Hereditary Dysautonomias: Current Knowledge and Collaborations for the Future

National Institute of Neurological Disorders and Stroke
Hereditary Dysautonomias: Current Knowledge and Collaborations for the Future
Meeting Report
October 3-4, 2002

Written by Math Cuajungco PhD, for the National Institute of Neurological Disorders and Stroke and Office of Rare Diseases

• Introduction
  
• Agenda
  
• Participant List
  

Introduction

The hereditary dysautonomias are a large group of disorders that affect the autonomic nervous system. Taken together, inherited forms of dysautonomia are actually quite common in the population. Recently, medical scientists, NIH/NINDS representatives, and several patient support groups gathered for a workshop in order to discuss recent findings and future directions in the field. This was the first workshop on this subject, and it was instrumental in promoting interactions between basic and clinical investigators. Further, it allowed attendees to have an opportunity to meet each other, understand the similarities between the various forms of dysautonomia, and experience the unique perspective offered by patients and their families.

The subject of the first session of the workshop was familial dysautonomia (FD), the first of the hereditary dysautonomias to be well described and extensively studied. FD involves dysfunction of both the autonomic and sensory nervous systems. The neuropathological and clinical aspects of the disease, as well as a historical overview, were presented by Dr. Felicia Axelrod. She was followed by Dr. Susan Slaugenhaupt who spoke on the genetics of FD. She gave a brief chronological review of the search, and ultimate discovery, of the splicing mutation in IKBKAP that causes FD. Various clinical assessments that sensitively identify abnormal baroreflex and chemoreflex responses of the autonomic nervous system were then presented by Dr. Max Hilz, and it was shown that these standardized tests are by far the best means to further understand pathological correlates of the central and peripheral autonomic nervous system. On a similar note, Dr. William Kennedy showed that biopsies from FD patients may be a potential means of clinically measuring neuropathological alterations in neurotransmitter expression, nerve degeneration, and loss of associated tissue structures. Observations from these biopsied samples indicated that the disappearance of specific histochemical stains over time was a good indicator of disease progression. The functional significance of IKAP, the protein encoded by IKBKAP, and its role in FD pathology was discussed by Dr. Jesper Svejstrup. Recent studies in his laboratory suggest that IKAP may be involved in transcription elongation. Next, Dr. Yang Xu gave a brief overview outlining the construction of a mouse model for FD. As part of promoting research on FD, the head of the medical advisory board of the Dysautonomia Foundation, Dr. Gail Sonenshein, gave a short talk on current research endeavors currently funded by the Foundation. The session ended with a lively dialogue between presenters and attendees, with Dr. Berish Rubin serving as moderator.

The second session provided an expanded perspective on various forms of dysautonomia and dysautonomia-associated genetic polymorphisms. Dr. David Goldstein gave an introduction to the autonomic subdivisions, their functions, and the corresponding neurotransmitters utilized by these systems. He then went on to discuss dysautonomia in the context of central nervous system (CNS) disorders like familial Parkinson's disease (PD) or multiple system atrophy. Recent data suggests that, at least in familial PD, sympathetic denervation is characteristic of the disease. Dr. Sonia Peltzer provided the audience insight into what it feels like to be a parent of children suffering from familial dysautonomia (FD). Patient advocacy and the need for translational research were the main points of Dr. Peltzer's talk. Meanwhile, in keeping with the diverse theme of the session, an inherited genetic defect that causes familial amyloidotic polyneuropathy (FAP) was presented by Dr. Yukio Ando. FAP results from mutations or deletions in the transthyretin gene. The pathologic form of transthyretin protein deposits as amyloid plaques in systemic organs, dorsal root and sympathetic ganglia, as well as peripheral nerves. Dr. Ando presented current knowledge on the clinical manifestations, assessments, and treatments of FAP. Dr. Maureen Hahn then discussed the genetic defect responsible for NET deficiency, a common cause of Dysautonomia. Dr. Hahn touched on the historical aspect of the discovery of the NET gene mutation, and discussed the clinical manifestations of the disorder. There is much work currently being done in vitro to dissect the pathology caused by NET deficiency. Following this presentation, a different, but very interesting human genetic study on adrenergic receptor polymorphisms was given by Dr. Stephen Ligget. The adrenoreceptors are distinct class of receptors in the sympathetic branch of the ANS. Dr. Ligget and his colleagues identified several polymorphisms in the alpha and beta adrenoreceptor subclasses that result in specific phenotypes in vitro. Dr. Ligget concluded the talk by suggesting that several polymorphisms in the adrenergic receptors may play role as disease modifiers in some commonly observed dysautonomic syndromes, and possibly cardiac dysfunction. The final presentation of the day began with an introduction to baroreceptors, which are afferent receptors that regulate blood pressure. Dr. Italo Biaggioni described various clinical cases that exhibit complete absence of baroreceptor modulation, and linked these symptoms with other disorders like FD and multiple system atrophy. Dr. Biaggioni concluded that studying patients with autonomic failure provides a unique model of both sympathetically dependent and independent hypertension. A question and answer forum headed by Dr. Goldstein ended the session.

The third and final session focused on the intricate genetics of catecholamine metabolism. Several speakers presented discussions of the clinical symptoms resulting from baroreflex abnormalities and genetic factors that influence blood pressure regulation. Dr. David Robertson described a female patient who presented with postural orthostatic tachycardia (POTS). POTS is believed to be related to abnormalities in the interplay between the cardiovascular system and the ANS. Sufferers experience a number of symptoms such as lightheadedness, palpitations, and tremulousness during standing. Indeed, Dr. Robertson's patient was found to be suffering from dopamine-beta hydroxylase deficiency, and that elevation of dopamine was central to the clinical presentation. Next, Ms. Linda Smith gave the audience a patient's perspective on living with a form of dysautonomia. Ms. Smith suffers from NET deficiency, and is the founder and current executive director of the National Dysautonomia Research Foundation (NDRF). Ms. Smith outlined the role of NDRF in advocating awareness, patient-doctor education and governmental support. The remaining speakers continued the discussions on baroreflex control and genetic influences in baroreceptor function. Dr. Giris Jacob talked about the epidemiology and pathology involved in blood pressure regulation. Dr. Jacob presented a case of neuropathic postural tachycardia syndrome (NPTS), and concluded that NPTS patients are clearly dysautonomic. Similarly, Dr. Jens Jordan briefly outlined some clinical data, but focused mainly on current findings which indicate that genetic risk factors are seen in patients with dysautonomia. Finally, Dr. Daniel O'Connor discussed the effects of catestatin and related protein on neurotransmitter modulation. Dr. O'Connor showed that catestatin is capable of inhibiting catecholamine activity in the ANS, and their current work is aimed at elucidating genes that modify dysautonomia phenotypes. Dr. Allan Guttmacher presided over the panel discussion, which was followed by the session summary headed by Dr. Katrina Gwinn-Hardy.

The first workshop on dysautonomia successfully concluded with all attendees agreeing on several issues: (i) that it is imperative to expand clinical and basic research and put emphasis on translational research; (ii) to endorse patient advocacy and improve awareness and education; (iii) to develop resources that will aid research and treatment strategies, and possibly establish collaborative broad scale efforts in the form of multi-project applications and grants and multi-site efforts; (iv) to encourage collaborative efforts and enhance data sharing and management; (v) and to hold regular, follow-up scientific meetings.

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Agenda

Hereditary Dysautonomias
Current Knowledge and Collaborations for the Future

National Institute of Neurological Disorders and Stroke, NIH
Office of Rare Diseases, NIH

October 3 and 4, 2002
Doubletree Hotel, Rockville, Maryland, USA

Thursday, October 3

8:30 a.m.
Announcements
Katrina Gwinn-Hardy M.D., NINDS National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD

Welcome
Audrey Penn, M.D., Acting Director, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD

Stephen Groft, Pharm. D., Director, Office of Rare Diseases, NIH, Bethesda, MD

Session 1: Familial Dysautonomia-Genetics and other Factors

Chairperson Felicia B. Axelrod, M.D.

8:45 a.m.
Introduction
Familial Dysautonomia: Historical, Neuropathological, and Clinical Overview Felicia B. Axelrod, M.D., New York University School of Medicine, New York, NY

9:10 a.m.
Genetics of Familial Dysautonomia - Tissue Specific Expression of the IKBKAP Gene Mutations
Susan Slaugenhaupt, Ph.D., Harvard Medical School, Cambridge, MA

9:30 a.m.
Autonomic and Sensory Assessment and Evaluation of Familial Dysautonomia with Standardized Tests.
Max J. Hilz, M.D., Ph.D., New York University School of Medicine, and University Erlangen-Nuremberg, Germany

9:50 a.m. Break

10:10 a.m.
Future Directions for Familial Dysautonomia
Gail Sonenshein, Ph.D. (Chair, Dysautonomia Foundation Scientific Advisory Board) Boston University School of Medicine, Boston, MA

10:30 a.m.
What Is IKAP and Speculations on its Role in the Development, Maintenance and Survival of Autonomic and Sensory Neurons
Jesper Q. Svejstrup, Ph.D., Clare Hall Laboratories, UK

10:50 a.m.
Secondary Neurotransmitter Aberrations as Demonstrated by Immunoreactive Stains in Dermal Neurons
William R. Kennedy, M.D., University of Minnesota, Minneapolis, MN

11:10 a.m.
Construction of a Mouse Model to Study Mechanisms of Pathogenesis in Familial Dysautonomia
Yang Xu, Ph.D., Division of Biology, University of California, San Diego, CA

11:30 a.m.
Open Discussion and Q & A
Moderator: Berish Rubin, PhD, Fordham University, Bronx, NY (All Participate)

12:00-1:15 p.m. Break

Session 2: Inherited Dysautonomias: Familial Dysautonomia and Beyond

Chairperson David S. Goldstein, M.D., Ph.D.

1:15 p.m.
Dysautonomia in Familial Parkinson's Disease
David S. Goldstein, M.D., Ph.D., National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD

1:40 p.m.
Setting Priorities for Basic, Disease-Oriented, and Patient-Oriented Research about Inherited Dysautonomias: A Patient Advocacy Perspective
Sonia Peltzer, M.D., President, Familial Dysautonomia Hope, Newton, NC

2:00 p.m.
Familial Amyloidotic Polyneuropathy
Yukio Ando, M.D., Ph.D., Kumamoto University School of Medicine, Kumamoto, Japan

2:20 p.m.
NET Deficiency: Perspective of a Molecular Researcher
Maureen Hahn, Ph.D. Center for Molecular Neuroscience, Vanderbilt University, Nashville, TN

2:40 p.m.
Adrenoreceptor Polymorphisms Affecting Autonomic Regulation
Stephen Liggett, M.D., University of Cincinnati, Cincinnati OH

3:00 a.m. Break

3:20 p.m.
Hypertension in Autonomic Disorders: Genetic factors and Phenotyping
Italo Biaggioni, M.D., Vanderbilt University, Nashville TN

3:40 p.m.
Open Discussion and Q & A Moderator: David Goldstein, M.D., Ph.D. National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD (All Participate)

4:15 p.m. Adjourn

Friday, October 4

Session 3: Lessons from Other Dysautonomias: An Overview

Chairperson David Robertson, M.D.

8:30 a.m.
Genetic Disorders of Catecholamine Metabolism
David Robertson, M.D., Vanderbilt University, Nashville TN

8:55 a.m.
NET Deficiency: Perspective of a Patient
Linda J. Smith, Executive Director/Founder, National Dysautonomia Research Foundation, Redwing, MN

9:15 a.m.
Neuropathic Postural Tachycardia Syndrome
Giris Jacob, M.D., D.Sc., Rambam Medical Center, Haifa, Israel

9:35 a.m.
Genetic Factors in Blood Pressure Regulation
Jens Jordan, M.D., Clinical Research Center, Franz Volhard Klinik, Berlin, Germany

9:55am Break

10:15 a.m.
Genetic Determinants of Autonomic Blood Pressure Control
Daniel O'Connor, M.D., University of California, San Diego, San Diego CA

10:35 a.m.
Open Discussion and Q & A
Moderator: David Robertson M.D. Vanderbilt University School of Medicine, Nashville TN (All Participate)

11:10 a.m.
Summary of Sessions and Directions for the Future
Moderator: Alan Guttmacher, Ph.D., Deputy Director, National Human Genome Research Institute, NIH, Bethesda, MD (All Participate)

12:00 p.m. Adjourn

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Participant List

Sylvia L. Anderson, Ph.D.
Laboratory Director
Laboratory for Familial Dysautonomia Research
Biological Sciences Department
Fordham University
Larkin Hall, Room 160
441 East Fordham Road
Bronx, NY 10458
Tel: 718-817-3650
Fax: 718-817-3645
E-mail: sanderson@fordham.edu

Yukio Ando, M.D., Ph.D.
Associate Professor
Department of Laboratory Medicine
Kumamoto University School of Medicine
1-1-1 Honjo
Kumamoto 860-0811
Japan
Tel: 81 96 373 5686
Fax: 81 96 373 5686
E-mail: yukio@kaiju.medic.kumamoto-u.ac.jp

Yair Anikster, M.D.
Head
Metabolic Disease Unit
Department of Pediatrics
The Chaim Sheba Medical Center
Tel Hashomer 52621
Israel
Phone: 972 3 530 2445
Fax: 972 3 635 5178
E-mail: yair.anikster@sheba.health.gov.il

Connie Atwell, Ph.D.
Director
Division of Extramural Research
National Institute of Neurological Disorders and Stroke
National Institutes of Health
6001 Executive Boulevard, Suite 3309
Bethesda, MD 20892-9527
Phone: 301-496-9248
Fax: 301-402-4370
E-mail: atwellc@ninds.nih.gov

Arie Augarten, M.D.
Pediatric Emergency Department
Sheba Medical Center
Ramat Gan 52621
Israel
Phone: 972 58347300
Fax: 972 35302945
E-mail: augarten@post.tau.ac.il

Italo Biaggioni, M.D.
Professor
Departments of Medicine and Pharmacology
Vanderbilt University Medical Center
1500 21st Avenue South, Suite 3500
Nashville, TN 37215
Phone: 615-343-8010
Fax: 615-343-7929
E-mail: italo.biaggioni@vanderbilt.edu

Alyson Brenner
Parent
Dysautonomia Foundation, Inc.
633 Third Avenue, 12th Floor
New York, NY 10017
Phone: 212-949-6644
Fax: 212-682-7625
E-mail: dys212@aol.com

David Brenner
Vice President
Dysautonomia Foundation, Inc.
633 Third Avenue, 12th Floor
New York, NY 10017
Phone: 212-949-6644
Fax: 212-682-7625
E-mail: dys212@aol.com

Michael J. Brownstein, M.D., Ph.D.
Chief
Laboratory of Genetics
National Institute of Mental Health
National Human Genome Research Institute
National Institutes of Health
Building 36, Room 3D06
Bethesda, MD 20892
Phone: 301-496-5351
Fax: 301-435-5465
E-mail: mike@codon.nih.gov

Rocco Coli
Graduate Student
Laboratory for Familial Dysautonomia Research
Department of Biological Sciences
Fordham University
Larkin Hall, Room 160
441 East Fordham Road
Bronx, NY 10458
Phone: 718-817-3653
Fax: 718-817-3645
E-mail: coli@fordham.edu

Math P. Cuajungco, Ph.D.
Research Fellow
Harvard Institute of Human Genetics
Massachusetts General Hospital
77 Avenue Louis Pasteur, HIM 422
Boston, MA 02115
Phone: 617-432-7026
Fax: 617-432-3698
E-mail: cuajungc@helix.mgh.harvard.edu

Roy Freeman, M.D.
Director, Autonomic and Peripheral Nerve
LaboratoryDepartment of Neurology
Beth Israel Deaconess Medical Center
Deaconess Road, Palmer 111
Boston, MA 02215
Phone: 617-632-8454
Fax: 617-632-0852
E-mail: rfreeman@caregroup.harvard.edu

Nathan Gadoth, M.D.
Professor and Chairman
Department of Neurology
Meir General Hospital
Kfar-Saba
Israel
c/o Dr. Mark Hallet
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Building 10, Room 5N226
Bethesda, MD 20892
Phone: 301-594-9139
Fax: 301-480-2286
E-mail: gadoth@post.tau.ac.il

William A. Gahl, M.D., Ph.D.
Clinical Director
National Human Genome Research Institute
National Institutes of Health
Building 10, Room 10C-101
10 Center Drive, MSC 1851
Bethesda, MD 20892-1851
Phone: 301-402-2739
Fax: 301-402-2740
E-mail: bgahl@helix.nih.gov

Sandra Gill
Harvard Institute of Human Genetics
Massachusetts General Hospital
77 Avenue Louis Pasteur
Boston, MA 02115
Phone: 617-432-7015
Fax: 617-432-3698
E-mail: gills@helix.mgh.harvard.edu

David Goldstein, M.D., Ph.D.
Chief
Clinical Neurocardiology Section
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Building 10, Room 6N252
10 Center Drive, MSC 1620
Bethesda, MD 20892-1620
Phone: 301-496-2103
Fax: 301-402-0180
E-mail: goldsteind@ninds.nih.gov

Maureen K. Hahn, Ph.D.
Instructor
Center for Molecular Neuroscience
Department of Pharmacology
Vanderbilt University School of Medicine
7141 Medical Research Building 3
465 21st Avenue
Nashville, TN 37232-8548
Phone: 615-936-1701
Fax: 615-936-3745
E-mail: maureen.hahn@vanderbilt.edu

Henry and Ruth Halle
1801 East Jefferson Street, Apartment 621
Rockville, MD 20852
Phone: 301-770-6831
E-mail: henry247@hotmail.com

Melissa J. Hanson
Clinical Research Coordinator
Laboratory of Neurogenetics
National Institute on Aging
National Institutes of Health
Building 10, Room 6C103
9000 Rockville Pike
Phone: 301-451-6093
Fax: 301-480-0335
E-mail: hansonm@mail.nih.gov

John Hardy, Ph.D.
Laboratory Chief
Laboratory of Neurogenetics
National Institute on Aging
National Institutes of Health
Building 10, Room 6C103
9000 Rockville Pike
Bethesda, MD 20892
Phone: 301-451-6076
Fax: 301-480-0335
E-mail: hardyj@mail.nih.gov

Max Hilz, M.D., Ph.D.
Associate Professor
Department of Neurology
University of Erlangen-Nuremberg
Schwabachanlage 6
Erlangen 91054
Germany
Phone: 49 9131 853 4444
Fax: 49 9131 853 4328
E-mail: max.hilz@neuro.med.uni-erlangen.de

Matthew Hims, Ph.D.
Research Fellow
Harvard Institute of Human Genetics
Massachusetts General Hospital
77 Avenue Louis Pasteur
Boston, MA 02115
Phone: 617-432-7026
Fax: 617-432-3698
E-mail: mhims@partners.org
E-mail: dys212@aol.com

Tuula Kallinki, Ph.D.
Senior Scientist
Apoptosis Laboratory
Danish Cancer Society
Strandboulevarden 49
Copenhagen 2100
Denmark
Phone: 45 3525 7345
Fax: 45 3525 7721
E-mail: tk@cancer.dk

Horacio C. Kaufmann, M.D.
Associate Professor
Department of Neurology
Mount Sinai School of Medicine
One Gustave L. Levy Place
P.O. Box 1052
New York, NY 10029
Phone: 212-241-7315
Fax: 212-202-7702
E-mail: horacio.kaufmann@mssm.edu

Erin M. Keefe
Research Assistant
Laboratory for Familial Dysautonomia Research
Department of Biological Sciences
Fordham University
Larkin Hall, Room 160
441 East Fordham Road
Bronx, NY 10458
Phone: 718-817-3652
Fax: 718-817-3645
E-mail: ekeefe@fordham.edu

Rosanne B. Keep
Genetic Counselor
Division of Genetics
Department of Pediatrics
Albert Einstein Medical Center
5501 Old York Road
Philadelphia, PA 19141
Phone: 215-456-8722
Fax: 215-456-2356
E-mail: schneida@einstein.edu

William R. Kennedy, M.D.
Professor
Department of Neurology
University of Minnesota
MMC 187
420 S.E. Delaware Street
Minneapolis, MN 55455
Phone: 612-625-1431
Fax: 612-626-5671
E-mail: kenne001@umn.edu

Lauretta A. LeVoci
Graduate Student
Laboratory for Familial Dysautonomia Research
Department of Biological Sciences
Fordham University
Larkin Hall, Room 160
441 East Fordham Road
Bronx, NY 10458
Phone: 718-817-3652
Fax: 718-817-3645
E-mail: llevoci@fordham.edu

Marie Leyne
Research Fellow
Harvard Institute of Human Genetics
Massachusetts General Hospital
77 Avenue Louis Pasteur
Boston, MA 02115
Phone: 617-432-7026
Fax: 617-432-3698
E-mail: leyne@helix.mgh.harvard.edu

Lynn Lieberman
FD Hope
1309 Viewmont Drive
Niskayuna, NY 12309
Phone: 518-372-7466
Fax: 518-374-0318
E-mail: lynnl@nycap.rr.com

Shiloh Lieberman, D.D.S.
Board of Directors
FD Hope
1309 Viewmont Drive
Niskayuna, NY 12309
Phone: 518-372-7466
Fax: 518-374-0318
E-mail: drshiloh@nycap.rr.com

Stephen B. Liggett, M.D.
Professor of Medicine and Pharmacology
Division of Pulmonary and Critical Care Medicine
Department of Internal Medicine
University of Cincinnati
231 Albert Sabin Way, ML 0564
Cincinnati, OH 45267-0564
Phone: 513-558-0484
Fax: 513-558-0385
E-mail: stephen.liggett@uc.edu

Channa Maayan, M.D.
Director of Israeli Familial Dysautonomia Center
Department of Pediatrics
Hadassah Hospital Jerusalem
German Colony
7 Hanania Street
Jerusalem 93106
Israel
Phone: 972 2 5844111
Fax: 972 2 5823515
E-mail: colfrank@netvision.net.il

Audrey S. Penn, M.D.
Acting Director
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Building 31, Room 8A52
31 Center Drive
Bethesda, MD 20892-2540
Phone: 301-496-3167
Fax: 301-496-0296
E-mail: ap101d@nih.gov

Beth A. Pletcher, M.D.
Medical Geneticist
Center for Human and Molecular Genetics
University of Medicine and Dentistry of New Jersey
Medical School
90 Bergen Street, Suite 5400
Newark, NJ 07103-2499
Phone: 973-972-3300
Fax: 973-972-3310
E-mail: pletchba@umdnj.edu

Jinsong Qiu
Graduate Student
Laboratory for Familial Dysautonomia Research
Department of Biological Sciences
Fordham University
Larkin Hall, Room 160
441 East Fordham Road
Bronx, NY 10458
Phone: 718-817-3651
Fax: 718-817-3645
E-mail: qiujinsong@yahoo.com

Irma Rapaport, Ph.D.
Board of Directors
FD Hope
4 York Drive
Athens, OH 45701
Phone: 740-594-4792
E-mail: irrapaport@aol.com

Jack Rapaport, Ph.D.
FD Hope
4 York Drive
Athens, OH 45701
Phone: 740-594-4792

Rivkah Reichmann
Clinical Social Worker
Department of Family Services
Chai Lifeline
151 W. 30 Street, 3rd Floor
New York, NY 10001
Phone: 212-699-6626
Fax: 212-465-0949
E-mail: rreichmann@chailifeline.org

Quandra Scudder
Program Analyst
Neurological Disorders
National Institute of Neurological Disorders and Stroke
National Institutes of Health
6001 Executive Boulevard, Room 2136
Bethesda, MD 20892-9525
Phone: 301-496-5745
Fax: 301-402-1501
E-mail: qs3y@nih.gov

Yehonatan Sharabi, M.D.
Clinical Fellow
Clinical Neurocardiology
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Building 10, Room 6N252
10 Center Drive
Bethesda, MD 20892
Phone: 301-402-2052
Fax: 301-402-0180
E-mail: sharabiy@ninds.nih.gov

Einat Shiran, M.D.
Chairperson
Israeli Familial Dysautonomia Organization
Rambam Medical Center
38 Soroka Street
Haifa 34759
Israel
Phone: 972 50 307100
Fax: 972 48 349922
E-mail: shiran6@netvision.net.il

Suzanne Silberberg, M.D.
Board of Directors
FD Hope
3 Lovell Street
East Hawthorn
Victoria 3123
Australia
Phone: 613 98228786
Fax: 613 98224397
E-mail: sadler@bigpond.net.au

Amanda A. Singleton
Research Coordinator
Neurogenetics Branch
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Building 10, Room 6C105
10 Center Drive
Bethesda, MD 20892
Phone: 301-402-6231
Fax: 301-480-0335
E-mail: adama@ninds.nih.gov

Gail E. Sonenshein, Ph.D.
Professor
Department of Biochemistry
Boston University School of Medicine
715 Albany Street
Boston, MA 02118
Phone: 617-638-4120
Fax: 617-638-4252
E-mail: gsonensh@bu.edu

Jennifer Sonenshein
President
Dysautonomia Foundation, Inc.
633 Third Avenue, 12th Floor
New York, NY 10017
Phone: 212-949-6644
Fax: 212-682-7625
E-mail: dys212@aol.com

Giovanna Spinella, M.D.
Program Director
Neurogenetics
National Institute of Neurological Disorders and Stroke
National Institutes of Health
6001 Executive Boulevard, Room 2136
Bethesda, MD 20892
Phone: 301-496-5745
Fax: 301-402-1501
E-mail: gs41b@nih.gov

Peter M. Spooner, Ph.D
Director
Arrhythmias Ischemia and SCD Research Program
Division of Heart and Vascular Diseases
National Heart, Lung, and Blood Institute
National Institutes of Health
Rockledge II, Room 9192
6701 Rockledge Drive
Bethesda, MD 20892-7940
Phone: 301-435-0507
Fax: 301-408-1336
E-mail: spooner@nhlbi.nih.gov

Julian M. Stewart, M.D., Ph.D.
Professor
Departments of Physiology and Pediatrics
Center for Pediatric Hypotension
New York Medical College
Munger Pavilion, Suite 618
Valhalla, NY 10595
Phone: 914-594-4370
Fax: 914-594-4513
Email: stewart@nymc.edu

Miguel E. Weil, Ph.D.
Assistant Professor
Department of Cell Research and Immunology
Faculty of Life Sciences
Tel Aviv University
Ramat Aviv
Tel Aviv 69978
Israel
Phone: 972 3 6406981
Fax: 972 3 6422046
E-mail: miguelw@post.tau.ac.il

Maryon Weill
Assistant Executive Director
Dysautonomia Foundation, Inc.
633 Third Avenue, 12th Floor
New York, NY 10017
Phone: 212-949-6644
Fax: 212-682-7625
E-mail: dys212@aol.com

Chava White
Board of Directors
FD Hope
10902 Cedarhurst Drive
Houston, TX 77096
Phone: 713-723-3301
E-mail: socialworker@pdq.net

Felicia B. Axelrod, M.D.
Professor
Departments of Pediatrics and Neurology
NYU School of Medicine
530 First Avenue, Suite 9Q
New York, NY 10016
Phone: 212-263-7225
Fax: 212-263-7041
E-mail: faxelrod@rcn.com

Robert Baughman, Ph.D.
Associate Director for Technology Development
National Institute of Neurological Disorders and Stroke
National Institutes of Health
6001 Executive Boulevard, Room 2137
Bethesda, MD 20892
Phone: 301-496-1779
Fax: 301-402-1501
E-mail: rb175y@nih.gov

Anna Berkovitz
Instructor in Genetics
Department of Biological Sciences
Purdue University
1392 Lilly Hall of Life Sciences
West Lafayette, IN 47907-1392
Phone: 765-494-8108
Fax: 765-494-0876
E-mail: berkovit@bilbo.bio.purdue.edu

Dan Berkovitz, J.D.
FD Hope
5517 McKinley Street
Bethesda, MD 20817
Phone: 301-896-0202

Michelle Berkovitz, J.D.
Board of Directors
FD Hope
5517 McKinley Street
Bethesda, MD 20817
Phone: 202-736-6364
Fax: 202-736-6181
E-mail: michelle.berkovitz@wcom.com

Dena Berlin
Clinical Nurse Associate
Department of Pediatrics
New York University Familial Dysautonomia Center
New York University Medical Center
530 First Avenue, Suite 92
New York, NY 10016
Phone: 212-263-7225
Fax: 212-263-7041
E-mail: dena.berlin@med.nyu.edu

Greta Dornberg
70 Ash Drive
Roslyn, NY 11576
Phone: 516-484-8331
Fax: 516-484-8331 (call first)
E-mail: amdgfb@aol.com

Basil A. Eldadah, M.D., Ph.D.
Clinical Fellow
Clinical Neurocardiology Section
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Building 10, Room 6N252
10 Center Drive
Bethesda, MD 20892
Phone: 301-435-6746
Fax: 301-402-0180
E-mail: eldadahb@ninds.nih.gov

Rebecca Farkas, Ph.D.
AAAS Fellow
Office of Science Policy and Planning
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Building 31, Room 8A03
31Center Drive
Bethesda, MD 20892
Phone: 301-496-9271
Fax: 301-480-9172
E-mail: farkasr@ninds.nih.gov

Mavis Feinberg
Secretary
FD Hope
1029 Via de la Paz, #128
Pacific Palisades, CA 90272
Phone: 310-459-1056
E-mail: mavis.al@verizon.net

Beverly Fettman
Board Member
Dysautonomia Foundation, Inc.
5700 Arlington Avenue, #6U
New York, NY 10471
Phone: 718-543-5881
Fax: 718-543-9489
E-mail: btfettman@aol.com

Brian P. Fox
Graduate Student
Laboratory for Familial Dysautonomia Research
Department of Biological Sciences
Fordham University
Larkin Hall, Room 160
441 East Fordham Road
Bronx, NY 10458
Phone: 718-817-3651
Fax: 718-817-3645
E-mail: bfox@fordham.edu

Stephen Groft, Pharm.D.
Director
Office of Rare Diseases
National Institutes of Health
6100 Executive Boulevard
Room 3B01, MSC 7518
Bethesda, MD 20892-7518
Phone: 301-402-4336
Fax: 301-480-9655
E-mail: sg18b@nih.gov

Robert H. Gross, Ph.D.
Professor
Department of Biology
Dartmouth College
Gilman Labs, Room 104
Hanover, NH 03755
Phone: 603-646-2059
Fax: 603-646-1347
E-mail: robert.h.gross@dartmouth.edu

James Gusella, Ph.D.
Director
Molecular Neurogenetics Unit
Massachusetts General Hospital
Harvard Medical School
Building 149
13th Street
Charlestown, MA 02129
Phone: 617-726-5094
Fax: 617-726-5735
E-mail: gusella@helix.mgh.harvard.edu

Alan E. Guttmacher, M.D.
Deputy Director
National Human Genome Research Institute
National Institutes of Health
Building 31, Room 4B09
31 Center Drive
Bethesda, MD 20892
Phone: 301-496-0844
Fax: 301-402-2268
E-mail: guttmach@mail.nih.gov

Katrina Gwinn-Hardy, M.D.
Program Director
Neurological Disorders
National Institute of Neurological Disorders and Stroke
National Institutes of Health
6001 Executive Boulevard, Room 2136
Bethesda, MD 20892-9525
Phone: 301-496-5745
Fax: 301-402-1501
E-mail: gwinnk@ninds.nih.gov

Kurt Hirschhorn, M.D.
Professor
Departments of Pediatrics, Human Genetics and Medicine
Mount Sinai School of Medicine
One Gustave L. Levy Place
P.O. Box 1497
New York, NY 10029-6574
Phone: 212-241-4305
Fax: 212-426-4371
E-mail: kurt.hirschhorn@mssm.edu

Eric J. Huang, M.D., Ph.D.
Assistant Professor
Attending Neuropathologist
Departments of Neurology and Neuropathology
University of California, San Francisco
Pathology Service
San Francisco VA Medical Center, 113B
4150 Clement Street
San Francisco, CA 94121
Phone: 415-221-4810, ext. 2620
Fax: 415-750-6947
E-mail: ejhuang@itsa.ucsf.edu

Giris Jacob, M.D., D.Sc.
Director
Jacob Recanati Autonomic Dysfunction Center
Rambam Medical Center
Bat-Galem
Haifa 31096
Israel
Phone: 972 4 833 7674
Fax: 977 4 854 3308
E-mail: ejhuang@itsa.ucsf.edu

Jens Jordan, M.D.
Franz-Volhard Clinical Research Center
Humboldt University
Wiltbergstrausse 50
Berlin 13125
Germany
Phone: 49-30-9417-2581
Fax: 49-30-9417-2587
E-mail: jordan@fvk.charite-buch.de

Lisa Joseph
Vice President
Dysautonomia Foundation, Inc.
633 Third Avenue, 12th Floor
New York, NY 10017
Phone: 212-949-6644
Fax: 212-682-7625
E-mail: dys212@aol.com

Mark Joseph
Parent
Dysautonomia Foundation, Inc.
633 Third Avenue, 12th Floor
New York, NY 10017
Phone: 212-949-6644
Fax: 212-682-7625

Irwin J. Kopin, M.D.
Scientist Emeritus
Clinical Neurocardiology Section
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Building 10, Room 6N252
10 Center Drive
Bethesda, MD 20892
Phone: 301-496-4297
Fax: 301-402-0180
E-mail: kopini@ninds.nih.gov

Jesse H. Lachter, M.D.
Senior Clinical Lecturer
Senior Attending Physician
Department of Gastroenterology
Rambam Medical Center
Hantke Street 36
Haifa 34608
Israel
Phone: 972 4 8247826
Fax: 972 4 8543058
E-mail: ramila@netvision.net.il

Laurent Landau
Vice President
Dysautonomia Foundation, Inc.
139 West 82nd Street
New York, NY 10024
Phone: 212-688-1198
Fax: 212-688-2325
E-mail: laurent@lcidiamonds.com

Robin Landau
Parent
Dysautonomia Foundation, Inc.
139 West 82nd Street
New York, NY 10024
Phone: 212-688-1198
Fax: 212-688-2325
E-mail: laurent@lcidiamonds.com

Story Landis, Ph.D.
Scientific Director
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Building 36, Room 5A05
36 Convent Drive
Bethesda, MD 20892
Phone: 301-435-2232
Fax: 301-480-5634
E-mail: landiss@ninds.nih.gov

Andrew M. Lauber
Case Manager
Chai Lifeline
151 West 30th Street, 3rd Floor
New York, NY 10001
Phone: 212-698-6668
Fax: 212-465-0949
E-mail: alauber@chailifeline.org

Eliyahu Mass, D.M.D.
Department of Pediatric Dentistry
School of Medicine
Tel Aviv University
Tel Aviv 69978
Israel
Phone: 972 58 608400
Fax: 972 3 6409250
E-mail: elimas@post.tau.ac.il

James D. Mull
Research Fellow
Harvard Institute of Human Genetics
Massachusetts General Hospital
4 Blackfan Circle
Boston, MA 02115
Phone: 617-432-7026
Fax: 617-432-3698
E-mail: mull@helix.mgh.harvard.edu

Huda Mussaffi-Georgy, M.D.
Pediatric Pulmonology Unit
Schneider Children's Medical Center of Israel
14 Kaplan Street
Petah Tikva 49202
Israel
Phone: 972 3 9253654
Fax: 972 3 9523147
E-mail: hgeorgy@netvision.net.il

Daniel T. O'Connor, M.D.
Professor of Medicine
Department of Nephrology
University of California, San Diego
3350 La Jolla Village Drive, 111H
San Diego, CA 92161
Phone: 858-552-8585, ext. 7373
Fax: 858-642-1145
E-mail: doconnor@ucsd.edu

Barry Orton, Ph.D.
Board of Directors
FD Hope
4718 Lafayette Drive
Madison, WI 53705
Phone: 608-262-2394
Fax: 608-265-2329
E-mail: bmorton@facstaff.wisc.edu

Sonia R. Peltzer, M.D.
President
FD Hope
1457 O'Brian Drive
Newton, NC 28658
Phone: 828-466-1678
Fax: 828-465-3118
E-mail: speltzer2@aol.com

David Robertson, M.D.
Professor of Medicine, Pharmacology, and Neurology
Clinical Research Center
Vanderbilt University
1161 21st Avenue South, MCN, AAA 3228
Nashville, TN 37232-2195
Phone: 615-343-6499
Fax: 615-343-8649
E-mail: david.robertson@vanderbilt.edu

Matthew J. Rork
Graduate Student
Laboratory for Familial Dysautonomia Research
Department of Biological Sciences
Fordham University
Larkin Hall, Room 160
441 East Fordham Road
Bronx, NY 10458
Phone: 718-817-3651
Fax: 718-817-3645
E-mail: mjrork@yahoo.com

Lenore Roseman
Executive Director
Dysautonomia Foundation, Inc.
633 Third Avenue, 12th Floor
New York, NY 10017
Phone: 212-949-6644
Fax: 212-682-7625
E-mail: dys212@aol.com

Berish Rubin, Ph.D.
Chairman and Professor
Biological Sciences Department
Fordham University
Larkin Hall, Room 160
441 East Fordham Road
Bronx, NY 10458
Phone: 718-817-3642
Fax: 718-817-3828
E-mail: rubin@fordham.edu

Donna Ruppert
Executive Director
FD Hope
Fifth Avenue
Conover, NC 28613
Phone: 828-695-1060
Fax: 828-695-1060
E-mail: druppert@charter.net

Adele Schneider, M.D.
Director, Clinical Genetics
Division of Genetics
Department of Pediatrics
Albert Einstein Medical Center
5501 Old York Road
Philadelphia, PA 19141
Phone: 215-456-8722
Fax: 215-456-2356
E-mail: schneida@einstein.edu

Andrew B. Singleton, Ph.D.
Chief
Molecular Genetics Section
Laboratory of Neurogenetics
National Institute on Aging
National Institutes of Health
Building 10, Room 6C103
9000 Rockville Pike, MSC 1589
Bethesda, MD 20892
Phone: 301-451-6079
Fax: 301-480-0315
E-mail: singleta@mail.nih.gov

Susan A. Slaugenhaupt, Ph.D.
Assistant Professor of Neurology
Harvard Institute of Human Genetics
Massachusetts General Hospital
HIM Building, Room 422
77 Avenue Louis Pasteur
Boston, MA 02115
Phone: 617-432-7025
Fax: 617-432-3698
E-mail: slaugenh@helix.mgh.harvard.edu

Ann Slaw, J.D.
FD Hope
1170 Green Knolls Drive
Buffalo Grove, IL 60089
Phone: 847-913-9377
E-mail: fdhopebg@aol.com

Kenneth M. Slaw, Ph.D.
Vice-President
FD Hope
1170 Green Knolls Drive
Buffalo Grove, IL 60089
Phone: 847-913-9377
Fax: 847-913-8589
E-mail: fdhopebg@aol.com

Daniel P. Smith
President
National Dysautonomia Research Foundation
1407 West 4th Street, Suite 160
Red Wing, MN 55066
Phone: 651-267-0525
Fax: 651-267-0524
E-mail: dpsmith@ndrf.org

Linda Smith
Executive Director and Founder
National Dysautonomia Research Foundation
1407 West 4th Street, Suite 160
Red Wing, MN 55066
Phone: 651-267-0525
Fax: 651-267-0524
E-mail: lsmith@ndrf.org

Don Summers
President
The Shy-Drager Syndrome/Multiple System Atrophy Support Group
2004 Howard Lane
Austin, TX 78728
Phone: 866-737-4999
Fax: 512-251-3315
E-mail: don.summer@shydrager.com

Jesper Q. Svejstrup, Ph.D.
Head of Laboratory
Cancer Research UK
London Research Institute
Clare Hall Laboratories
Blanche Lane
South Mimms, Hertfordshire EN6 3LD
United Kingdom
Phone: 44 207 269 3960
Fax: 44 207 269 3801
E-mail: j.svejstrup@cancer.org.uk

Gary Swergold, M.D., Ph.D.
Assistant Professor
Division of Molecular Medicine
Department of Medicine
Columbia University College of Physicians and Surgeons
630 West 168th Street
New York, NY 10032
Phone: 212-305-2174
Fax: 212-342-5316
E-mail: gs314@columbia.edu

Nicole R. Toto
Research Assistant
Laboratory for Familial Dysautonomia Research
Department of Biological Sciences
Fordham University
Larkin Hall, Room 160
441 East Fordham Road
Bronx, NY 10458
Phone: 718-817-3652
Fax: 718-817-3645
E-mail: toto@fordham.edu

Sabrina A. Volpi
Graduate Student
Laboratory for Familial Dysautonomia Research
Department of Biological Sciences
Fordham University
Larkin Hall, Room 160
441 East Fordham Road
Bronx, NY 10458
Phone: 718-817-3653
Fax: 718-817-3645
E-mail: volpis@aol.com

Yang Xu, Ph.D.
Assistant Professor
Department of Biology
University of California, San Diego
9500 Gilman Drive
La Jolla, CA 92093-0322
Phone: 858-822-1084
Fax: 858-534-0053
E-mail: yangxu@ucsd.edu

David Zagzag, M.D., Ph.D.
Division of Neuropathology
Department of Pathology
New York University Medical Center
550 First Avenue
New York, NY 10016
Phone: 212-263-6449
Fax: 212-263-8994
E-mail: dz4@nyu.edu

Robert Zalutsky, Ph.D.
Senior Science Advisor
Office of Science Policy and Planning
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Building 31, Room 8A03
31Center Drive
Bethesda, MD 20892
Phone: 301-496-9271
Fax: 301-480-9172
E-mail: zalutskb@ninds.nih.gov

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