therapy trials.
St. Jude Children’s Research Hospital
332 N. Lauderdale St.
Memphis, TN 38104
Ulrike Reiss, MD
[email protected]
Phone: (901) 495-4753 Fax: (901) 495-2952
Martha Rieman, FNP, Bone Marrow Failure Nurse Practitioner
[email protected]
Phone: (901) 495-2173
Melody Cunningham, MD
[email protected]
Services Offered
Bone Marrow Failure Clinic;
Comprehensive care, including subspecialties;
Participation in FA research in conjunction with other centers.
Schneider Children’s Hospital, Albert Einstein School of Medicine
Bone Marrow Failure Program
Division of Hematology/Oncology and Stem Cell Transplantation
269-01 76th Ave., Room 225
New Hyde Park, New York 11040
Adrianna Vlachos, MD, Assistant Professor of Pediatrics, Head, Bone Marrow Failure Program and
Associate Head, Stem Cell Transplant Program
[email protected]
Phone: 718-470-3611
Johnson M. Liu, MD, Les Nelkin Professor of Pediatrics, Head, Section of Experimental Hematology and
Les Nelkin Memorial Pediatric Oncology Research Laboratory
13
Please note, when calling international numbers from within the US, dial 011, then the complete number.
Schneider Children’s Hospital, Albert Einstein School of Medicine (cont’d)
Jeffrey M. Lipton, MD, PhD, Professor of Pediatrics, Chief, Division of Hematology/Oncology and Stem
Cell Transplantation
Services Offered
Bone Marrow Failure Clinic offering comprehensive evaluation of adult and pediatric FA patients by an
experienced team of multidisciplinary specialists directed by medical and pediatric hematologists;
Hematopoietic Stem Cell Transplant Program offering expertise in transplantation in bone marrow
failure syndromes;
Experimental Hematology Program studying molecular mechanisms of hematopoietic failure and
oncogenesis in FA and other bone marrow failure syndromes.
Shriners Hospital for Children
3551 North Broad St.
Philadelphia, PA 19140
Scott Kozin, MD
[email protected]
Phone: (215) 430-4034
Linda Filipone, Nurse Coordinator
[email protected]
Phone: (215) 430-4074
Services Offered
Evaluation and treatment of FA children with upper limb and other orthopedic problems;
Surgical expertise in hand and upper limb differences;
Occupational therapy evaluation and treatment, including splints, adaptive equipment, and other needs.
Tokai University
Department of Cell Transplantation and Regenerative Medicine
Bohseidai, Isheara
Kanagawa, 259-1193 Japan
Hiromasa Yabe, MD, Stem Cell Transplantation
[email protected]
Phone: 81-463-93-1121 Fax: 81-463-91-6235
Miharu Yabe, MD, Stem Cell Transplantation
[email protected]
Phone: 81-463-93-1121 Fax: 81-463-91-6235
Shunichi Kato, MD, Stem Cell Transplantation
[email protected]
Phone: 81-463-93-1121 Fax: 81-463-91-6235
Services Offered
Evaluation of new and previously diagnosed patients;
14
Please note, when calling international numbers from within the US, dial 011, then the complete number.
Tokai University (cont’d)
Expertise in pediatric and adult stem cell transplantation from matched sibling donor or alternative
donor;
Special interest in new conditioning regimens for patients with FA to improve long-term quality of life;
Umbilical cord blood bank and cell processing center.
Universitat Autónoma de Barcelona
Department of Genetics and Microbiology
08193 Bellaterra (Cerdanyola del Valles)
Barcelona, Spain
Spanish Fanconi Anemia Network: www.redfanconi.net
Jordi Surrallés, PhD
[email protected]
Phone: 34-935-811-830, or 34-935-812-597 Fax: -34-935-812-387
Services Offered
DEB chromosomal breakage testing;
FA subtyping by retovirus mediated gene transfer, in collaboration with Dr. J.A. Bueren’s laboratory at
CIEMAT, Madrid;
Genetic counseling;
Maintenance of a database integrating genetic and clinical data;
Maintenance of a biobank of Spanish FA patients with cryopreserved transformed cell lines and DNA;
An FA registry with approximately 170 (Spanish) families.
Services for genetic analysis are offered free of charge to Spanish patients through the Spanish Fanconi
Anemia Network, which is funded by the Spanish Ministry of Health.
University of Minnesota
MMC 366, University of Minnesota
420 Delaware Street, S.E.
Minneapolis, MN 55455
John E. Wagner, MD, Fanconi Anemia Comprehensive Care Program Leader, Director, Division of
Hematology/Oncology and Blood and Marrow Transplantation, CCRF/Hageboeck Family Chair in
Pediatric Oncology & Clinical Director, Stem Cell Institute)
[email protected]
Phone: (612) 626-2961 Fax: (612) 626-4074
Margaret L. MacMillan, MD, Fanconi Anemia Comprehensive Care Program Leader, Assistant Professor,
Department of Pediatrics, Division of Blood and Marrow Transplantation
[email protected]
Phone: (612) 626-2778 Fax: (612) 626-2815
Anna Petryk, MD, Pediatric Endocrinology
[email protected]
Phone: (612) 624-5409 Fax: (612) 626-5262
15
Please note, when calling international numbers from within the US, dial 011, then the complete number.
University of Minnesota (cont’d)
Sarah Jane Schwarzenberg, MD, Pediatric Gastroenterology
[email protected]
Phone: (612) 624-1133 Fax: (612) 626-0639
K. Scott Baker, MD, MS, Stem Cell Transplantation/Late Effects Clinic
[email protected]
Phone: (612) 626-2961 Fax: (612) 626-1434
Frank Ondrey, MD, Otolaryngology
[email protected]
Phone: (612) 624-5900
Pat Fidler, RN, Nurse Coordinator
[email protected]
Phone: (612) 273-8480 Fax: (612) 273-2919
Heather Zierhut, MS, Genetic Counselor
[email protected]
Phone: (612) 626-6743 Fax: (612) 273-2919
Services Offered
Fanconi Anemia Comprehensive Care Program with specialists in bone marrow transplantation,
hematology, cancer (particularly head and neck), infectious disease, neurology, nephrology, care
partners (volunteer family support), social work, genetics, voice reconstruction (to treat androgen side
effects), orthopedic surgery, endocrinology (diabetes, short stature), gastroenterology, and radiation
therapy;
Consultation with new and previously diagnosed Fanconi anemia patients;
Expertise in unrelated marrow and umbilical cord transplantation and matched sibling donor
transplantation for Fanconi anemia with a 16-bed inpatient area and outpatient bone marrow
transplantation clinic;
Genetic counseling and coordination of complementation group analysis, mutation screening, somatic
mosaicism studies, and other genetic testing options including prenatal genetic testing and
preimplantation genetic diagnosis (PGD);
Umbilical cord blood bank and stem cell laboratory;
Ongoing research in stem cell biology, genetic correction of stem cells, mechanisms of bone marrow
failure, and novel treatments with collaborators around the country.
University of Pavia
Pediatric Haematology and Oncology Unit, Fondazione IRCCS Policlinico San Matteo, Pavia Italy
Piazzale Golgi, 2
27100, Pavia, Italy
Prof. Franco Locatelli, MD
[email protected]
Phone: 39-0382-502607 Fax: 39-0382-501251
Services Offered
Hematopoietic Stem Cell Transplantation from HLA-identical or disparate family donors and from
unrelated volunteers;
Stem cell laboratory;
Cell therapy laboratory;
16
Please note, when calling international numbers from within the US, dial 011, then the complete number.
University of Pavia (cont’d)
Stem cell bank;
Cytogenetic laboratory;
Molecular diagnosis of Fanconi anemia.
Vrije Universiteit Medical Center Amsterdam
Department of Clinical Genetics
Van der Boechorststraat 7
NL-1081 BT Amsterdam
The Netherlands
Hans Joenje, PhD
[email protected]
Phone: 31-20-444-8270 Fax: 31-20-444-8285
Johan P. de Winter, PhD
[email protected]
Phone: 31-20-444-8270 Fax: 31-20-444-8285
G. Pals, PhD
[email protected]
Phone: 31-20-444-8270 Fax: 31-20-444-8285
R. Vervenne, PhD
[email protected]
Phone: 31-20-444-8270 Fax: 31-20-444-8285
Services Offered
Diagnosis by chromosomal breakage analysis, including mosaicism;
Molecular diagnosis by mutation screening in all known FA genes;
Prenatal diagnosis;
Preimplantation genetic screening (in preparation);
Genetic counseling.
Research
Identification of the genes responsible for FA and “overlapping” conditions;
Understanding the FA pathway and how a defect in the pathway causes FA specific clinical symptoms;
Discovery of the FA pathway defect’s role on sporadic cancer.
Collaboration in The Netherlands
Dr. C.M. Zwaan, MD, PhD : Clinical Research Coordinator, Erasmus Medical Center, Rotterdam
Dr. M. Bierings, MD, PhD: Stem Cell Transplantation, Utrecht University Medical Center
Dr. E.T. Korthoff, MD, PhD: Stem Cell Transplantation, Leiden University Medical Center
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