Dr. Talkowski received a Ph.D. in human genetics and performed his postdoctoral training in neurodevelopmental genomics. The Talkowski laboratory is interested in understanding the consequence of genomic variation on human disease. We study the genetic etiology of disorders affecting prenatal, neonatal, and early childhood development, particularly autism spectrum disorder (ASD) and related neurodevelopmental and psychiatric disorders.

Questions being addressed in the lab

  1. Characterization of genome structure and function
  2. Discovery of genes associated with human disease and the functional consequences of genetics lesions
  3. Translation of emerging technologies to new diagnostic methods for genomic medicine

Projects underway to answer these questions

  1. Characterization of structural variation contributing to human disease.

     

  2. Click to view
  3. Functional genomic modeling of reciprocal genomic disorders

  4. Click to view
  5. Implementation of Genomic Medicine: Whole-genome Sequencing of a Fetus in Prenatal Diagnostics Detects a Balanced Rearrangement

  6. Click to view

Answers Found

  1. Discovery of abundant classes of complex SVs in autism probands

  2. Click to view
  3. Chromosome shattering occurs in the human germline

  4. Click to view
  5. Chromosomal rearrangements disrupt three-dimensional genome structure

  6. Click to view