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FD Research and Publications
 
Clinical, Genetic and Basic FD Research
Scientific Advisory Board
FD Publications
Recent FD Publications
Recent FD Clinical Research Projects
 
 

The Dysautonomia Foundation encourages and financially supports clinical, genetic and basic science research into FD by funding the work of eminent scientists throughout the world.  We are especially proud that the researchers in all areas actively communicate and exchange information to foster progress. Approximately every two years, the foundation sponsors a basic and/or clinical research conference, in which experts from around the world come together to discuss current research and future directions. The most recent conference was held in September, 2008.

The Dysautonomia Foundation is the single largest funding source for FD treatment and research. The foundation sponsors a variety of clinical and basic science research programs, and the foundation collaborates with other organizations to jointly fund FD research projects.
 

 

 
Clinical Research

The Dysautonomia Foundation funds the world's only two FD treatment and clinical research centers. The New York-based (NYU) and Israeli-based (Hadassah-Mt. Scopus) Dysautonomia Centers specialize in clinical care and research in FD. Some of the studies are independent and some are collaborative.

At both Centers, patients are given the opportunity to participate in specific clinical research studies. Information about current research is available here. Patients should contact a member of staff at the Center if they are interested in participating in a particular project.

Past clinical research has led to the development of new treatments, which have not only altered the prognosis of the disease, but also enhanced quality of life.

 
THE DYSAUTONOMIA CENTER AT NYU SCHOOL OF MEDICINE

The NYU Dysautonomia Center has a state of the art clinical research laboratory fully equipped to perform neurophysiological tests of sensory and autonomic nerve function. The Laboratory provides the scientific basis needed for diagnosis, investigation and management of autonomic disorders. Dr. Horacio Kaufmann heads the Dysautonomia Research Laboratory as the Felicia B. Axelrod Professor for Dysautonomia Research. Dr. Kaufmann works in close collaboration with Dr. Felicia Axelrod and the rest of the Dysautonomia Center�s staff.

Equipment for the research lab has been funded in part by grants to the Dysautonomia Foundation from the Dororthy B. Hersh Foundation and the State of New York.

A unique resource of the Dysautonomia Center is a comprehensive electronic relational database of complete medical information of 595 patients with familial dysautonomia dating back to 1970. It is the world's only comprehensive FD patient registry. This repository of information allows a unique analysis of the natural history of patients with FD. These historical controls form the benchmark to analyze the effects of prospective therapeutic interventions. The data is collected on an ongoing basis and banked while maintaining patient confidentiality.
 

tilt table
A patient is examined on the tilt table at the NYU Dysautonomia Research Laboratory

 
 
THE DYSAUTONOMIA CENTER AT HADASSAH MEDICAL SCHOOL

Dr. Channa Maayan is the principal investigator at the Israeli Dysautonomia Center and maintains close collaborations with appropriate specialists in many other areas. Dr. Maayan is a pediatric pulmonologist. He work focuses on describing the functional problems of patients with familial dysautonomia. She is a collaborator on many of the basic science research protocols currently underway in Israel.



Genetic Research

Genetic research, starting in 1990, focused primarily on identifying the FD gene, with the goal of producing a general population screening test and developing of genetic therapies for the treatment of FD. The foundation has supported a series of research projects at the Molecular Neurogenetics Unit of Massachusetts General Hospital under the direction of Dr. James Gusella and Dr. Susan Slaugenhaupt. In 1993, their laboratory narrowed down the FD gene mutation to chromosome 9 q31, and their discovery provided, for the first time, a biochemical marker to allow prenatal diagnosis and carrier testing for affected families. By 1999, their continued research made possible carrier screening. In early 2001, Gusella and Slaugenhaupt identified the common FD gene mutation, as well as several minor mutations, which cause a deficiency in the protein IKAP. Their work since has focused on understanding the gene's function, development of a mouse model and identifying specific gene therapies to reverse the enzyme deficiency. Their laboratory discovered that the nutritional supplement kinetin increases the production of IKAP. Trials of kinetin are currently underway at the Dysautonomia Center in patients with FD.
 
 

Basic Science Research

Basic science research is also funded at various institutions with the objective of defining the functional effects of the FD gene mutation at a cellular level. Projects have been conducted at:

University of Tennessee, Memphis
Bar Ilan University, Israel
Tel Aviv University, Israel
Harvard, University, Massachusetts General Hospital
Institute of Cancer Biology; Danish Cancer Society; Copenhagen, Denmark

 

Scientific Advisory Board

Chairperson
Michael J. Brownstein, MD, PhD
Scientist Emeritus, NIH
 
Felicia B. Axelrod, MD
New York University
 
C. Wayne Bardin, MD
 Bardin LLC
 
 Joseph Dancis, MD, Hon.
 New York University
 
Robert Gross, PhD
 Dartmouth College
 
 James Gusella, PhD
 Harvard University
 
 Kurt Hirschhorn, MD
 Mount Sinai Medical Center
 
 Michael M. Kaback, MD
 U. Of California at San Diego
 
 Edwin H. Kolodny, MD
 New York University
 
 Irwin J. Kopin, MD
 National Institutes of Health
 
 James Lupski, MD, PhD
 Baylor College of Medicine
 
 Joseph B. Martin, MD, PhD
 Harvard Medical School
 
 Peter N. Ray, PhD
 University of Toronto
 
Eric Schon, PhD
Columbia University
 
 Gail E. Sonenshein, PhD
 Boston University Medical School
 


Past FD Publications

  • Riley CM, Day RL, Greeley D McL, Langford WS: (1949) Central autonomic dysfunction with defective lacrimation. Report of 5 cases. Pediatrics 3: 468-477
     

  • Axelrod FB, Dancis J. (1973) Intrauterine growth retardation in familial dysautonomia. Am J Dis Child 125: 379-380
     

  • Axelrod FB, Leistner H, Porges RF (1974) Breech presentation in familial dysautonomia. J Pediatr  84: 107-108
     

  • Pearson J, Axelrod FB, Dancis J (1974) Current concepts of dysautonomia: neurological defects. Ann NY Acad Sci 228: 288-300
     

  • Pearson J, Dancis J, Axelrod FB, Grover-Johnson N (1975) The sural nerve in familial dysautonomia. J Neuropathol Exp Neurol 34: 413-424
     

  • Pearson J, Pytel B, Grover-Johnson N, Axelrod FB, Dancis J(1978) Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia. J Neurol Sci 35: 77-97.
     

  • Porges RF, Axelrod FB, Richards M (1978) Pregnancy in familial dysautonomia. Amer J Obstet Gyn 132:485-488
     

  • Welton W, Clayson D, Axelrod FB, Levine DB (1979) Intellectual development and familial dysautonomia. Pediatrics 63: 708-712
     

  • Clayson D, Welton W, Axelrod FB (1980) Personality development and familial dysautonomia. Pediatrics 65: 269-274
     

  • Pearson J, Gallo G, Gluck M, Axelrod FB (1980) Renal disease in familial dysautonomia. Kidney Int 17: 102-112
     

  • Axelrod FB, Iyer K, Fish I, Pearson J, Sein ME, Spielholz N (1981) Progressive sensory loss in familial dysautonomia. Pediatrics 65: 517-522
     

  • Axelrod FB, Abularrage JJ (1982) Familial dysautonomia. A prospective study of survival. J Pediatr 101: 234-236
     

  • Axelrod FB, Schneider KM, Ament ME, Kutin ND, Fonkalsrud EW (1982) Gastroesophageal fundoplication and gastrostomy in familial dysautonomia. Ann Surg 195: 253-258
     

  • Mitnick J, Axelrod FB, Genieser N, Becker M (1982) Aseptic necrosis in familial dysautonomia. Radiology 142: 89-91
     

  • Axelrod FB, Pearson J (1984) Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia. Am J Dis Child 138: 947-954
     

  • Axelrod FB, Porges RF, Sein ME (1987) Neonatal recognition of familial dysautonomia. J Pediatr 110: 946-948
     

  • Maayan CH, Kaplan E, Shachar Sh, Peleg O, Godfrey S, (1987): Incidence of familial dysautonomia in Israel 1977-1981. Clinical Genetics 32: 106-108
     

  • Axelrod FB, Donnenfeld R, Danziger F, Turndorf H (1988) Anesthesia in familial dysautonomia. Anesthesiology 68: 631-635, 1988.
     

  • Axelrod FB, Gouge TH, Ginsburg HB, Bangaru BS, Hazzi C (1991) Fundoplication and gastrostomy in familial dysautonomia. J Pediatr 118: 388-394
     

  • Rutkowski M, Axelrod FB, Danilowicz D. (1992) Transient third-degree atrioventricular block in a 4-year-old-child with familial dysautonomia. Pediatr Cardiol ; 13: 184-186
     

  • Axelrod FB, Glickstein JS, Weider J, Gluck MC, Friedman D:(1993) The effects of postural change and exercise on renal haemodynamics in familial dysautonomia. Clinical Autonomic Research 3, 195-200
     

  • Blumenfeld A, Slaugenhaupt SA, Axelrod FB, Lucente DE, Maayan Ch, Lieberg CB, Ozelius LJ, Trofatter JA, Haines JL, Breakefield XO, Gusella JF (1993) Localization of the gene for familial dysautonomia on Chromosome 9 and definition of DNA markers for genetic diagnosis. Nature Genetics 4: 160-164
     

  • Glickstein JS, Schwartzman D, Friedman D, Rutkowski M, Axelrod F (1993) Abnormalities of the corrected QT interval in familial dysautonomia: an indicator of autonomic dysfunction. Journal of Pediatrics 122: 925-928
     

  • Axelrod FB, Krey L, Glickstein JS, Friedman D, Weider J, Metakis L, Porges VM, Mineo M, and Notterman D. (1994) Atrial natriuretic peptide and catecholamine response to orthostatic hypotension and treatments in familial dysautonomia. Clin Auton Res 4, 311-318
     

  • Rubery PT, Spielman JH, Hester P, Axelrod F, Burke SW, Levine DB. (1995) Scoliosis in familial dysautonomia. J of Bone and Joint Surgery 77, 1362-1369
     

  • Oddoux C, Reich E, Axelrod F, Blumenfeld A, Maayan C, Slaugenhaupt S, Gusella J, Ostrer H. (1995) Prenatal diagnostic testing for familial dysautonomia using linked genetic markers. Prenatal Diagnosis 15: 817-826
     

  • Axelrod, FB., Krey, L., Glickstein, JS, Weider-Allison, J, Friedman, D. (1995) Preliminary observations on the use of midodrine in treating orthostatic hypotension in familial dysautonomia. J Auton Nerv. System 55: 29-35
     

  • Axelrod FB, Goldstein DS, Holmes C, Berlin D, Kopin IJ. (1996) Pattern of plasma levels of catecholamines in familial dysautonomia. Clin Auton Res 6: 205-209.
     

  • Axelrod FB, Putman D, Berlin D, Rutkowski M. (1997) Electrocardiographic measures and heart rate variability in patients with familial dysautonomia. Cardiology 88: 133-140.
     

  • Hilz MJ, Axelrod FB, Sauer P, Hagler A, Russo H, Neundorfer B. (1997) Cold face stimulation demonstrates parasympathetic dysfunction in familial dysautonomia. Journal of the Autonomic Nervous System 65 :111.
     

  • Weiser M. , Hilz MJ, Bronfin L, Axelrod FB (1998) Assessing microcirculation in familial dysautonomia by laser Doppler flowmeter. Clinical Autonomic Research 8: 13-23.
     

  • Axelrod FB (1998) Familial dysautonomia: A 47 year perspective. How technology confirms clinical acumen. Journal of Pediatrics132:S2-S5.
     

  • Hilz MJ, Kolodny EH, Neuner I, Stemper B, and Axelrod FB (1998) Highly abnormal thermotest in familial dysautonomia suggests increased cardiac autonomic risk. Journal of Neurology, Neurosurgery, and Psychiatry.65:338-343
     

  • Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan Ch, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Medillo M, Schiripo T, Mishori E, Breakefield X. Axelrod FB, Gusella JF. (1999) Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. Am J Hum Genet 64:1110-1118.

  • Slaugenhaupt SA, Mull J, Leyne M, Cuajungco MP, Gill SP, Hims M, Quinero F, Axelrod FB, Gusella JF.  Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. Hum. Mol. Genet. (2004); 0: 461-0.

  •  Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan Ch, Gusella JF, Axelrod FB, Slaugenhaupt SA. (2003) Identification of the first non-Jewish mutation in Familial Dysautonomia. Am J of Med Genet 118A:305-308.  

  • Cuajungco MP, Leyne M, Gill SP, Mull J, Lu W, Zagzag  D, Axelrod FB, Gusella JF, Maayan Ch, Slaugenhaupt SA. (2003)  Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with Familial Dysautonomia.Am J Hum Genet 72:749-758.  

  • Brown CM, Stemper B, Welsch G, Brys M, Axelrod FB, Hilz MJ. (2003) Orthostatic challenge reveals impaired vascular resistance control but normal venous pooling and capillary filtration in Familial Dysautonomia. Clinical Science 104:163-169.  

  • Stemper B, Axelrod F, Marthol H, Brown C, Brys M, Welsch G, Hilz MJ. (2003) Terminal Vessel hyperperfusion despite organ hypoperfusion in familial dysautonomia, Clin Sci (in press).  

  • Bickel A, Axelrod FB, Marthol H, Schmelz M, Hilz MJ. (2003)  Sudomotor function in Familial Dysautonomia, J Neurol Neurosurg Psychiatry 75:275-279.  

  • Cuajungco MP, Ando Y, Axelrod FB, Biaggioni I, Goldstein DS, Guttmacher AE, Gwinn-Hardy K, Hahn MK, Hilz MJ, Jacob G, Jens J, Kennedy WR, Liggett SB, O'Connor DT, Peltzer SR, Robertson D, Rubin BY, Scudder Q, Smith LJ, Sonenshein GE, Svejstrup JQ, Xu Y, Slaugenhaupt SA. (2003) Hereditary dysautonomias: current knowledge and collaborations for the future. Clin Auton Res;13(3):180-95.   

  • Saini J, Axelrod FB, Maayan C, Stringer J, Smilen SW. Urinary incontinence in familial dysautonomia. Int Urogynecol J (2003) 14:209-213.  

  • Kamboj M, Axelrod FB, David R, Geffner ME, Novogroder M,Oberfield SE, Turco JH, Maayan Ch, Kohn B. Growth hormone treatment in children with familial dysautonomia. J Pediatrics (2003) 144: 63-67. 

  • Hilz MJ, Axelrod FB, Haertl U, Brown CM, Stemper B.  (2002) Transcranial doppler sonography during head up tilt suggests preserved central sympathetic activation in familial dysautonomia. Journal of Neurol  Neurosurg Psychiatry;72:657-660.  

  • Dutsch M, Hilz MJ, Rauhut U, Solomon J, Neundorfer B, and Axelrod FB (2002) Sympathetic pupillary dysfunction in familial dysautonomia. Journal of Neurol Sci 195:77-83.  

  • Bickel A, Axelrod FB, Schmetz M, Marthal H, Hilz MJ. (2002) Dermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia. J Neurol Neurosurg Psychiatry 73:299-302.  

  • Axelrod FB (2002) Hereditary Sensory and Autonomic Neuropathies: Familial Dysautonomia and other HSANs. Clin Auton Res 12 Supplement 1, 2-14.  

  • Axelrod FB (2002) Genetic disorders a models to understand autonomic dysfunction. Clin Auton Res 12 Supplement 1, 1.  

  • Zaenglein AL, Chang MW, Meehan SA, Axelrod FB, Orlow SJ (2002) Extensive Riga-Fede disease of the lip and tongue. Journal Amer Acad Derm 47,445-7.  

  • Axelrod FB, Goldberg JD, Ye XY, Maayan C.(2002) Survival in familial dysautonomia: Impact of early intervention. J Pediatr;141:518-23.  

  • Hilz MJ, Axelrod FB, Steingrueber M, Stemper.(2002) Valsalva maneuver suggests increased rigidity of cerebral resistance vessels in familial dysautonomia. Clin Autonom Res.12:385-92.  

  • Hilz MJ, Axelrod FB, Braeske K, Stemper. (2002) Cold pressor test demonstrates residual sympathetic cardiovascular activation in familial dysautonomia. J Neurol Sci 196: 81-9.  

  • Bernardi L, Hilz M, Stemper B, Passino C, Welsch G, Axelrod FB. (2002) Respiratory and cerebrovascular responses to hypoxia and hypercapnia in familial dysautonomia. Am J Respir Crit Care Med. 167:141-149. 2001 Laplaza J.,  Turajane, T., 

  • Axelrod, F.B. and Burke, S.W.  (2001) Non-spinal orthopaedic problems in familial dysautonomia. J of Pediatric Orthopedics 21:229-232  

  • Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CE, Chadwick B, Idelson M, Reznik L, Robbins CM, Makalowskia I, Brownsein MJ, Krappmann D, Scheidereit C, Maayan CH, Axelrod FB , Gusella J. (2001) Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Human Genetics 68. 598-604.

  • Chadwick BP, Leyne M,Gill SP, Liebert CB, Mull J, Mezey E, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Gusella JF, Slaugenhaupt SA. (2000) Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31. Mammalian Genome 11.  

  • Axelrod, FB,   Zupanc, M, Hilz, MJ,  Kramer, EL. (2000) Ictal SPECT during autonomic crisis in familial dysautonomia. Neurology 55: 122-125.  

  • Hilz, M.J., and Axelrod, F.B.  (2000) Quantitative sensory testing of thermal and vibratory perception in familial dysautonomia. Clin Aut Res 10: 177-183.  

  • Hayek, S., Laplaza J.,   Axelrod, F.B. and Burke, S.W.  (2000) Spinal deformity in familial dysautonomia: Prevalence and results of brace management. J of Bone and Joint Surgery (American), 82: 1558-1562.  

  • Maayan Ch, Sela, S, Axelrod FB, Kidron, D, Hochner-Celnikier D. (2000) Gynecological aspects of female familial dysautonomia. Isr Med Assoc Journal. 2:679-683. 

 

Recent FD Publications


When diseases disappear--the case of familial dysautonomia. Lerner BH. N Engl J Med. 2009 Oct 22;361(17):1622-5.
 
Generation of neural crest cells and peripheral sensory neurons from human embryonic stem cells. Goldstein RS, Pomp O, Brokhman I, Ziegler L. Methods Mol Biol. 2010;584:283-300.
 
Chest computed tomography findings in familial dysautonomia patients: a model for aspiration. Hiller N, Simanovsky N, Bahagon C, Bogot N, Maayan C. Isr Med Assoc J. 2009 Jul;11(7):393-7.
 
Anesthetic management of renal transplantation in a patient with familial dysautonomia. Koshibe G, Lee HT. J Anesth. 2009;23(4):579-82. Epub 2009 Nov 18.
 
Loss-of-function of IKAP/ELP1: could neuronal migration defect underlie familial dysautonomia? Naumanen T, Johansen LD, Coffey ET, Kallunki T. Cell Adh Migr. 2008 Oct;2(4):236-9. Epub 2008 Oct 17.

 
Weese-Mayer DE, Kenny AS, Bennett HL, Ramirez JM, Leurgans SE.
Familial dysautonomia: Frequent, prolonged and severe hypoxemia during wakefulness and sleep. 
Pediatr Pulmonol. 2008 Jun;43(6):624-625

 Chariot A, Creppe C, Cornez I, Chariot MA. 
In Process Citation
(IKAP - Elongator)  Bull Mem Acad R Med Belg. 2007;162(5-6):315-22

 Goldstein DS, Holmes C, Axelrod FB.
Plasma Catechols in Familial Dysautonomia: A Long-term Follow-up Study.
Neurochem Res. 2008 Mar 21
Johansen LD, Naumanen T, Knudsen A, Westerlund N, Gromova I, Junttila M, Nielsen C, B�ttzauw T, Tolkovsky A, Westermarck J, Coffey ET, J��ttel� M, Kallunki T.

IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration. 
J Cell Sci. 2008 Mar 15;121(Pt 6):854-64. Epub 2008 Feb 26.

Gold-von Simson G, Leyne M, Mull J, Rolnitzky LM, Goldberg JD, Berlin D, Axelrod FB, Slaugenhaupt SA.
IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia.
Pediatr Res. 2008 Feb;63(2):186-90.
 
Axelrod FB, Gold-von Simson G.
Hereditary sensory and autonomic neuropathies: types II, III, and IV.
  Orphanet J Rare Dis. 2007 Oct 3;2:39.
  
Axelrod, FB, Gold-vonSimson, G. Familial Dysautonomia: Update and Recent Advances. Current Problems in Pediatric and Adolescent Health Care Volume 36 - Number 6
 

 


 
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