The Low-Hanging Fruit: Exploring Monogenic Syndromes with Autism

  Рет қаралды 523

Autism Research Institute

Autism Research Institute

4 ай бұрын

Learn research updates on how genes associated with autism are functioning in the brain and how changes in these genes are linked to characteristics of autism and other conditions.
Free certificates of participation are available upon successful completion of a brief knowledge quiz at autism.org/molecular-and-cell...
Dr. Daniel Vogt, PhD, is an Assistant Professor in the College of Human Medicine’s Department of Pediatrics and Human Development. Dr. Vogt’s lab is investigating the molecular and cellular mechanisms underlying autism. The lab is particularly interested in understanding how genes implicated in autism are functioning in the brain and how mutations in these genes lead to symptoms of autism and related conditions. One hypothesis is that some characteristics of autism are caused by an imbalance in neuronal excitation and inhibition. To this end, Dr. Vogt’s lab is focusing on understanding how inhibitory neurons develop and function. In addition, the lab seeks to understand how mutations discovered in autism genes alter their function.
Dr. Vogt’s research has elucidated how key developmental genes influence inhibitory neuron development. In particular, his research was important in uncovering how the gene, Lhx6, a transcription factor required for inhibitory neuron development, controls the cell fate of inhibitory neurons derived from the median ganglionic eminence (MGE) (Neuron, 2014). Dr. Vogt also developed an in vivo approach to assess the impact that human mutations discovered in autism patients have on gene function. This approach was tested with the autism candidate gene, PTEN, and demonstrated that mutations in PTEN resulted in defects in inhibitory neuron development (Cell Reports. 2015). The lab’s goal is to continue to screen mutations in genes implicated in autism to uncover both common and unique symptoms that are caused by genes. Finally, the lab seeks to combine the knowledge gained from the screening of mutations and the knowledge from studying individual genes to uncover new insights into inhibitory neuron development.

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