Joseph D. Buxbaum

2 months ago | nature.com | Diego L. Rovaris |Sintia I. Belangero |Sheila T. Nagamatsu |Caroline M Nievergelt |Roseann E. Peterson |Laura Sloofman | +28 more

AbstractPsychiatric disorders are highly heritable and polygenic, influenced by environmental factors and often comorbid. Large-scale genome-wide association studies (GWASs) through consortium efforts have identified genetic risk loci and revealed the underlying biology of psychiatric disorders and traits. However, over 85% of psychiatric GWAS participants are of European ancestry, limiting the applicability of these findings to non-European populations.

Jul 24, 2024 | nature.com | Joseph D. Buxbaum

AbstractActivity-dependent neuroprotective protein (ADNP) syndrome is a rare neurodevelopmental disorder resulting in intellectual disability, developmental delay and autism spectrum disorder (ASD) and is due to mutations in the ADNP gene. Ketamine treatment has emerged as a promising therapeutic option for ADNP syndrome, showing safety and apparent behavioral improvements in a first open label study. However, the molecular perturbations induced by ketamine remain poorly understood.

May 30, 2024 | cell.com | Yi Yang |Qi Wang |Chen Wang |Joseph D. Buxbaum

Both trio and population designs are popular study designs for identifying risk genetic variants in genome-wide association studies (GWASs). The trio design, as a family-based design, is robust to confounding due to population structure, whereas the population design is often more powerful due to larger sample sizes. Here, we propose KnockoffHybrid, a knockoff-based statistical method for hybrid analysis of both the trio and population designs.