Current Research

Current Research

Movement Disorders

Donald Gilbert and his team study patients with tics, Tourette syndrome, dystonia, chorea, tremor, ataxia, and psychogenic movement disorders. Research into physiological and genomic markers of disease and medication responses has resulted in a number of publications. He studies cortical neurophysiology in ADHD and associate disorders in collaboration with the Division of Human Genetics. Gilbert works on a project to identify a gene for a novel form of spastic paraplegia and dystonia.

Gilbert joined the Tourette Syndrome Association Medical Advisory Board, and he is a national speaker and educator for Tourette syndrome on a grant received from the Centers for Disease Control.

Epilepsy Program

The Epilepsy Program includes New Onset Seizure Clinics and Intractable Epilepsy Clinics. The advanced care includes the opportunity for patients to have epilepsy surgery, try ketogenic diet or to participate in an investigational anti-epileptic medication trial.

A major focus of the clinical research activities is the investigation of the role of drug-gene interactions on the individual variation in anti-epileptic drug clinical response. Research is under way examining both the role that genetic variation in drug metabolizing enzymes, drug transporters and drug receptors play in clinical response and the impact of medication on gene expression and the resulting relationship between gene expression and drug response. The NIH UO1 grant is a 24-center trial based out of Cincinnati Children’s Hospital Medical Center and is the largest pediatric epilepsy trial ever funded in the United States. The trial is a double blind, randomized, comparison trial of three commonly used anti-epileptic medications focused on identifying the optimal initial therapy for children with childhood absence epilepsy. The study is  designed to better identify the pharmacokinetic, pharmadynamic and pharmacogenetic factors that impact  response to therapy.

The Divisions of Neurology and Genetics combined with the Pediatric Pharmacology Research Unit to launch a genetic pharmacology service (GPS) at Cincinnati Children’s. The  intent is to make it possible for physicians to prescribe medications in a way that assures that each patient has the optimal response. The GPS rapidly identifies drug metabolizing enzyme polymorphisms, interprets these DME genetic variations in a clinically useful way, identifies relevant drug interactions and educates clinicians on how to incorporate this information to their practice.

Neuroimaging Studies

The Division of Neurology has a long-standing interest in fMRI studies of language localization in normal children as well as children with neurological conditions in collaboration with the Imaging Research Center.

Mark Schapiro, MD, is using fMRI to study language activation patterns in patients with Down syndrome, testing the  hypothesis that over expression of chromosome 21 genes will alter language neural networks and contribute to the unique linguistic deficit characterizing persons with Down syndrome.

Anna Byars, PhD, continues her studies on language activation in patients who have suffered a stroke.

Tuberous Sclerosis Program

This multispecialty program follows hundreds of patients with tuberous sclerosis but also patients with related disorders such as lymphangioleiomyomatosis (LAM). Patients who come to this program are seen by specialists from neurology, nephrology, pulmonary medicine, human genetics, cardiology, psychiatry and others. Patients are offered specific neurosurgical interventions to control seizures and other complications from their condition such as vagus nerve stimulators, focal cortical resections and hemispherectomies with overall excellent results. Clinical trials are ongoing with medications to study the response of angiolipomas. Trials for studying these medications for the astrocytomas in epilepsy and tuberous sclerosis are under development.

Headache Center

Research in the Headache Center continues with emphasis on clinical trials and outcome studies. The blood genomic study on pediatric migraine is ongoing. Andrew Hershey, MD, PhD, is chairman of the Pediatric and Adolescent Section of the American Headache Society, a member of the Education Committee for the American Headache Society as well as a member of the Pediatric Section of the International Headache Society. Both he and Marielle Samaha are involved with educational activities at the local, regional, national and international level.

Basic and Disease-Oriented Research

Basic and disease-oriented research labs in the Division of Neurology use human tissue samples, patient-derived cells and rodent disease models to study diverse aspects of neurological and neuro-muscular diseases and develop therapeutic approaches. The Skelton Lab studies the mechanisms underlying creatine metabolism in order to develop and advance treatments for Creatine Transporter Deficiency. Dr. Vorhees and Dr. Williams use animal models to investigate brain development and behavior on: (1) Pde1b and depression, (2) Lphn3 and ADHD, (3) prenatal antidepressants, (4) manganese, and (5) pyrethroid insecticides, and (6) methamphetamine neurotoxicity. Dr. Timchenko’s lab investigates the molecular mechanisms of neuro- and neuro-muscular degenerative diseases such as congenital and adult Myotonic Dystrophy type 1, Myotonic Dystrophy type 2 and Fragile X associated tremor/ataxia syndrome and develops therapeutic approaches for the treatment of these diseases. The Gross Lab analyzes molecular mechanisms underlying epilepsy and autism spectrum disorders, including Fragile X syndrome, that could be used to develop novel therapies. For more information see Faculty Labs.