International Fanconi Anemia Treatment and Testing Resource Guide

52 Pages·2015·0.64 MB·English

International Fanconi Anemia
Treatment and Testing
Resource Guide
2015
OUR MISSION
To find effective treatments and a cure for Fanconi anemia and to provide
education and support services to affected families worldwide.
1801 Willamette Street, Suite 200
Eugene, OR 97401
1-541-687-4658
Toll Free: 1-888-FANCONI (inside the U.S. only)
Fax: [phone]
www.fanconi.org
[email protected]
www.facebook.com/fanconianemiaresearchfund
https://twitter.com/FAresearchfund
Staff
Laura Hays, PhD, Executive Director [email protected]
Teresa Kennedy, MA, Director of Family Support Services [email protected]
Janae Peverill, Executive and Family Support Assistant [email protected]
Cynthia Freeman, Special Projects Coordinator [email protected]
Table of Contents
U.S. FA Treatment Resources
Bone Marrow Failure ................................................................................................................................... 1
Bone Marrow Donor Registries ..................................................................................................................11
Cord Blood Registries .................................................................................................................................11
Dermatology ...............................................................................................................................................12
Endocrinology .............................................................................................................................................12
Gastroenterology .........................................................................................................................................13
Genetic Counseling .....................................................................................................................................13
Gynecology .................................................................................................................................................14
Hand Surgeons ............................................................................................................................................14
Ophthalmology ...........................................................................................................................................15
Otolaryngology (Ear, Nose, Throat) and Head & Neck Cancer .................................................................16
Pre-Implantation Genetic Diagnosis (PGD) ................................................................................................18
Radiation Oncology ....................................................................................................................................18
U.S. FA Testing Resources ........................................................................................................................19
International FA Treatment Resources
Australia ......................................................................................................................................................23
Austria .........................................................................................................................................................24
Brazil...........................................................................................................................................................24
Canada ........................................................................................................................................................25
China ...........................................................................................................................................................25
Colombia .....................................................................................................................................................25
Czech Republic ...........................................................................................................................................26
Denmark .....................................................................................................................................................26
France .........................................................................................................................................................26
Germany .....................................................................................................................................................27
India ............................................................................................................................................................28
Iran ..............................................................................................................................................................28
Israel ...........................................................................................................................................................28
Italy .............................................................................................................................................................29
Japan ...........................................................................................................................................................30
Kenya ..........................................................................................................................................................30
Lebanon ......................................................................................................................................................31
Mexico ........................................................................................................................................................31
Netherlands .................................................................................................................................................32
New Zealand ...............................................................................................................................................33
Republic of Korea .......................................................................................................................................33
Saudi Arabia ...............................................................................................................................................33
Singapore ....................................................................................................................................................33
South Africa ................................................................................................................................................34
Spain ...........................................................................................................................................................34
Turkey .........................................................................................................................................................36
United Kingdom .........................................................................................................................................36
International FA Testing Resources ....................................................................................................39
Index of Institutions and Clinicians .....................................................................................................43

U.S. Fanconi Anemia Treatment Resource Guide
Editors’ note and disclaimer: The resource list provided in this guide is not comprehensive. Inclusion on the list does not imply
endorsement by the Fanconi Anemia Research Fund, Inc. Families are encouraged to ask clinicians about their experience treating
patients with Fanconi anemia.
BONE MARROW FAILURE
Children’s Hospital Central California Children’s Hospital Los Angeles, Keck School of
Department of Pediatric Hematology SC-62 Medicine, University of Southern California
9300 Valley Children’s Place
4650 Sunset Boulevard, MS #62
Madera, CA 93636 -8762
Los Angeles, CA 90027
Telephone: [phone] Fax: [phone]
Email: [email protected] • Neena Kapoor, MD, Division of Research Immunology &
Bone Marrow Transplant
• Laura Andrews, RN, Transplant Coordinator
Telephone: [phone] Fax: [phone]
• Vinod Balasa, MD, Director of Hematology/Oncology Email: [email protected]
• Kelly Folmer, RN, CPNP
• Terea Giannetta, DNP, CPNP, Nurse Practitioner Children’s Hospital of Wisconsin
• Catherine Hanson, LCSW
MACC Fund Research Center, Suite 3018
• Nancy G. Hatcher, MSW, Clinical Social Worker
8701 Watertown Plank Road
• Mary Beth Jones, Child Life Coordinator
Milwaukee, WI 53226
• William Koole, Pharm.D
• Shari Langer, PhD, Clinical Psychologist Monica Thakar, MD
• J. Daniel Ozeran, MD, PhD
Telephone: [phone] Fax: [phone]
• Latha Rao, MD
Email: [email protected]
• Faisal Razzaqi, MD
• Ruth Rolen-Martinez, RN, BSN, Clinical Coordinator Services Offered:
• Wendy Tcheng, MD  Evaluation of new and previously diagnosed patients;
• Ruetima Titaphiwatanakun, MD  Personalized treatment regimens and coordination of care by
• Pamela Young, RD specialists in hematology, bone marrow transplantation,
cardiology, endocrinology, genetics, gastroenterology,
Services Offered:
nephrology, urology, orthopedics, social work;
Children’s Hospital Central California provides diagnostic,  Stem cell collection, storage, and infusion;
treatment and referral services to children ages birth to 21 years  Expertise in matched sibling donor, unrelated donor, and
in California’s Central Valley, at the only pediatric hospital
haploidentical (alternative donor) transplantation for Fanconi
between Los Angeles and San Francisco and the largest anemia;
children’s hospital between San Diego and San Francisco.  Collaborations with Fred Hutchinson Cancer Research Center
Patients are seen and treated from initial diagnosis to and and Memorial Sloan-Kettering Cancer Center in alternative
beyond bone marrow transplant for which patients are referred donor clinical trials.
to nationally recognized transplant centers. Patients receive
specialty care within the Fanconi anemia treatment program as
well as from Genetics, Orthopaedics, Cardiology, Behavioral
Health Sciences and other specialty services. Patients with
Fanconi anemia are provided supportive, educational, and
consultive services to further enhance care.

Note: FANCD2 immunoblot=FANCD2 western=FANCD2 ubiquitination.
1
BONE MARROW FAILURE
• Sarah Lawson, MD, Assistant Professor, Endocrine
Cincinnati Children’s Hospital Medical Center Telephone: [phone]
Fanconi Anemia Comprehensive Care Center Email: [email protected]
MLC 11013
• Nancy Doan Leslie, MD, Director, Biochemical Genetics
3333 Burnet Avenue
Laboratory
Cincinnati, OH 45229
Director, ABMG-Accredited Clinical Training Program
www.cincinnatichildrens.org
Professor, UC Department of Pediatrics
• Erica L. Goodridge, RN, BSN, CPN, Care Manager, Telephone: [phone] Fax: [phone]
Fanconi Anemia Comprehensive Care Center Email: [email protected]
Telephone: [phone] Fax: [phone]
• Charles T. Mehlman, MD, Director, Musculoskeletal
Email: [email protected]
Outcomes Research
• Stella Davies, MBBS, PhD, MRCP, Director, Co-Director, Brachial Plexus Center
Bone Marrow Transplantation and Immune Deficiency Professor, Division of Pediatric Surgery
Jacob G. Schmidlapp Endowed Chair Telephone: [phone] Fax: [phone]
Professor, UC Department of Pediatrics Email: [email protected]
Telephone: [phone] Fax: [phone]
• Parinda Mehta, MD, Associate Professor,
Email: [email protected]
UC Department of Pediatrics
• Richard Harris, MD, Professor of Clinical Pediatrics Telephone: [phone] Fax: [phone]
University of Cincinnati College of Medicine Email: [email protected]
Division of Blood and Marrow Transplantation and
• Eugene Minevich, MD, FACS, FAAP, Director,
Immune Deficiency
Stone Program
Cancer and Blood Diseases Institute
Professor, UC Department of Pediatrics
Telephone: [phone] Fax: [phone]
Telephone: [phone]
Email: [email protected]
Email: [email protected]
• Lesley Breech, MD, Division Director, Pediatric and
• Kasiani Myers, MD, Assistant Professor,
Adolescent Gynecology
U.S. Department of Pediatrics
Associate Professor, UC Department of Surgery
Telephone: [phone]
University of Cincinnati Department of Obstetrics and
Email: [email protected]
Gynecology
Telephone: [phone] Fax: [phone] • Susan R. Rose, MD, MEd, Professor,
Email: [email protected] UC Department of Pediatrics, Endocrine
Telephone: [phone]
• Roger Cornwall, MD, Associate Professor of Pediatrics,
Email: [email protected]
Division of Orthopaedics (Hand Surgery)
Telephone: 513-803-HAND Fax: [phone] • Michael Rutter, MD, Pediatric Otolaryngologist and
Email: [email protected] Director of Clinical Research
Professor, UC Department of Pediatrics
• Jens Goebel, MD, Professor, Nephrology
Otolaryngology - Head and Neck Surgery
Telephone: [phone]
Telephone: [phone] Fax: [phone]
Email: [email protected]
Email: [email protected]
• Sara C. Knapke, MD, Clinical Manager and Certified
• Thomas Ryan, MD, Assistant Professor, Cardiology
Genetic Counselor
Telephone: [phone]
Telephone: [phone]
Email: [email protected]
Email: [email protected]
• Mary Sutton, MD, Assistant Professor,
• Samuel Kocoshis, MD, Professor
UC Department of Pediatrics
Telephone: [phone]
Telephone: [phone]
Email: [email protected]
2
BONE MARROW FAILURE
• Robert E. Wood, MD, PhD, Director, Pulmonary • Lisa Gutierrez, RN, MSN, CPNP, CPHON, Nurse
Bronchoscopy Department Practitioner, Pediatrics
Professor, UC Department of Pediatrics Email: [email protected]
Telephone: [phone] Fax: [phone]
Email: [email protected] • Nadia Ewing, MD, Director, Pediatric Hematology
Email: [email protected]
Services Offered:
• Lisa Pullens, RN, BSN, Nurse Coordinator, Pediatric
 Evaluation of new and previously diagnosed patients;
Hematology
 Personalized treatment regimens by specialists in bone
Email: [email protected]
marrow transplantation, cardiology, endocrinology,
genetics, hematology, nephrology, urology, orthopedics,
• Joyce Collins, PhD, Director, Cytogenetics
hand surgery, social work, and family support network;
Email: [email protected]
 Pharmacological and other clinical trials (e.g., cytokines
and flavonoids); • Christina Cabanillas, LCSW, Social Worker, Pediatric
 Fanconi anemia repository for samples and data; Hematology/Hematopoietic Cell Transplantation
 Expertise in matched sibling donor and unrelated donor Email: [email protected]
transplantation for Fanconi anemia;
 Fanconi anemia complementation and mutation analysis; • Renee Ortiz, LCSW, Social Worker, Pediatric
 Stem cell collection, storage, and reinfusion; Hematology/Hematopoietic Cell Transplantation
 Collaboration with, International Fanconi Anemia Email: [email protected]
Registry (Arleen Auerbach, PhD).
• April Sorrell, MD, Pediatric Hematology/Hematopoietic
Cell Transplantation and Pediatric Clinical Cancer
City Of Hope
Genetics
1500 E. Duarte Road • Smita Bhatia, MD, Pediatrics,
Duarte, CA 91010 Hematology/Hematopoietic Cell Transplantation and
Telephone: [phone] Director, Population Sciences
• Joseph Rosenthal, MD, Chair, Department of Pediatrics, Services Offered:
Pediatric Hematology/Hematopoietic Cell  Diagnostic testing and screenings of siblings;
Transplantation  Complete evaluation, treatment and follow-up of new and
Email: [email protected]
previously diagnosed FA patients;
 Information and assistance for physicians in the care of
• Anna Pawlowska, MD, Director, Pediatric
their FA patients;
Hematology/Hematopoietic Cell Transplantation
 Cancer screening and specialist consultations;
Email: [email protected]
 Hematopoietic stem cell transplantation from siblings,
• Nicole Karras, MD, Staff Physician, Pediatric matched unrelated donors and umbilical cord blood units;
Hematology/Hematopoietic Cell Transplantation  Long-term, Fanconi anemia-focused, post-transplant
Email: [email protected] follow-up.
• Saro Armenian, MD, MPH, Associate Professor, Cohen Children’s Medical Center of New
Pediatric Hematology/Oncology and Population Sciences,
York, Bone Marrow Failure Program
Division of Outcomes Research
Division of Hematology/Oncology and Stem Cell
Email: [email protected]
Transplantation
• Julie Wolfson, MD, Staff Physician, Pediatrics; Assistant 269-01 76th Avenue, Rm. 255
Professor, Population Sciences & Pediatrics New Hyde Park, NY 11040
Email: [email protected]
• Adrianna Vlachos, MD, Assistant Professor of
• Debbie Hitt, RN, BSN, CPHON, Nurse-Coordinator, Pediatrics
Pediatric Hematology/Hematopoietic Cell Head, Bone Marrow Failure Program and Associate
Transplantation Head, Stem Cell Transplant Program
Email: [email protected] Telephone: [phone] Fax: [phone]
Email: [email protected]
3
BONE MARROW FAILURE
• Johnson M. Liu, MD, Les Nelkin Professor of Pediatrics Boston Children’s Hospital
Head, Section of Experimental Hematology and Les 300 Longwood Avenue
Nelkin Memorial Pediatric Oncology Research Boston, MA 02115
Laboratory http://www.childrenshospital.org/fa-bmf
Telephone: [phone]
Email: [email protected] • David A. Williams, MD
Telephone: [phone]
• Jeffrey M. Lipton, MD, PhD, Professor of Pediatrics Email: [email protected]
Chief, Division of Hematology/Oncology and Stem Cell
Transplantation • Colin Sieff, MB BCh
Telephone: [phone] Telephone: [phone]
Email: [email protected] Email: [email protected]
• Nancy Barbach, LCSW, Social Worker, Hematology • Mary Cogan, CPNP, RN, CPHON
Oncology and Stem Cell Transplantation Telephone: [phone] Fax: [phone]
Telephone: [phone] Email: [email protected]
Email: [email protected]
Dana-Farber Cancer Institute
Services Offered: 450 Brookline Avenue
 Bone Marrow Failure Clinic offering comprehensive Boston, MA 02215
evaluation of adult and pediatric FA patients by an http://research.dfci.harvard.edu/dandrealab
experienced team of multi-disciplinary specialists directed
• Alan D’Andrea, MD
by medical and pediatric hematologists;
Telephone: [phone]
 Hematopoietic Stem Cell Transplant Program offering
Email: [email protected]
expertise in transplantation in bone marrow failure
syndromes; • Lisa A. Moreau, MS, CLSpCG
 Experimental Hematology Program studying molecular Telephone: [phone]
mechanisms of hematopoietic failure and oncogenesis in
Email: [email protected]
FA and other bone marrow failure syndromes.
Specialists:
Fanconi Anemia and Bone Marrow Failure Adolescent Medicine/Gynecology: Amy DiVasta, MD
Multi-disciplinary Clinic at the Dana- Blood and Marrow (Stem Cell) Transplantation: Leslie
Lehmann, MD
Farber/Boston Children’s Cancer and Blood
Cardiology: David Harrild, MD, PhD
Disorders Center
Endocrinology: Laurie Cohen, MD
Dana-Farber Cancer Institute Gastroenterology: Leonel A. Rodriguez, MD, MS
450 Brookline Avenue Genetics: Jonathan Picker, MD, PhD; Pam Hawley, MS,
Boston, MA 02215 CGC
Hand Surgery: Brian Labow, MD
• Eva C. Guinan, MD, Associate Professor of Radiation Hematology: David A. Williams, MD; Colin Sieff, MB
Oncology BCh; Mary Cogan, CPNP, RN, CPHON
Director, Translational Research BWH/DFCI Department Molecular Diagnostics: Alan D’Andrea, MD; Lisa
of Radiation Oncology Moreau, MS, CLSpCG; Bai-Lin Wu, PhD, M Med
Telephone: [phone] Fax: [phone] FACMG, Ann E. Reinhard, MS, CGC
Email: [email protected] Nephrology: Michael Ferguson, MD
Otolaryngology: Reza Rahbar, DMD, MD, FACS
• Lisa L. Brennan, BSN, RN, Research Nurse
Pulmonary Medicine/Aero-Digestive Disorders: Catherine
Email: [email protected]
Sheils, MD
Social Work: Susanna Locke, LCSW
Services Offered:
Urology: Hiep (Bob) Nguyen, MD
 Comprehensive evaluation;
 Second opinions;
Services Offered:
 Pre- and post-transplantation evaluation;
 Our Nurse Practitioner arranges a comprehensive
 Follow-up care and planning.
4
BONE MARROW FAILURE
evaluation for each new patient, including confirmation of • Hans-Peter Kiem, MD, Member, Fred Hutchinson
diagnosis, genetic typing, HLA typing, and a multi-system Cancer Research Center
evaluation. The team carefully examines previous Investigator, Markey Molecular Medicine Center
diagnostic test results and past medical history to guide the Adjunct Associate Professor of Pathology
initial evaluation in the multi-disciplinary clinic. This Associate Professor of Medicine, University of
results in a written summary and recommendations for the Washington School of Medicine
referring physician and the patient’s family. Ongoing care Telephone: [phone] Fax: [phone]
may continue at Children’s or in partnership with the Email: hkiem@ fredhutch.org
referring physician. Psychosocial support is available and
• K. Scott Baker, MD, MS, Member and Director,
an important part of our long-term care of families of
Pediatric Blood and Marrow Transplantation and
patients with serious diseases.
 A variety of innovative clinical trials are available for Survivorship Programs, Fred Hutchinson Cancer
Research Center and Seattle Children’s Hospital
enrollment. Two current studies for patients with Fanconi
Professor of Pediatrics, University of Washington School
anemia are: 1) the use of danazol, an androgen and 2) a
of Medicine
hematopoietic stem cell transplantation trial for those
Telephone: [phone] Fax: [phone]
lacking a genotypically identical donor.
 Diagnosis of new FA patients through Clinical Laboratory Email: ksbaker@ fredhutch.org
Improvement Act (CLIA)-certified diepoxybutane (DEB)
• Ann Woolfrey, MD, Director, Unrelated Donor Program
test.
Member, Fred Hutchinson Cancer Research Center,
 Facilitation of DNA mutation identification via
Pediatric Blood and Marrow Transplant Program
CAP/CLIA-certified DNA sequencing in the Laboratory
Professor of Pediatrics, University of Washington School
Medicine Department at Boston Children’s Hospital
of Medicine
coordinated with Dr. Bai-Lin Wu and Ann Reinhard.
Telephone: [phone] Fax: [phone]
Current available testing for FANCA, FANCC, and
Email: awoolfre@ fredhutch.org
FANCG are listed at www.genetests.org. Genetic
Counselor: Ann E. Reinhard, MS, CGC, phone: • Jennifer Adair, PhD, Clinical Research Associate
617-355-4907, [email protected]. Fred Hutchinson Cancer Research Center
 Complementation analysis via retrovirus gene transfer. Telephone: [phone] Fax: [phone]
 Fundamental research in DNA repair pathways, induced Email: jadair@ fredhutch.org
pluripotent stem cells and gene therapy.
 Referral for pre-implantation genetic diagnosis services at • Pam Becker, MD, PhD, Associate Professor of
two sites in Boston if we find disease-causing mutations. Medicine, University of Washington School of Medicine,
Department of Hematology
Fred Hutchinson Cancer Research Center Telephone: [phone] Fax: [phone]
1100 Fairview Ave N
Services Offered:
Seattle, WA 98101
 Comprehensive Fanconi Anemia Program including
Telephone: [phone]
evaluation and management of new and previously
www.fhcrc.org
diagnosed pediatric and adult patients with FA;
 Personalized treatment regimens by specialists in
Seattle Children’s Hospital
hematology, bone marrow transplantation, cardiology,
4800 Sand Point Way NE endocrinology, genetics, gastroenterology, nephrology,
Seattle, WA 98105 urology, orthopedics, and social work;
www.seattlechildrens.org  Gene therapy trial; Fanconi anemia repository for samples
and data;
• Akiko Shimamura, MD, PhD, Director, Compregensive  Stem cell collection, storage, and reinfusion;
Marrow Failure/MDS Program, Pediatric Hematology-
 Expertise in matched sibling donor, unrelated donor, and
Oncology, Seattle Children’s Hospital
haploidentical (alternative donor) transplantation for
Member, Fred Hutchinson Cancer Research Center
Fanconi anemia;
Professor of Pediatrics, University of Washington School  Collaboration with Hospital de Clinicas, University of
of Medicine
Parana, Brazil (Carmem Bonfim, MD and Ricardo
Telephone: [phone] Fax: [phone]
Pasquini, MD, PhD).
Email: [email protected]
5
BONE MARROW FAILURE
Hackensack University Medical Center  Mutation screening of probands (gene specific sequencing,
next generation sequencing, whole exome sequencing,
Tomorrow’s Children Institute
SNP analysis, and/or CHG) for genes under investigation
30 Prospect Avenue by the laboratory;
Hackensack, NJ 07601  Genomic analysis of tumor tissue from enrolled
www.HackensackUMC.org participants: surgical samples needed;
 Derivation of lymphoblastoid cell line for
• Alfred P. Gillio, MD, Director, Blood and Marrow
complementation testing; maintenance of Fanconi anemia
Transplantation Program
cell and DNA repositories;
Joseph M. Sanzari Children's Hospital
 Genetic counseling for individuals involved in the IFAR,
Institute of Pediatric Cancer & Blood Disorders at
and their family members.
Hackensack University Medical Center
Telephone: [phone] Fax: [phone] Testing Services on Research Protocol:
Email: [email protected]  Mutation analysis (research)
 FANCD2 western blot (research)
• Barbara Adler-Brecher, MS
Email: [email protected] Co-Principal Investigators for the IFAR:
• Farid Boulad, MD, Memorial Sloan-Kettering Cancer
Services Offered:
Center, New York, NY
 Diagnosis and genetic counseling;
Telephone: [phone] Fax: [phone]
 Comprehensive medical treatment including gynecology
Email: [email protected]
and ENT specialists;
 Matched sibling and unrelated donor transplants. • Stella Davies, MBBS, PhD, MRCP, Cincinnati
Children’s Hospital Medical Center
International Fanconi Anemia Registry (IFAR)
Cincinnati, OH
The Rockefeller University Telephone: [phone] Fax: [phone]
Email: [email protected]
Part of New York Consortium for Inborn Errors of
Hematopoiesis and Immunity (see also, Memorial Sloan • Margaret L. MacMillan, MD, University of Minnesota,
Kettering Cancer Center, New York Presbyterian Minneapolis, MN
Hospital, and Hospital for Special Surgery) Telephone: [phone] Fax: [phone]
Laboratory of Genome Maintenance Email: [email protected]
1230 York Avenue, Box 182
• David I. Kutler, MD, Head and Neck Surgeon, Weill
New York, NY 10065
Cornell Medical Center/New York Presbyterian Hospital,
http://lab.rockefeller.edu/smogorzewska/ifar/
New York, NY
Facebook: Fanconi Anemia Registry or Agata
Telephone: [phone]
Smogorzewska
Email: [email protected]
• Agata Smogorzewska, MD, PhD, Principal Investigator
Telephone: [phone], or 8862 Fax: [phone] Memorial Sloan-Kettering Cancer Center
Email: [email protected]
Part of New York Consortium for Inborn Errors of
http://lab.rockefeller.edu/smogorzewska
Hematopoiesis and Immunity (see also, Rockefeller
• Arleen D. Auerbach, PhD, Co-Investigator University, New York Presbyterian Hospital, and
Telephone: [phone], or 8862 Fax: [phone] Hospital for Special Surgery)
Email: [email protected] 1275 York Avenue
New York, NY 10065
• Jennifer Kennedy, MS, CGC, Genetic Counselor/Study Email: www.mskcc.org
Coordinator
Telephone: [phone], or 8862 Fax: [phone] • Farid Boulad, MD, Medical Director, Pediatric Day
Email: [email protected] Hospital
Attending Physician
Genetic Services on Research Protocol: Bone Marrow Transplant Service
 International Fanconi Anemia Registry (IFAR); Department of Pediatrics
6