Modern Genomic Approaches to Heritable Disease

CCMB Symposium - "Modern Genomic Approaches to Heritable Disease"

Monday, May 12th 2014 in the Warren Alpert Medical School Building
Lecture Hall 170 - 1st Floor


At its most fundamental level the goal of genetics is to connect genotype to phenotype. Increasingly, this question is being asked in the clinic. Up until recently, hereditary diseases were analyzed by classical genetic methods. Remarkably, the modes of inheritance of diseases such as phenylketonuria, Huntington’s disease, cystic fibrosis and sickle cell were all understood before the recognition of DNA as the molecule of hereditary. However advances in DNA sequencing and genomics in the post genomic era has revolutionized biology and medicine. Currently, entire genomes of individuals are being sequenced. Genome wide association studies are increasingly connecting diseases to networks of genes.  This symposium will describe new technology and examine how modern methods provide new insight into a broad range of human disease. The session will cover recent advances in data analysis and follow the adoption of sequencing technology into the clinic. 


9:00 -9:45 - Breakfast

9:45-10:00 - Introduction
10:00-11:00 - Dr. Shamil Sunyaev - "Predicting the Functional Effect of Human Mutations from Comparative Genomics: the Role of Epistasis"
11:00 - 12:00 - Dr. Arthur Beaudet - "Clinical Whole-Exome Sequencing in the Diagnosis of Mendelian Disorders"
12:00 -1:15 - Lunch
1:15 - 2:15 - Dr. John Quackenbush - “The Road to Precision Medicine is Paved with Data”
2:15 - 2:45 - Dr. William Fairbrother - “Detecting Causal Variants in Sequencing Data”
2:45 - 3:00 - Coffee Break.
3:00 - 4:00 - Dr. Jun J Yang - “The Genetic Basis of Childhood Acute Lymphoblastic Leukemia: Inherited and Acquired Variations”
4:00 - 5:00 - Dr. Constantin Polychronakos - “Type 1 Diabetes: Heredity and Beyond”
5:00 - 6:00 - Reception and Poster Session  (wine & cheese outside lecture hall)


Confirmed Speakers include:
Dr. Shamil Sunyaev 
Dr. Arthur Beaudet 
Dr. Constantin Polychronakos 
Dr. John Quackenbush
Dr. Jun J. Yang
Dr. William Fairbrother