Division of Molecular Genetics
The Molecular Genetics program is dedicated to understanding the molecular causes and risk factors for targeted pediatric orthopedic disorders.
Meet Our Team
Areas of Investigation
Genetics of Scoliosis
We are currently applying large-scale methods that integrate clinical and genetic data to identify the molecular mechanisms behind scoliosis, the most common spinal deformity in children. Our current study is funded primarily by the National Institutes of Health and will involve more than 3,000 individuals with scoliosis and their families. This is a collaborative effort with other U.S. pediatric orthopaedic surgeons.
Genetics of Clubfoot
Clubfoot is a common foot deformity in children, and we are currently using large-scale population association studies to identify genetic risk factors associated with clubfoot. Our study includes collaborators at Washington University in St. Louis, the UT Health Science Center at Houston and the University of Otago in New Zealand.
Genomics Of Orthopedic Disease
The G.O.O.D. for Kids Program
The GOOD for Kids program uses state-of-the-art research methods to discover genetic causes of pediatric musculoskeletal disorders through close collaboration between the Division of Molecular Genetics and TSRHC physicians. The GOOD for Kids program includes several orthopaedic conditions seen in patients treated by TSRHC physicians and by collaborators world-wide.
Macrodactyly and other PROS
In collaboration with members of the TSRHC Charles E. Seay Jr. Hand Center, we identified the first genetic cause of Type 1 Macrodactyly Jonathan Rios of the Division of Molecular Genetics and Dr. Marybeth Ezaki of the Hand Center recently met with other researchers and clinicians at the National Institutes of Health to develop diagnostic criteria for PIK3CA-Related Overgrowth Syndromes (PROS), including macrodactyly, muscle hemihypertrophy and CLOVES.
Infantile Idiopathic Scoliosis
Scoliosis that occurs before age three can be a serious condition. In collaboration with TSRHC orthopedic surgeons we are researching the causes of infantile idiopathic scoliosis, a poorly understood form of the disorder, using next generation genomic methods.
Disorders of Long Bone Growth and Development
We are working to define the genetic and molecular mechanisms of bone growth and fracture healing, in order to improve bone quality and healing after fracture. The goal of this study is to identify new therapies to improve fracture healing and to improve bone quality in patients with progressive bone weakening.
Improving Genetic Diagnosis for Neurologic Disorders
With the Neurology Department at TSRHC, we are using the latest technologies to identify genes associated with rare pediatric neuromuscular conditions. We are also investigating how best to use these advanced technologies in the clinic to improve our ability to provide diagnoses to patients through genetic testing.
Primordial dwarfism (PD) describes patients that are the so-called “smallest people in the world”. In collaboration with the skeletal dysplasia program at the Nemours/Alfred I. DuPont Hospital for Children and the Potentials Foundation, we have developed a national repository of samples for PD. These samples are used to solve the genetic basis of the various forms of PD and to study correlations between genetics and the clinical presentations of these diseases.
You Can Help!
Enrollment is ongoing for TSRHC's genetic studies. You may be eligible to participate if you…
are a TSRHC patient,
have BEEN a TSRHC patient, or
are interested in serving as a healthy control.