Dr. Gerarda Cappuccio, a physician-scientist at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital, has been selected to receive the 2022 postdoctoral fellowship award from Autism Speaks to test gene therapy for a rare disorder, MeCP2 Duplication Syndrome, a condition related to the over-expression of a gene MeCP2 linked to autism.
A pediatrician, Dr. Cappuccio is currently pursuing a postdoctoral fellowship in the laboratory of Dr. Mirjana Maletic-Savatic, associate professor at Baylor and Duncan NRI investigator, and is co-mentored by Dr. Huda Zoghbi, distinguished service professor at Baylor and director of the Duncan NRI. She is one of the three postdoctoral fellows selected for this fellowship in 2022.
The proposal for which she won this fellowship is titled “Patient-derived models and targeted therapies for autism-related dose-sensitive genes” and aims to test the effects of antisense oligonucleotide gene therapy on the molecular, cellular, and brain network properties in patients with MeCP2 Duplication Syndrome using patient-specific brain organoids. Her hypothesis is that duplication of MeCP2 affects neuronal metabolism and furthermore, changes in cell energetics and lipids play an important role in modulating neuronal function. This innovative hypothesis, if proven, will highly impact how neuroscientists’ view the mechanisms of neuronal function and underscore the importance of metabolism for proper synaptic development, maturation, and signaling. In addition, she plans to test individualized therapeutic interventions in patient-specific brain organoids which can hopefully be translated into therapies, an urgent priority for autism researchers.
Three decades ago, autism was a little-known, uncommon disorder. It is now recognized as a group of syndromes denoted as Autism Spectrum Disorder (ASD). Today, with better diagnostic methods, new cases are being identified at an alarming pace, and autism is emerging as a national health emergency. The most recent Centers for Disease Control and Prevention (CDC) prevalence estimates of ASD are 23 per 1,000 (1 in 44) compared to 0.04 per 1,000 in 1988. This 575-fold increase over 35 years brings forward a tremendous urgency for the scientific community to accelerate early diagnosis and find precise, effective treatments.
“This is a prestigious fellowship and is awarded only to a handful of applicants each year”, said Dr. Mirjana Maletic-Savatic. “Gerarda is a well-deserving candidate for this award and I am very happy she was chosen for it. The strategies she is proposing will provide a template to advance the use of DNA-based therapy for the treatment of ASD, and could lead to unanticipated benefits for other monogenic disorders and others.”
Autism Speaks is a non-profit organization founded in 2005 by Bob and Suzanne Wright, grandparents of a child with autism, and is dedicated to promoting solutions, across the spectrum and throughout the life span, for the needs of individuals with autism and their families through advocacy and support; increasing understanding and acceptance of autism spectrum disorder; and advancing research into causes and better interventions for autism spectrum disorder and related conditions.