PPT-Apert Syndrome and FGFR2

Sophia Lenzmeier University of WisconsinMadison What are the symptoms of Apert Syndrome acrocephalo syndactyly tall or peaked skull amp fused digits What gene is mutated in Apert Syndrome. and How We Can Help it Think Better. . . Jeff Shrager. Cancer Commons, and . Symbolic Systems. 1. . Precision Oncology. : Cancer in the Omic Era. 2. The obvious thing: Model/Literature-based tools:. Julie A. Dunlap, MS, CCC-SLP. SPHSC . 543. Winter 2010. Genetic Diseases. ~3-4% of all children are born with a major genetic or congenital disease . Not only extremely rare diseases. Importance of correct diagnosis. Knowledge Network. Accelerate . cancer R&D. By efficiently searching for treatments and cures. By learning from . every. patient both retrospectively and prospectively. By shattering the silos to share . gene . family aberrations in. cholangiocarcinoma. Katsuyuki Miyabe, MD, PhD. . Lewis R. . Roberts, MB ChB, PhD. . Introduction. I enrolled . in . Medical School and Graduate School in Japan. During my training I became aware of the enormous amount . Apert SyndromeSaikat Datta Sandip Saha Arnab KarAbstractApert syndrome is one of the craniosynostosis syndromes which due to its association with other skeletal anomalies is also known as acrocephalos Sophia Lenzmeier . Key features of Apert Syndrome. acrocephalo. syndactyly. tall or peaked skull . & . fused digits. Fusion of cranial sutures and associated symptoms. Sutures normally act as expansion joints allowing for stretching when the brain grows. 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. FGFR2. FGFR3. FGFR4. NCI-H295R. FGFR1. FGFR2. FGFR3. FGFR4. a. drenal. . cortex. Additional . file. . 2. Page 1 of 3 Apert syndrome : information for families Apert syndrome is a type of complex craniosynostosis named after the doctor who first described it in the early 20th century. As well as the sk A guide to diagnosis and treatment 2 A Guide to the Diagnosis and Treatment of Apert Syndrome A Guide to the Diagnosis and Treatment of Apert Syndrome H aving a child born with Apert syndrome may feel 1 - 2013 Background Information ApertAsyndromeA(AS)AisAaAgene�cAdisorderAthatA a�ectsAtheAbody’sAgrowthAandAdevelopmentAinA manyAways.AASAimpactsAtheAgrowthAofAtheAbonesAofA t Food Group Foods to Eat Foods to Limit Meats, Poultry, any made with sweetened fruit Dairy choose low lactose, lactose free dairy if regular dairy is not sweetened ice cream, sweetened SUMMARY region, and a divided tyrosine kinase domain. NumerousmRNA isoforms of the alternative splicing in the extracellular, juxtamembrane, andintracellular domains (reviewed by Givol and Yayon, 1992 1163 IInntteerrnnaattiioonnaall JJoouurrnnaall ooff BBiioollooggiiccaall mediates signaling for FGFs. Recent studies detected various point mutations of FGFR2 in multiple types of cancers, includ