Prader-Willi Syndrome (PWS) is a rare genetic condition that causes obesity, intellectual disabilities and shortness in height, and is most commonly recognized cause of life-threatening obesity in children. The overall aim of our studies is to not only better understand the condition, but also discover potential treatments that enhance and improve the quality of life for people with PWS and their families.

Current studies

• Natural history and clinical delineation studies of alcoholism, addiction (e.g., cocaine), schizophrenia, Prader-Willi syndrome and early onset morbid obesity
• Pharmacogenetics
• Epigenetics of alcoholism, obesity, autism and Prader-Willi syndrome and effects of environmental exposures
• Neuroimaging (e.g., fMRI) and startle-response modulation studies in Prader-Willi syndrome compared with lean and obese subjects using food and non-food viewing paradigm during pre-and post-meal evaluation sessions and transcranial direct current stimulation
• Genotype-phenotype correlations in Prader-Willi syndrome
• Clinical trials to treat individuals with intellectual disabilities and mental illness, fragile X and Prader-Willi syndromes and autism

Related resources:

• Prader-Willi Syndrome Association (USA)

Studies in this area explore the management of behavioral disturbances such as aggression and self-injury that are associated with developmental disability and comorbid psychiatric illness. We also have studies aimed at identifying DNA variants and mutations of autism.

Current studies

• Next-generation sequencing and diagnosic testing
• High resolution chromosomal microarrays
• Coding and non-coding RNA expression patterns and transcriptome changes in alcoholics, obesity-related syndromes and autism and use of brain and lymphoblastoid cell lines
• Pharmacogenetics
• Medication management

This well-established research program explores a variety of aspects of alcoholism, such as identifying risk factors for developing the condition and potential genetic influences on alcoholism vulnerability.

List of studies

• Danish Longitudinal Study on Alcoholism. This long-running international collaborative study of risk factors related to alcoholism uses a large Danish birth cohort (born between 1959 and 1961) and a database containing extensive, detailed information relating to the pregnancy and birth of 9,125 Danish subjects, including specific information on their physical condition at birth, Day 5 and age 1. The Danish Central Psychiatric Register, a national register of all psychiatric diagnosis and admissions, is the source of psychiatric outcomes for the now adult study subjects.
• The Effectiveness of Benfotiamine in Reducing Abusive Drinking among Family History Positive and Negative Alcoholics.This randomized, double-blind, placebo-controlled clinical trial of oral benfotiamine tests the effects of a high-dose thiamine replacement on drinking outcomes in chronic, severe alcoholic drinkers. Benfotiamine is a chemical that is similar to thiamine and when it’s taken by mouth, the body changes it into thiamine. The goal of this study is to determine if there are improvements in neurocognitive outcomes linked with restoring thiamine blood levels in people with alcoholism that will support behavioral regulation, reduce alcohol cravings and improve functional outcomes.
• Acoustic Startle Eyeblink Plasticity in studies in Alcoholism.This study uses using electromyography (EMG) recordings of long-lead interval startle eyeblink modification in response to emotional and alcohol-related cues to examine early emotional responses to these cues in alcohol dependent individuals. Part of a double-blinded placebo-controlled clinical trial, the goal of this project is to identify potential biobehavioral markers of alcohol dependence risk, severity and response to benfotiamine, a chemical the body changes into thiamine when taken by mouth. Restoring thiamine levels in the blood is thought to help improve behavior regulation and reduce alcohol cravings. This project is a component of a broader project investigating the effectiveness of benofotiamine reducing abusive drinking among family history positive and negative individuals with alcohol dependence.

List of studies

• Methamphetamine Dependence. Focused on psychopharmacologic, or medication, treatments for methamphetamine dependence, this series of studies involves randomized, double-blind, placebo-controlled evaluations of medications to reduce craving. The studies are conducted in the setting of manualized psychosocial treatment modeled on the MATRIX program, which is an evidence-based approach to helping people with substance abuse issues abstain from drug use. The treatment program is free to volunteers enrolled in the studies that take place at the START program. These studies are part of the Methamphetamine Clinical Trials Group funded by the National Institute on Drug Abuse and coordinated through the Institute for Substance Abuse Treatment at UCLA.

Contact: START at 816-668-9504

• Cocaine abuse and treatments. Research in this area focuses on the characteristics of cocaine abuse and treatment efforts with an aim of enhancing the effectiveness of addiction treatment programs and initiatives.

With ongoing technological advances, it’s becoming easier to extend access to mental and behavioral health care to more people than ever. After long being on the leading edge of using technology to provide psychiatric care and services to a variety of populations, including underserved and rural communities, we continue to research the efficacy, features and potential of this mode of care.

Studies around pain and pain management include looking at alternative delivery methods for pain medications to examining the differences in brain imaging between people managing chronic pain and individuals with substance abuse. 

• Psychiatric Co-Morbidities. This study examines combinations of psychiatric illnesses in individuals and in families.
• Sensorimotor Gating in Attention-Deficit Hyperactivity Disorder. As part of this study, researchers are using electromyography (EMG) recordings of short-lead interval startle eyeblink modification to assess automatic and attention-modulated prepulse inhibition (PPI) of the acoustic startle response in children and adolescents diagnosed with Attention-Deficit Hyperactivity Disorder (ADHD). The goal of the project is to gain a greater understanding of ADHD and potential assessment strategies by exploring the role of bottom-up and top-down inhibitory and attention systems in people with the disorder.
• A Transition Clinic for Adolescents and Young Adults with Diabetes Mellitus.An interdisciplinary team of researchers and diabetes management specialists is helping to measure and positively impact the psychological and behavioral sequelae of diabetes in adolescents and young adults. This project is aimed at reducing negative psychological issues that are barriers to effective care and independent management of diabetes among individuals transitioning from adolescence to adulthood.
• Diagnosis Specific Therapeutic Modalities. This study tests a novel protocol for matching therapeutic interventions to specific scientific diagnoses. The goal of the research is to maximize chosen interventions by targeting treatment strategies empirically shown to be the best approaches.
• Probing the genes for hyperphagia in rare-obesity related disorders, genomic imprinting, epigenetics, DNA methylation, and nutrient-gene interaction
• Structural (DNA) and functional (coding and non-coding RNAs) studies in heart disease, alcoholics and rare disorders
• Bioinflammatory cytokine markers in autism, next generation sequencing and chromosomal microarray technology to further delineate rare genetic disorders with integration of genetic and clinical outcome databases
• Development of pluripotent stem cells from established cell lines in individuals with obesity-related disorders.