The BRI Congratulates
Stephen Young, MD
Elected to the National Academy of Sciences
Dr. Young, Distinguished Professor of Medicine and Human Genetics at the David Geffen School of Medicine, UCLA, is a renowned cardiologist and molecular geneticist. His work has enlightened our understanding of the mechanisms for human diseases in the context of plasma triglyceride metabolism and the role of nuclear envelope proteins.
Membership in the National Academy of Sciences is considered one of the highest honors that can be bestowed on a scientist, and is a clear recognition of Dr. Young's distinguished and continuing achievements in original research.
Muscle biopsy from a man with inclusion body myositis and a secondary mitochondrial myopathy. NADH-stained sections show variability of myofiber size and hyperstained fibers. Electron micrographs show paracrystalline intramitochondrial inclusions that are characteristic of a mitochondrial myopathy.
Project Advisor: Mrs. Mariam Rangoonwala School: Institute of Knowledge, Diamond Bar, Los Angeles County
More information on BRI outreach activities at State and County Science Fairs here.
Introducing the BRI's New Member
STEPHANIE SEIDLITS, PhD, ASSISTANT PROFESSOR, BIOENGINEERING "Engineering the neural microenvironment"
Stephanie Seidlits is a bioengineer researching at the intersection of engineering, neuroscience and medicine. She uses biomaterial microenvironments and advanced imaging tools to develop clinical therapies for disorders including spinal cord injury, traumatic brain injury and glioma formation. The long-term goal of this research is to translate biomaterial microenvironments intoin vivo regenerative therapies, which do not exist at present.
Seidlits’ recent article in Biomarkers Insightsreviews of the current state of development of effective gene therapies in the spinal cord and discusses the potential of biomaterials to mediate gene delivery while providing inductive scaffolding to facilitate tissue regeneration.
Image: Transverse section of mouse spinal cord with a biomaterial substrate implanted at a dorsal injury site (4 weeks post-injury, neurofilament-200, immunofluorescence shown in red). Courtesy of Stephanie Seidlits.
More information about the Seidlits lab can be found here.
In the News
Untapped region in brain cell offers goldmine of drug targets for new autism treatments Discovery could shed light on how genetic mutations lead to the disease
BRI members key in discovery that an overlooked region in brain cells houses a motherlode of mutated genes previously tied to autism. Recently published in Neuron, the finding could provide fresh drug targets and lead to new therapies for the disorder, which affects one in 68 children in the United States.
“Our discovery will shed new light on how genetic mutations lead to autism,” said principal investigator Dr. Kelsey Martin, interim dean and a professor of biological chemistry at the David Geffen School of Medicine at UCLA. “Before we can develop an effective therapy to target a gene, we must first understand how the gene operates in the cell.”
The UCLA team focused on a gene called Rbfox1, which regulates how the cell makes proteins — the molecular workhorses that perform essential tasks in cells. Proteins also help shape the body’s tissues and organs, like the brain.
“Identifying a gene’s function is critical for molecular medicine,” said coauthor Daniel Geschwind, the Gordon and Virginia MacDonald Distinguished Professor of Human Genetics and a professor of neurology and psychiatry at UCLA. “My colleagues discovered that Rbfox1 has an entirely new function that other scientists had overlooked.”