Anita Bhattacharyya, PhD, is a senior scientist at the Waisman Center. She uses human stem cells to gain insight into early brain development in Down syndrome and Fragile X syndrome. Using neural stem cells with trisomy 21 or the Fragile X mutation, she studies the development of the cerebral cortex.
Anita Bhattacharyya’s lab examines how brain development is altered in developmental disorders characterized by intellectual impairment. The cerebral cortex is the most complex area of the brain and is responsible for functions unique to humans, such as language and abstract thought. Problems in any of the crucial cerebral cortex formation steps can lead to intellectual impairment.
DS is caused by an extra chromosome (Trisomy 21), while FXS is due to a single gene mutation (FMR1 gene). Dr. Bhattacharyya uses human pluripotent stem cells that carry either trisomy 21 or FMR1 to study the development of the human cerebral cortex. These stem cells have intrinsic characteristics that can be investigated to further our understanding and treatment of developmental disorders. By defining the mistakes in neurodevelopment that lead to intellectual impairment, scientists may be able to target therapeutics for these developmental disorders.
- Using trisomy 21 iPSCs to study Down syndrome cortical development
DS is the most common genetic developmental disorder that leads to intellectual and developmental disability. Mouse models have implicated reduced neurogenesis and faulty synaptic development as important contributors to the mental impairment characteristic of DS. While mouse models are crucial, they cannot explain all the complexities of human brain development making it important to examine the effects of trisomy 21 in the context of human cells. Human neural development in DS has not been well studied. An innovative way to study the development of particular cell types is through the use of human pluripotent stem cells. We are using trisomy 21 iPSC to study different aspects of cortical development in DS including interneuron development and the effects of oxidative stress on neuron function.
- Fragile X iPSCs
The consequences of the Fragile X mutation in human neuronal development has not been well defined, which hinders the translation of mouse discoveries into human therapies. We are using human Fragile X (FXS) iPSCs to determine whether FXS cells exhibit neurogenesis and neuronal maturation deficits as seen in human patients and mouse models. We are also using these cells to better understand and potentially reverse the silencing of the FXS gene caused by the mutation.