Research

Our research would not be possible without the generous participation of patients and their families. If you would like to learn more about participating in our ongoing studies, please visit our participate page or email us at findgenes@yale.edu

Our current focus is to discover which combinations of genes or proteins increase risk for several neuropsychiatric disorders in individuals and extended families. There are multiple approaches to this type of discovery, including (1) identification of genetic sequence changes in those with disease, (2) detecting deletions and duplications that encompass larger regions of human chromosomes (e.g. insertions, deletions, and copy number variants), and (3) finding markers on DNA that regulate gene expression but do not alter the genetic sequence or structure (i.e. epigenetic markers that are dynamic throughout development). The goal of this research is to identify networks of genes that increase risk for illness and teach us larger lessons about underlying disease biology that can be leveraged for improving diagnosis and treatment.

We use the following techniques in our research:

• DNA sequencing (whole-exome, whole-genome, and targeted sequencing)
• RNA sequencing (RNA-seq or whole transcriptome sequencing)
• Proteomic biomarker discovery (high-multiplex immunoassays and mass spectrometry)
• Induced pluripotent stem cell (iPSC) generation and neuronal modeling of disease mutations
• SNP genotyping and methylation arrays
• Droplet digital PCR (ddPCR)

Browse our publications that are laying the foundation for a better understanding of neuropsychiatric illness and improved treatments.

Yale Child Study Center
230 South Frontage Road
New Haven, CT 06520

Thomas Fernadez, MD
Principal Investigator
Email: thomas.fernandez@yale.edu
Phone: 203-713-3113