Disease Gene Discovery

Through an innovative collaboration with Regeneron Genetics Center, we are able to use the most advanced genomic tools to identify new genetic conditions. We integrate these state-of-the-art molecular methods into our clinical practice, improving our diagnostic efficiency and personalizing treatment for the families we serve. Our streamlined process has enabled the Clinic to accelerate its gene discovery process at an unprecedented pace, from 5-7 variants a year to over 70 in 2019!  

Affective Disorders

According to the World Health Organization, depression is the leading cause of suffering in the world. Together with collaborators from Regeneron Genetics Center, Columbia University Medical Center, and the University of Maryland, we are working to better understand the genetic contribution to mood disorders such as depression and anxiety. This work in psychiatric genetics will lead to a better understanding of the biochemical changes in the brain that lead to these disorders and identify ways they can be more effectively treated.

Spinal Muscular Atrophy (SMA) Catheter Study

During a collaboration with Nemours/A.I. duPont Hospital for Children, we identified an alternative method to deliver nusinersen to patients with spinal muscular atrophy (SMA) using a subcutaneous intrathecal catheter system (SIC) configured by connecting an intrathecal catheter to an implantable infusion port.

Manic-Depressive Illness 

Clinic for Special Children scientists led a study in conjunction with researchers from Columbia University, University of Pennsylvania, and Franklin & Marshall College, to identify the genetic underpinnings of manic-depressive (bipolar) illness in the Pennsylvania Amish. Their work identified a genetic change in the gene KCNH7 associated with an increased susceptibility to major depressive illness. This finding helps researchers better understand the biochemical changes in the brain that can lead to these conditions and identify better therapies to treat them.

Hearing Loss

Over half of newborn hearing loss is genetic in nature, and the Clinic has worked with the audiology team from the Nemours/Alfred I. duPont Hospital for Children to identify genetic causes of hearing loss in the families we serve. This joint effort enabled the discovery of genetic changes in the gene SLITRK6 that lead to hearing loss and nearsighted vision. Identifying this genetic cause enables us to detect affected individuals while they are still very young, so that the interventions to optimize speech and language development can begin, leading to the the best developmental outcomes for these children.

Familial Hypercholesterolemia (FH) 

Familial hypercholesterolemia (FH) is a common genetic condition affection approximately 1 of every 500 individuals. We estimate that up to 12% of Old Order Amish in Lancaster County carry a genetic alteration in the gene APOB that causes persistently high levels of LDL-cholesterol and renders them highly susceptible to coronary artery disease, heart attacks, and early death. We are working to better understand the consequences of this across the lifespan and develop effective clinical strategies to prevent cardiovascular disease in those with FH. Together with Nemours/Alfred I. duPont Hospital for Children, we are using imaging studies and biochemical markers for a detailed natural history of FH in these families and response to medications that can lower cholesterol.

Newborn Pulse-Oximetry

Pulse oximetry is a standard-of-care technique that can detect small changes in blood oxygen, which can indicate serious structural heart defects and illnesses in a newborn, avoiding the potentially catastrophic consequences if left untreated. Newborn pulse-ox is routinely used in hospital nurseries but not always accessible for babies born at home. Dr. Chowdhury, a Pediatric Cardiologist from Cardiology Care for Children, and Dr. Williams are partnering with dozens of midwives in the community to train them to use this technique in their practice and together determine how effectively newborn pulse oximetry identifies heart defects and illnesses in babies born outside the hospital setting.