Neurodevelopmental disorders (NDDs) comprise of a group of disorders associated with abnormal brain development. Rare genetic variants have been shown to play a key role in their development, especially in those NDDs which are severe in nature. During the last decade, genetic testing has emerged as an important etiological diagnostic test for NDDs with a considerable impact on disease management and treatment. Yet, current genetic testing has a diagnostic rate of ~ 50%. Due to technical limitations in modern next-generation sequencing techniques, these techniques fail to asses a large part of the genome (2/3rd), missing critical regions which may have clinical significance. New methods now have emerged that can assess these regions better, can access repetitive regions and identify complex structural genomic events with more accuracy. This project will employ and integrate novel genomic technologies, including optical genome mapping and long read sequencing, to perform a comprehensive investigation of the human genome in parent-child trios which remained genetically unsolved after standard genomic approaches.

This is an UNPAID research project.

Faculty Advisor

  • Professor: Isabelle Schrauwen
  • Center/Lab: Neurology
  • Location: CUMC, prespytarian hospital
  • Dr. Schrauwen’s research focuses on examining the genetic basis and pathogenic mechanisms of sensory and neurological disorders.

Project Timeline

  • Earliest starting date: 10/15/2022
  • End date: 6/3/2023
  • Number of hours per week of research expected during Fall 2022: ~10

Candidate requirements

  • Skill sets: fluency in R/Python
  • Student eligibility: freshman, sophomore, junior, senior, master’s
  • International students on F1 or J1 visa: eligible
  • Academic Credit Possible: Yes
  • Additional comments: No