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TOPIC: “Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders – Overview of Diagnosis and Management”
PRESENTER: Clair Francomano MD
Dr. Francomano is board-certified in internal medicine, clinical genetics and clinical molecular genetics. She is a member of the American College of Physicians, the American Society of Human Genetics and the American College of Medical Genetics and Genomics, of which she is a founding fellow.
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About our speaker: Clair Francomano MD
- Dr. Francomano received her undergraduate degree at Yale University and her medical degree from The Johns Hopkins University School of Medicine.
- She trained in internal medicine and medical genetics at Johns Hopkins and joined the full-time Hopkins faculty in 1984.
- Dr. Francomano has held positions as Clinical Director and Chief of the Medical Genetics Branch at the National Human Genome Research Institute, National Institutes of Health and Chief of the Human Genetics and Integrative Medicine Section in the Laboratory of Genetics, National Institute on Aging.
- She is board-certified in internal medicine, clinical genetics and clinical molecular genetics. She is a member of the American College of Physicians, the American Society of Human Genetics and the American College of Medical Genetics and Genomics, of which she is a founding fellow.
- Since 2005, Dr. Francomano has been Director of Adult Genetics at the Harvey Institute for Human Genetics, Greater Baltimore Medical Center.
- She currently serves as Chair of the Medical and Scientific Board of the Ehlers-Danlos Society.
Recent bibliography:
- Jessica Bowen J, Sobey G, Burrows NP, Colombi M, Lavallee M, Malfait F, Francomano C. Ehlers-Danlos syndrome, classical type. Am J Med Genet Part C Semin Med Genet 175C:27-39, 2017.
- Henderson F, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano C, Ireton C, Klinge P, Koby M, Long D, Patel S, Singman E. Neurological and spinal manifestations of the Ehlers-Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:195-211, 2017.
- Chopra P, Tinkle BT, Hamonet C, Brock I, Gompel A, Bulbena A, Francomano C. Pain management in Ehlers-Danlos syndrome. Am J Med Genet Part C Semin Med Genet 175C:212-219, 2017.
- Joseph AW, Joseph SS, Francomano CA, Kontis TC. Characteristics, Diagnosis and Management of Ehlers-Danlos Syndromes: A Review. JAMA Facial Plast Surg. 20(1):70-75, 2018
- Roma M, Marden CL, DeWandele I, Francomano CA, Rowe PC. Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome. Autonomic Neuroscience: Basic and Clinical (2018), https://doi.org/10.1016/j.autneu.2018.02.006
- Blackburn PR, Xu Z, Tumelty KE, Zhao RW, Monis WJ, Harris KG, Gass JM, Cousin MA, Boczek NJ, Mitkov MV, Cappel MA, Francomano CA, Parisi JE, Klee EW, Faqeih E, Alkuraya FS, Layne MD, McDonnell NB, Atwal PS. Biallelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. Am J Hum Gene102:696-705, 2018.
- Muriello M, Clemens JL, Mu W, Tran P, Rowe PC, Smith CH, Francomano C, Bodurtha J, Kline AD. Pain and Sleep Quality in Children with Non-Vascular Ehlers-Danlos Syndromes. Am J Med Genet A 176(9):1858-`864, 2018.
- Baig S, Paisey R, Dawson C. Barrett T, Maffei P, Hodson J, Rambhatia SB, Chauhan P, Bolton S, Dassie F, Francomano C, Marshall RP, Belal M, Skordilis K, Hayer M, Price AM, Cramb R, Edwards N, Steeds RP, Geberhiwot T. Defining renal phenotype in Alström Syndrome. Nephrol Dial Transplant, Oct. 2018. Epub ahead of print https://doi.org/10.1093/ndt/gfy293
- Schubart JR, Schilling A, Schaefer E, Bascom R, Francomano C. Use of prescription opioid and other drugs among a cohort of persons with Ehlers-Danlos syndrome: A retrospective study. Am J Med Genet A 179(3):397-403, 2019. DOI: 1002/ajmg.a.61031
- Henderson Sr. FC, Francomano CA, Koby M, Tuchman K, Adcock, J, Patel J. Cervical Medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up after craniocervical reduction, fusion and stabilization. Neurosurgical Review, 2019. Epub ahead of print: https://doi.org/ 10.1007/s10143-018-01070-4
- Mu W, Muriello M, Clemens JL, Wang Y, Smith CH, Tran PT, Rowe PC, Francomano CA, Kline AD, Bodurtha J. Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders. Am J Med Genet A 179(4):561-569, 2019. DOI: 10.1002/ajmg.a.61055
- Bascom R, Mills S, Smith T, Zuckley LM, Francomano CA, McDonnell N. Heritable disorders of connective tissue: description of a data repository and initial cohort characterization. Am J. Med Genet A, 179 (4):552-560, 2019. DOI: 10.1002/amjg.a.61054
Click here for more about Clair Francomano MD
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