Webinar: “Update on Complications and Rare Forms of EDS”

dr stoler boston

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TOPIC: “Update on Complications and Rare Forms of EDS”

PRESENTER: Dr. Joan Stoler

 

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About our speaker: Dr. Joan Stoler

– Dr. Joan Stoler is a clinical geneticist at Boston Children’s Hospital and assistant professor of Pediatrics at Harvard Medical School.

– She is the director of clinical genetics and runs a clinic for patients with connective tissue disorders.

– Dr. Stoler has evaluated and followed many patients over the last twenty-five years, both adults and children with connective tissue disorders, such as Marfan syndrome and Ehlers Danlos syndrome.

– She graduated from Brandeis University summa cum laude in 1977, Columbia University College of Physicians and Surgeons in 1981 and did her residency in pediatrics at Tufts Medical Center.

– Dr. Stoler did her fellowship in genetics at the Massachusetts General Hospital.

– She is board certified in pediatrics and clinical genetics and is on the board of directors for the American Board of Medical Genetics and Genomics.

– Dr. Stoler is currently the program director for the Harvard genetics training program.

CLICK HERE for more about Joan Stoler, MD

Dr. Stoler has published many articles on Ehlers-Danlos syndrome including the following:

Stoler JM, Bromley B, Castro MA, Cole WG, Florer J, Wenstrup RJ. Separation of Amniotic Membranes after Amniocentesis in an Individual with the Classical Form of EDS and Haploinsufficiency for COL5A1 Expression. Am J Med Genet 2001:101:174-7.

http://onlinelibrary.wiley.com/doi/10.1002/ajmg.1331/abstract

Stoler JM, Oaklander AL. Patients with Ehlers Danlos Syndrome and CRPS: A possible association? Pain 2006;123:204-9.

http://rsds.org/wp-content/uploads/2015/02/Stoler_Pain_2010.pdf

Taub CC, Stoler JM, Perez-Sanz T, Chu J, Isselbacher EM, Picard MH, Weyman AE. Mitral valve prolapse in Marfan syndrome: An old topic revisited. Echocardiography, 2009;26:357-64.

http://www.ncbi.nlm.nih.gov/pubmed/19054044

Guo MH, Stoler J, Lui J, Nilsson O, Bianchi DW, Hirschhorn JN, Dauber A. Redefining the progeroid form of Ehlers-danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature. Am J Med Genet A 2013;161:2519-7.

http://www.ncbi.nlm.nih.gov/pubmed/23956117

Karaa A, Stoler JM. Ehlers Danlos Syndrome: An unusual presentation you need to know about.Case Rep Pediatr. 2013;2013:764659. doi: 10.1155/2013/764659. Epub 2013 May 16.

 http://www.ncbi.nlm.nih.gov/pubmed/23762718

Pauker SP, Stoler J. Clinical manifestations and diagnosis of Ehlers Danlos Syndrome.  UpToDate 2013.

http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-ehlers-danlos-syndromes

Pauker SP, Stoler J. Overview of the management of the Ehlers Danlos Syndromes. UpToDate 2014.

http://www.uptodate.com/contents/overview-of-the-management-of-ehlers-danlos-syndromes

Wooderchak-Donahue W, VanSant-Webb C, Tvrdik T, Plant P, Lewis T, Stocks J, Raney JA, Meyers L, Berg A, Rope AF, Yetman AT, Bleyl SB, Mesley R, Bull DA, Collins RT, Ojeda MM, Roberts A, Lacro R, Woerner A, Stoler J, Bayrak-Toydemir P. Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.  Am J Med Genet A 2015:167:1747-57.

http://www.ncbi.nlm.nih.gov/pubmed/25944730

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