Bryn D Webb MD FACMG Assistant Professor Depts of Genetics amp Genomic Sciences and Pediatrics Icahn School of Medicine at Mount Sinai April 6 2018 What is Moebius Syndrome Eponymously named for German neurologist Paul Julius ID: 1043935
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1. Moebius Syndrome: Research OpportunitiesBryn D. Webb, MD, FACMGAssistant ProfessorDepts. of Genetics & Genomic Sciences and PediatricsIcahn School of Medicine at Mount SinaiApril 6, 2018
2. What is Moebius Syndrome?Eponymously named for German neurologist Paul Julius Möbius, who reported features of the condition in 1888Original description was provided by German ophthalmologist Dr. A. Von Graefe in 1880Variability/disagreement in the literature regarding the precise definition of Moebius syndromeP.J. MöbiusVon Graefe
3. Moebius Syndrome: DefinitionIn 2007, at a MSF research conference, Moebius syndrome was defined as congenital, non-progressive facial weakness with limited abduction of one or both eyesWebb BD, McCarrell V, Neurology Reviews, 2019.
4. Moebius Syndrome: Associated FeaturesAffected persons may have additional symptoms including, but not limited to:Other Cranial Nerve involvementStrabismusHearing lossClub footLimb reduction deficitsOther limb anomaliesPoland anomalyMuscular hypotoniaCongenital heart diseaseDevelopmental delay/ intellectual disability (~30%)Autism (~25%)
5. Moebius Syndrome: Epidemiology and EtiologyIncidence is roughly 2 to 20 cases per million birthsOccurs in all ethnicitiesNo gender bias (males and females affected similarly)Most commonly a sporadic occurrence (usually one person in the family affected)
6. Moebius Syndrome Research ConsortiumFormally initiated when applying for an NIH grant in 2013Includes investigators from Mount Sinai, Boston Children’s Hospital, and the NIHAlso collaborations with outside investigatorsFunded by NIH (U01 HD079068) from Jan 2014- Dec 2018Multi-center collaboration continues
7. Objectives of Moebius Syndrome ResearchPhenotyping identify associated features and frequencydetermine subtypes, if possiblePerform natural history study Example: how do persons with Moebius syndrome do over time?Identify etiologies (environmental, genetic)Employ state of the art sequencing techniques (whole exome sequencing (WES), whole genome sequencing (WGS) to identify genetic changes that may cause Moebius syndrome or related facial weakness disorders
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9. Whole Exome Sequencing
10. Known Genetic Etiologies of Facial Weakness ConditionsHereditary Congenital Facial Paresis (HOXB1)Congenital fibrosis of extraocular muscles, 3A (TUBB3)Webb et al, AJHG, 2012.Chew et al, Brain, 2013.
11. Known Genetic Etiologies of Facial Weakness Conditions Cont’d.Carey Fineman Ziter syndrome (Moebius plus Pierre Robin) (MYMK)Native American Myopathy (STAC3)DiGioia et al, Nat Commun, 2017.Telegrafi, Webb et al, AJMG A, 2018.
12. How To ParticipateComplete consent form Complete questionnaireAlso helpful to perform physical exam or share medical recordsProvide saliva sample for isolation of DNAEnrollment can be done today at the conference or can also be completed via phone & mail
13. Contact Information:Bryn D. Webb, MD, FACMGAssistant ProfessorDept. of Genetics & Genomics Sciences Icahn Institute for Genomics & Multiscale BiologyIcahn School of Medicine at Mount SinaiNew York, NY, USAOffice tel.: 212.241.1481E-mail: Bryn.webb@mssm.edu