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    What is CDKL5 Deficiency?

    CDKL5 Deficiency is a rare disease that occurs primarily in females, and results in recurrent seizures that begin in infancy as well as a variety of severe developmental problems. The disease is caused by mutations in a gene called CDKL5, which makes a protein that is required for normal brain development and function. The CDKL5 gene is located on the X chromosome.

 

Research Strategies

 

Reactivation of the X-Linked CDKL5 Gene as a Potential Treatment for CDKL5 Deficiency

Females with CDKL5 Deficiency still retain a normal, functional copy of the CDKL5 gene that is, in some cells, turned off. One potential strategy for treating CDKL5 Deficiency is to switch back on the normal copy of the CDKL5 gene. Dr. Green’s lab is using functional genomics and proteomics-based approaches to identify new and effective therapeutic targets and treatments that function by turning on CDKL5, and evaluate their suitability as targets for the development of a new class of drugs to treat the disease.

 

CDKL5

CDKL5 Disorder Investigator

Michael Green

Michael Green, MD, PhD

Chair and professor of molecular, cell & cancer biology, Lambi and Sarah Adams Chair of Genetic Research, Co-director of the Li Weibo Rare Diseases Research Institute, Vice Provost for Strategic Research Initiatives

Green Lab

Clinical Trials

At the Li Weibo Institute for Rare Diseases Research, our researchers and clinicians are dedicated to finding new treatment options for patients. Our clinical trials program is another way we continue to advance treatments and make new discoveries. If you or someone you know may be interested in a clinical trial, please subscribe for updates and you will be notified when we open up a new trial.

A Potential Therapeutic Approach to CDKL5 Deficiency and Rett Syndrome

By Michael R. Green, MD, PhD

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Several years ago, we began investigating the mechanism by which genes are turned off on the X chromosome — a process termed X chromosome inactivation (XCI). In females, XCI is a naturally occurring phenomenon in which one of the X chromosomes is randomly turned off, or silenced, as a way to equalize the dosage of the X chromosome between females (who have two X chromosomes) and males (who have one).

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Optimizing Genome Editing Technologies for Therapeutic Application

By Scot A. Wolfe, PhD

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The research in my laboratory is focused on improving genome editing technologies so that they can be applied to the development of therapeutics. Inspired by the opportunity to improve the lives of patients with debilitating disorders, my lifelong goal as a scientist is to translate genome editing technologies to the development of therapeutics for a variety of diseases, both common and rare.

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