Our understanding of the genetics of neuropsychiatric disorders has changed dramatically over the last 10 years, driven by a technological revolution that has enabled high-resolution analysis of the genomes of hundreds of thousands of individuals. Extensive fine-scale maps of human variation, both single nucleotide and structural, provide the necessary genetic markers for genome-wide association studies. High-throughput methods for genotyping and so-called next generation sequencing machines are now available at reasonable costs. While human geneticists have had a long history of success identifying genes for single-gene disorders, the coupling of genetic information and technology has led to a proliferation of insights into complex multigenic disorders.

Areas of Research and Clinical Focus

Technological developments in single-cell and spatial multiomics are enabling understanding of the brain in health and disease at unparalleled resolution. Integration of these data with genetics and deeply phenotyped cohorts is set to enable a revolution in understanding disease mechanisms and the development of improved diagnostics and treatment. One of our major new areas of study is research harnessing the complexity of data available through genetics, neuroimaging, and molecular studies by applying systems biology approaches. Another is the application of innovative stem cell technologies to study brain cells induced from a patient's skin or blood cells, thereby allowing the study of brain disorders in disease relevant cells. The use of assembloids and organoid cultures derived from stem cells have further enabled the study of complex cellular interactions. Genome editing in combination with these complex culture systems and xenotransplantation has led to the identification of the earliest molecular changes resulting from disease-associated variants.

Our researchers are at the forefront of these studies across major illnesses.

Scientists involved in genetics research include:

• Schahram Akbarian, MD, PhD
• Joel Blanchard, PhD
• Michael Breen, PhD
• Joseph Buxbaum, PhD
• Alex Charney, MD, PhD
• Jinye Dai, PhD
• Pengfei Dong, PhD
• Fanny Elahi, MD, PhD
• Gang Fang, PhD
• John F Fullard, PhD
• Sam Gandy, MD, PhD
• Kiran Girdhar, PhD
• Alison Goate, DPhil
• Gabriel Hoffman, PhD
• Kuan-lin Huang, PhD
• Donghoon Lee, PhD
• Baihan Lin, PhD
• Edoardo Marcora , PhD
• Niamh Mullins, PhD
• Paul O’Reilly, PhD
• Inga Peter, PhD
• Dalila Pinto, PhD
• Towfique Raj, PhD
• Alan Renton, PhD
• Panos Roussos, MS, MD, PhD
• Robert Sebra, PhD
• Eric Schadt, PhD
• Andrew Sharp, PhD
• Georgios Voloudakis, MD, PhD
• Herbert Wu, PhD
• Biao Zeng, PhD
• Bin Zhang, PhD