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.
Dr. Schwartz also has a long-standing interest in birth defects research, having identified several genes and chromosomal abnormalities that are responsible
“Charles was and remains dedicated to the global mission of GGC,” said Mike Friez, PhD, Director of GGC’s Diagnostic Laboratories. “By working collaboratively
and leveraging the resources of the Center for the betterment of those faced with a genetic disability he has helped to create a higher standard of
patient care that GGC proudly carries forward.”
In addition to his work ethic and expertise in these areas, Schwartz has a true understanding of the importance of his work on a personal level. He is
involved with numerous family support organizations and foundations, and regularly attends their meetings not only to share research advances and answer
questions, but also to spend time learning from the families that his work is impacting.
His work has been recognized with awards from the American Association on Intellectual and Developmental Disabilities (2002) and its SC chapter (2003).
In 2015 he was honored by the Snyder-Robinson Syndrome (SRS) Foundation
for his pioneering research and
commitment to studying this rare disease.
“Dr. Schwartz has been with the entire SRS community every step of the way,” said Michael Raymond, father of a son with SRS and Executive Director of the
SRS Foundation. “He’s helped unlock many of the mysteries surrounding this confounding disease, and helped to coalesce a larger SRS research community.
We’re confident that his work will help lead to a safe and effective treatment for SRS. He has been incredibly kind, thoughtful, and compassionate
in his many interactions with all of our SRS families who struggle daily with this disease.”
Schwartz is a true advocate for patients, and has been often quoted as saying, “We study rare diseases that most have never heard of, but if you have a
child with a rare disease, it’s not rare to you, it’s 100%.”
GGC’s Boo Ramage shared, “No matter how rare the condition, Charles could not – and would not – shake his desire to help even that one family whose need
was brought before him.”
“Charles and I have worked together for almost twenty years now,” said friend and collaborator, Giovanni Neri, MD, a GGC Senior Scholar and emeritus professor
at Catholic University in Rome. “I have had the privilege to be witness to the monumental contributions made by Charles to the knowledge of X-linked
disorders. I am highly impressed not only by the scientific quality of his work, but also by the empathy he established with patients who were the
object of his research, even those he never met in person.”
“Dr. Schwartz has been and always will be for me an extraordinary mentor and model,” said Luigi Boccuto, MD, GGC Assistant Research Scientist. “He represents
the embodiment of the scientific method: always pursuing rigor and precision, always providing constructive criticism, always giving brilliant inputs.
I have had the most enjoyable and stimulating conversations with him, on both scientific and non-scientific topics, and I feel honored to have had
the opportunity to work with him.”