Over half of children with NF1 have some form of learning disability or issues with attention, while nearly one quarter of children with NF1 have difficulties with social interactions (autism). While many of these children are successfully treated with medication and behavior therapy, we aim to better understand these features of NF1 in order to improve treatment and patient care.

Defining the role of the NF1 gene in normal brain development

The observation that children with NF1 have learning, memory and behavioral problems suggests that the NF1 gene is important in brain development and function.

To understand the role of the NF1 protein (neurofibromin) in normal brain development, Dr. David Gutmann and Dr. Corina Anastasaki are using mice and human cells. These studies are aimed at determining the mechanisms by which the NF1 gene controls the growth of progenitor cells (neural stem cells) and their differentiation into neurons, astrocytes and oligodendrocytes. The goal of these studies is to determine exactly how neurofibromin regulates normal brain development and function with an eye towards future treatments that leverage these new insights.

Developing new treatments for learning, behavioral, motor and sleep deficits in children with NF1

Many children with NF1 have learning difficulties, behavioral problems (autism, attention deficit), motor delays, and sleep disturbances. In an effort to develop new treatments for these common problems, cross-disciplinary studies by Drs. Susan Maloney, Yuan Pan, and Nicole Brossier at the Washington University NF Center are leveraging Nf1 genetically-engineered mice to identify why these problems arise and how best to treat them.