PPT-Moebius Syndrome: Research Opportunities

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 . Global Names e-Infrastructure. Dimitris Koureas . &. Vince Smith. Natural History Museum London. Jönköping, Sweden. October 27-31, 2014. Maintenance. Funding application. Project starts. Project ends. Undergraduates from Underrepresented Groups—Students . in Life and Physical Sciences, Mathematics, Engineering, and Social Sciences. Maryland Center for Undergraduate Research, 2100D McKeldin Library, ugresearch@umd.edu. Dr Sylvia Shaw. Middlesex University. The research project : “Gender and Linguistic. Participation in the Devolved Parliaments of . the UK”. An ESRC funded project that aims to investigate gender and linguistic participation in the ‘new’ devolved institutions of the UK: The Scottish parliament, the National Assembly for Wales and the Northern Ireland Assembly. Mark Dunning. Chairman, Founder, Usher Syndrome Coalition. Chairman, Founder, Decibels Foundation. Director of Information Technology, L.E.K. Consulting. Father, Bella and Jack. Bella’s Story. 17 Years Old. {Template Slide Set}. 1. Overview. What are Hereditary Breast and Ovarian Cancer syndrome (HBOC) and Lynch . s. yndrome (LS)?. How common are LS and HBOC? . How do LS and HBOC affect individuals and families?. Kathleen Bogart, PhD. Associate Professor of Psychology. Oregon State University. Overview. Living with FP. Others’ impressions of people with FP. Facilitating communication. Living with FP. Types of FP. A genetic disorder that causes delays in physical and intellectual development.. Causes of Down Syndrome. Caused by extra genetic material from chromosome 21. Prenatal Testing. Amniocentesis:. procedure in which a small sample of amniotic fluid is drawn out of the uterus through a needle inserted in the abdomen. Bayu. Lestari. What will be Impaired in This Patient?. Obese. Insulin Resistance?. Dyslipidemia? (High TG, High LDL, Low LDL). T2DM?. Metabolic Syndrome. High prevalence of metabolic . s. yndrome: relation between glucose and lipid metabolism. Shannon Stewart . Calvin College, Grand Rapids, Michigan . Clinical Trials. ClinicalTrials.gov.  lists trials that are related to Postural orthostatic tachycardia syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies. . CHARGE syndrome is thought to be caused by a mutation in the gene CHD7on chromosome #8. It occurs in 1 out of every 10,000 births and is affects males and females at equal rates and has been diagn the baby exhibited multiple cranial nerve palsies, craniofacial dysmorphisms, as well as orthopedic manifestations. The baby exhibited a squint, reduced visual acuity, and pallor of the discs (CN VI). physical and learning disabilities.. ABOUT ANGELMAN SYNDROME. Angelman syndrome is rare . and affects roughly 1 in 15,000 people.. ABOUT ANGELMAN SYNDROME. There are approximately 500,000 individuals globally living with Angelman syndrome.. Relatively common disorder caused by the loss of genetic material from one of the sex chromosomes. . Affects only females. Clinical features. Short stature (143-145cm tall). Loss of ovarian function. In 1866, an English doctor named John Langdon DOWN described the characteristics of Down syndrome. . What were some of the characteristics John Langdon Down observed?. Your body is made up of TRILLIONS of cells. Each cell is a copy of a single cell that divided itself to make all the cells in your body. Your cells need instructions to create who you are. Your DNA, genes and chromosomes work together to tell your body how to form and function. .