Charles E. Schwartz, a native of New York City, has dedicated his professional career to the diagnosis, understanding, and treatment of individuals with
intellectual disability. He was recruited to GGC in 1985 from the University of Utah to start a molecular diagnostic laboratory, bringing a new level
of technology to bear for families with intellectual disability and rare genetic disorders – families who had been struggling for answers, often for
many years. Following the successful implementation of the molecular laboratory, Schwartz turned his focus to research in 1995, and was named Director
of Research at GGC in 2004.
Through his experience, expertise, and commitment to serving patients and their families, he has built GGC’s JC Self Research Institute for Human Genetics
into a world class, internationally renowned research center with a focus on intellectual disability, birth defects, and autism. He was the first to
attract NIH grants to GGC with over $12 million dollars in research funding over 25 years. He has contributed broadly to the literature, authoring
13 books/book chapters, and over 350 scientific publications. His influence in the field of medical genetics is immense.
Schwartz is recognized internationally as a leader in understanding X-linked intellectual disability (XLID). Schwartz
and his research lab in Greenwood have been involved in the identification of nearly 1/3 of the XLID genes, providing answers for families, helping
to prevent recurrences of these disabilities, and moving the paths of treatments forward.
Schwartz’s work has led to the launch of many clinical genetic tests that have provided countless patients with a diagnosis – a diagnosis that, because
of the rarity of these syndromes had been difficult, if not impossible, to obtain prior to his discoveries. Most notably, he adapted the technique
used to discover the gene for Fragile X syndrome, and GGC was the first lab in the US to offer clinical testing for this most common X-linked cause
of intellectual disability.
His work in this field has led to the identification of the cause for many rare genetic syndromes including Renpenning syndrome, Snyder-Robinson syndrome,
Christianson syndrome, Miles-Carpenter syndrome, and Allan-Herndon-Dudley syndrome.
“The tireless efforts of Dr. Charles Schwartz not only established GGC as an international hub for X-linked intellectual disabilities but drove the integration
of basic research in genetics into the culture and mission of the Center,” shared Rich Steet, PhD who has assumed the role of Director of Research.
“His influence and leadership in both of these areas will be felt for years to come.”
Dr. Schwartz has also worked to transform the way scientists and clinicians view autism spectrum disorder, a condition that
impacts 1 in 59 children in the US. Since 1995, through the SC Autism Project, Schwartz’s scholarship into the genetic causes of autism has led to
the identification of several genes that are associated with ASD. His team’s discoveries into the biochemistry of autism are contributing to the development
of a blood-based test for ASD and are also informing the development of medical treatments and clinical trials.