The field of neuroscience lacks diversity, and the pool of students looking to enter it is no different. There are many reasons for this, but the most essential one is the grim fact that generations of people from diverse backgrounds have not been afforded the same opportunities in the sciences as the broader population. Two promising programs one in the Department of Neurology at Harvard Medical School and the other in the Department of Neurology at Boston Children's Hospital are doing something about this.

Catherine Browning's research focuses on gene discovery for several severe genetic disorders including very early onset psychosis, intellectual disability, autism spectrum disorder, and hypophosphatemic rickets. Recently, her work has focused on women’s genetic syndromes as well as access to genetic medicine by underrepresented groups. While not in the lab, Dr. Brownstein loves to travel and adores her pets. Including a surprise aquatic specimen brought home by her kids.

Large and small scale structural variants in the human genome might modulate gene expression in ways that influences physiological response and/or the clinical course of disease. Many of these structural variants go unrecognized using standard Next Generation Sequencing (NGS). The Bionano Genomics Saphyr System overcomes these limitations. Bionano Saphyr and one of the only OGM systems in Boston.

As an undergrad, I worked closely with a preschooler with autism. He had very limited language and despite receiving a lot of excellent support, he made little progress. Then one day he spontaneous said a full sentence - “I want pizza!”. This dichotomy - how a child can have the ability to speak, but not functionally use this ability - spurred my initial research interests in autism and continues to guide much of my research interests.

Transcranial magnetic stimulation (TMS) is a method for focal noninvasive cortical stimulation where small intracranial electrical currents are induced by a strong extracranial magnetic field. TMS falls into the broad category of “neuromodulation” protocols that include a range of invasive and noninvasive methods for delivering electrical signals to the brain and spinal cord. However, unlike most brain stimulation techniques that are deployed for treatment in drug-resistant disorders, TMS stands out as a method with as much diagnostic as therapeutic capacity.

I have always been interested in how complex systems form. As I realized that the developing brain is more complex than anything else in technology or nature, an interest in Computer Science in high school led to a focus in Biomedical Physics and Neuroscience in college and graduate school, and then finally evolved to choosing Child Neurology and the study of Neurodevelopmental Disorders and Intellectual Disability as a career path.

As a burgeoning physician-scientist entering graduate school I was fascinated by the inherent problem presented by developmental biology, how a simple collection of cells gives rise to complex structures, a problem that seemed particularly challenging in the nervous system. For my thesis work, I explored how retinoids, powerful signals generated from vitamin A in the diet, influenced the development and specification of motor neurons in the spinal cord.  I was struck by how even brief periods of nutrient or other deprivation could have such lasting consequences for the nervous system.

New Gene Discovery for syndromic intellectual disability has been described. Researchers at the RSZ-Translational Neuroscience Center @BostonChildrens are leading efforts to better understand this disorder, recently named “Chopra-Amiel-Gordon syndrome.”

Dr. Beth Steven's research is focused on understanding how neural-immune interactions in the brain sculpt synapses during normal development and how this process can go awry in disease. We discovered that microglia, the brain’s resident immune cells, prune neural connections in response to signals from the classical complement pathway, a branch of the immune system.

Dr. Lipton's reserach centers on the molecular and cellular interfaces between circadian rhythms and neurodevelopmental and neurodegenerative disorders

I first became interested in IDD back in high school, when I took my first trip to Romania to volunteer in an orphanage.  Many of the children I met there showed quite atypical development, along with physical features like short stature and abnormal motor activity. I wondered how changes in the environment, like lack of expected attachment to adults and play, could lead to such tangible changes in the body and brain.

Promising Gene Therapy Pathways for Combating Central Nervous System Diseases. Dr. Zhigang He, Professor of Neurology and Ophthalmology, Harvard Medical School, discusses how developing efficient BBB-penetrating recombinant AAV vectors shows great promise for enabling gene therapy for treating Central Nervous System (CNS) diseases including those relating to intellectual and developmental disabilities.

Boston Children’s Hospital together with Washington University and the University of North Carolina, are launching the new IDDRC-CTSA Brain Gene Registry. The registry will harness the power of genomic data acquired during clinical care to better understand the relationship between rare gene variants and neurodevelopment, an essential step as we move towards understanding mechanisms and developing therapies for intellectual disability and autism.

Dr. Fagiolini receives a LouLou Foundation CDKL5 Pilot Grant award for her research project: “ASO therapy in CDKL5 deficiency disorder”

The Rosamund Stone Zander Translational Neuroscience Center at Boston Children's Hospital will transform the field as the first of its kind pediatric-focused translational neuroscience center.