Current Areas of Study
CEREBRAL PALSY GENOMICS
We are founding members of the International Cerebral Palsy Genomics Consortium (ICPGC).
The ICPGC is a collaborative network setting research priorities, combining datasets and integrating analytic tools worldwide in order to characterize the molecular basis of CP and improve diagnostics and therapeutics.
Lab PI Michael Kruer serves as chair of the ICPGC. Within the United States, our ongoing partnership with other members of the Cerebral Palsy Research Network has allowed us to launch the NIH-funded Genetic basis of CP study, dedicated to understanding the genomic basis of CP.
MECHANISMS OF HEALTH & DISEASE
Although identifying the genetic basis of a disorder represents a major achievement, it is often the first step to understanding the mechanisms involved.
Ongoing studies within the lab include studies of cellular CoA handling, the RHO GTPase pathway, and the integrated stress response.
We use a variety of techniques in order to understand both normal cellular biology and how genetic variants disrupt the trajectory of brain development. These encompass yeast models, mammalian cell lines (including patient-derived cells), Drosophila, and neuronally differentiated iPSCs.
Within our research group, bioinformaticians and computational biologists, physicians, neuroscientists, geneticists, and molecular and cell biologists work side-by-side to answer challenging questions.
RARE PEDIATRIC MOVEMENT DISORDERS RESEARCH
From the patients we see at the Barrow Neurological Institute, Phoenix Children’s Hospital and supported by partnerships with referring physicians and families.
We enroll patients with chorea, dystonia, ataxia, juvenile parkinsonism, and other movement disorders in our studies in order to decipher the fundamental cause of what is often a rare, undiagnosed childhood neurological disease.
TOURETTE SYNDROME GENOMICS
We are a recognized clinical and research Center of Excellence by The Tourette Association of America.
Drawing from our robust Tourette Syndrome Clinic, we are actively enrolling individuals with Tourette Syndrome and related disorders, including attention-deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and anxiety disorders as part of a collaboration with Yale University for genomic analyses of these highly interrelated neuropsychiatric disorders.