Aug
12
Mon
2013
Plenary Talk: Realistic modeling-new insight into the functions of the cerebellar network @ Amriteshwari Hall
Aug 12 @ 1:37 pm – 2:24 pm

egidioEgidio D’Angelo, MD, Ph.D.
Full Professor of Physiology & Director, Brain Connectivity Center, University of Pavia, Italy


Realistic modeling: new insight into the functions of the cerebellar network

Realistic modeling is an approach based on the careful reconstruction of neurons synapses starting from biological details at the molecular and cellular level. This technique, combined with the connection topologies derived from histological measurements, allows the reconstruction of precise neuronal networks. Finally, the advent of specific software platforms (PYTHON-NEURON) and of super-computers allows large-scale network simulation to be performed in reasonable time. This approach inverts the logics of older theoretical models, which anticipated an intuition on how the network might work.  In realistic modeling, network properties “emerge” from the numerous biological properties embedded into the model.

This approach is illustrated here through an outstanding application of realistic modeling to the cerebellar cortex network. The neurons (over 105) are reproduced at a high level of detail generating non-linear network effects like population oscillations and resonance, phase-reset, bursting, rebounds, short-term and long-term plasticity, spatiotemporal redistrbution of input patterns. The model is currently being used in the context of he HUMAN BRAIN PROJECT to investigate the cerebellar network function.

Correspondence should be addressed to

Dr. EgidioD’Angelo,
Laboratory of Neurophysiology
Via Forlanini 6, 27100 Pavia, Italy
Phone: 0039 (0) 382 987606
Fax: 0039 (0) 382 987527
dangelo@unipv.it

Acknowledgments

This work was supported by grants from European Union to ED (CEREBNET FP7-ITN238686, REALNET FP7-ICT270434) and by grants from the Italian Ministry of Health to ED (RF-2009-1475845).

Egidio

Aug
13
Tue
2013
Invited Talk: Interpretation of Genomic Variation – Identifying Rare Variations Leading to Disease @ Sathyam Hall
Aug 13 @ 10:20 am – 10:40 am

SrinivasanRajgopal Srinivasan, Ph.D.
Principal Scientist & Head Bio IT R&D, TCS Innovation Labs, India


Interpretation of Genomic Variation – Identifying Rare Variations Leading to Disease

Genome sequencing technologies are generating an abundance of data on human genetic variations. A big challenge lies in interpreting the functional relevance of such variations, especially in clinical settings. A first step in understanding the clinical relevance of genetic variations is to annotate the variants for region of occurrence, degree of conservation both within and across species, pattern of variation across related individuals, novelty of the variation and know effects of related variations.  Several tools already exist for this purpose. However, these tools have their strengths and weaknesses. A second issue is the development of algorithms, which, given a rich annotation of variants are able to prioritize the variants as being relevant to the phenotype under investigation.

In my talk I will detail work that has been done in our labs to address both of the above problems. I will also illustrate the application of these tools that helped identify a rare mutation in the ATM gene leading to a diagnosis of AT in two infants.