When Dorothy Zirkle was seeking care, resources and answers for her profoundly intellectually disabled son she received little. His diagnosis was undetermined. Genetic testing did not provide clarity. Even her training as a nurse wasn't enough to keep up with Matthew's exceptional needs. Matthew started having seizures at 3 months, never sat, crawled, held a bottle, fed himself, and importantly, could not communicate in any decipherable manner. But he showed his appreciation and love through his kind eyes. Read about this parent, nurse, and PhD candidate's extraordinary journey as well and her resolve to lend a voice to parents who are navigating care for their children with special needs.

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.

Infantile Spasms (IS) is a unique early-life epilepsy with heterogenous etiologies, few treatment options, and significant developmental consequences. Boston Children’s Hospital through the IS Program and other research groups have been at the forefront of the outstanding clinical care and research productivity related to IS. This October 11th various groups at Boston Children's Hospital will come together for a symposium to explore the prospects of coordinating our collective efforts more closely to improve outcomes of babies with infantile spasms.

How do relatively so few genes control the development of the highly complex nervous system and ensure its healthy diverse functions, and which genes are drivers of neurological/psychiatric disease or disease risk? Dr. Clifford Woolf discusses how state-of-the-art gene-editing and gene-manipulation technology helps our understanding of pain, the formation of neural circuits during development, and the failure of regeneration of the adult CNS.

While children with Down syndrome have broad developmental delays and quite often have difficulty with challenging behaviors, there are no standardized behavioral strategies or therapies to treat them. Without a well-researched therapeutic standard, there is great variability in the quality of the services offered and a lack of evidence that can be drawn on by advocates for improved health care services. Dr. Nicole Baumer is currently pioneering the JASPER Clinical Trial research program in Down syndrome. The main objective is to determine whether an intensive, targeted early behavioral therapy intervention can improve developmental trajectories in Down syndrome.

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.

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.

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.