Manipal Genetics Update V
Genomics of Neurodevelopmental Disorders
9th and 10th of February, 2018 at Kasturba Medical College, Manipal, India
                         
HOME | ABOUT US | FACULTY | PROGRAM | TRAVEL & ACCOMODATION | IN AND AROUND MANIPAL | REGISTRATION | ABSTRACT SUBMISSION | PAST & FORTHCOMING EVENTS

Manipal Genetics Update V
Genomics of Neurodevelopmental Disorders
Kasturba Medical College, Manipal
9 – 10 February, 2018
 
Day 1
9th February 2018
8:30 - 9:00 am Registration  
9:00 - 9:30 am Inauguration and John M Opitz Award Presentation  
Session 1 Chairpersons: John Carey and Meenakshi Bhat  
9:30 - 10:00 am Identifying novel genes for intellectual disability: The value of phenotyping Bert de Vries
10:00 - 10:30 am Differential diagnosis of Angelman-Like disorders: New insights from genomic testing Jill Clayton-Smith
10:30 - 11:00 am Break  
Session 2 Chairpersons: Suvasini Sharma and Kausik Mandal  
11:00 - 11:30 am Baraitser-Winter syndrome and the ACTB and ACTG1 genes Daniela Pilz
11:30 - 12:00 pm Histone lysine methylases and demethylases in the landscape of human developmental disorders Siddharth Banka
12:00 - 12:30 pm Genes and cellular mechansims involved in monogenic progeroid disorders Christian Kubisch
12:30 -1:30 pm Lunch  
Session 3 Chairpersons: Rajagopal Kadavigere and Kalpana Gowrishankar  
1:30 - 2:00 pm Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: Further delineation of a new chaperone-mediated tubulinopathy Annick Raas-Rothschild
2:00 - 2:30 pm Classification and exome sequencing of Developmental Brain Disorders (DBD): Novel genes and phenotype Ghayda Mirzaa
2:30 - 3:00 pm Arhinia, to have or not to have a nose Bruno Reversade
3:00 - 3:30 pm Break  
Session 4 Chairpersons: Sheela Nampoothiri and Sunita Bijarnia  
3:30 - 4:00 pm Reflections on the 'rational' genetic evaluation of children with developmental delay and autism John Carey
4:00 - 4:30 pm Histone H2A mono-ubiquitylation in development and autism spectrum disorder Stephanie Bielas
4:30 - 5:30 pm Poster session Judges: Siddharth Banka and Stephanie Bielas
7:00 pm onwards Entertainment and Dinner: Chaitya Hall, Hotel Fortune Inn Valley View  
 
Day 2
10th February 2018
Session 5 Chairpersons: Kerstin Kutsche and Jill Clayton-Smith  
8:00 – 9:00 am Oral presentations  
Session 6 Chairpersons: Ramesh Bhat and Ashwin Dalal  
9:00 - 9:30 am Role of Whole Genome Sequencing in Neurodevelopmental Disorders and the future Peter Bauer
9:30 - 10:00 am Classification, diagnosis, genes and mechanisms in pontocerebellar hypoplasia Kerstin Kutsche
10:00 - 10:30 am Exome sequencing and functional studies in neurodevelopmental disorders: novel genes and phenotypes Frederike Harms
10:30 - 11:00 am Break  
Session 7 Chairpersons: Vijay Chandran and Shubha Phadke  
11:00 - 11:30 am Defects of mitochondrial translation - clinically and genetically heterogeneous William Newman
11:30 - 12:00 pm Defining the molecular basis of mitochondrial disease Robert Taylor
12:00 - 12:30 pm Genomics of neurodevelopmental disorders: Manipal experience Anju Shukla
12:30 - 1:30 pm Lunch  
Session 8 Chairpersons: Shrikiran Hebbar and Shagun Aggarwal  
1:30 - 2:00 pm Clinical genetics in pediatric neurology: Illustrative cases in Indian scenario Vrajesh Udani
2:00 - 2:30 pm Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds and small cerebellum: A new syndrome Hülya Kayserili
2:30 - 3:00 pm Microcephaly and genomic alterations Shubha Phadke
3:00 – 3:30 pm Break  
Panel discussion Chairpersons: Ashwin Dalal and Leslie Lewis  
3:30 - 4:00 pm From newborn screening to newborn genome sequencing- the leap forwardMadhuri Hegde
4:00 - 4:45 pm Genomics of neurodevelopmental disorders in India: Current practice and the way ahead
Moderator: Ashwin Dalal
Panelists: Ramprasad VL, Lokesh Lingappa, Mahesh Kamate, Sunita Bijarnia, Girisha KM
4:45 - 5:00 pm Concluding remarks Girisha KM