TGen’s Center for Rare Childhood Disorders (C4RCD) is committed to developing, refining, and applying the latest tools of genomic medicine to help diagnosis and direct treatment of children with rare disorders. An estimated 7,000 rare diseases affect over 25 million Americans. The uncertainty surrounding the diagnosis of patients with rare disease slows their doctors from outlining successful treatment strategies and often leads to lifelong, expensive, and painful odysseys to identify the underlying cause of the disorder. To address this challenge, TGen’s Center for Rare Childhood Disorders (C4RCD) was created with the goal of using advances in genomic testing to identify the factors that cause rare disorders in children, which comprises approximately half of all rare disease patients.
Beyond providing genomic testing for patients enrolled in our study, we are investigating the following disorders:
Epilepsy is the fourth most common neurological disease, affecting 3.4 million people in the US. Epileptic encephalopathy (EE) is a class of severe and rare epilepsies characterized by childhood onset, progressive cognitive decline, and poor clinical outcomes. EE patients typically do not respond to standard therapies, so there is a strong need for new treatments. We have assembled a cohort of EE patients who have mutations of the DNM1 gene. We are studying patient-derived cell lines to understand the complications of DNM1 mutations, and we have also developed a zebrafish model of DNM1 mutations to screen different drugs to help children with epileptic encephalopathy.
There are a few thousand genetic disorders that fall into this category of primary mitochondrial disorders. Most are caused by mutations in nuclear genes, and a minority are caused by mutations in mitochondrial DNA (mtDNA).
There are many more genetic disorders where mitochondrial dysfunction is secondary to the primary gene defect. We are working to provide
accurate genetic diagnoses, to develop better understanding the biology of the disorder by creating cellular and animal models; and ultimately to develop specific treatments.
Children with Crisponi Syndrome have difficulties regulating body temperature and have feeding and breathing problems. We have created a mouse model of CRLF1 mutations to study Crisponi Syndrome.
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