The Hugh Kaul Precision Medicine Institute (PMI) works with individuals, families, researchers, patient foundations, and clinicians to use artificial intelligence (AI) to research therapeutic strategies to treat genetic disorders including rare diseases.
We use data science, bioinformatics, artificial intelligence, genomic engineering, lab science and consultation with experts to develop therapeutic strategies to treat genetic disorders including rare diseases, neurodevelopmental disorders, cancer, and diabetes. Our experts have developed a logic-driven computer language, known as mediKanren, to access large data sets (PubMed, UniProt, etc.) in order to utilize information in a relationship-based manner, allowing us to quickly link together drugs to genes, or genes to disease.
Focus Areas
Biomedical Artificial Intelligence
PMI's mediKanren tool rapidly identifies FDA-approved drugs for rare and complex diseases by analyzing vast biomedical data. This has led to breakthroughs like the clinical validation of low-dose ketamine for ADNP-driven autism. PMI also leads ARPA-H initiatives focused on AI-driven data integration, drug repurposing for rare diseases, and secure health care data management, revolutionizing biomedical research and patient care.
Rare Disease Research Consultations
Our research consultation study is designed to support families and individuals affected by a rare genetic disorder. Each case is paired with a dedicated case analyst, who conducts a thorough genetic and literature review, including an analysis of potential treatment strategies based on the predicted impact of genetic variants on the disease mechanism.
Patient-Driven Animal Models
The PMI team uses patient genetic reports to create zebrafish models of rare brain disorders. They use a special gene editing tool called CRISPR-Cas9 to make changes in the zebrafish's genes. The goal is to make zebrafish models that can be used to test different medicines quickly. This helps find treatments that might work for patients and can be tested in clinical trials.
Precision Diabetes Program
PMI is researching diabetes to understand its different forms and how they affect various populations. The goal is to identify specific subtypes of diabetes, like severe insulin-deficient diabetes (SIDD), and understand how factors like race influence these subtypes to develop personalized treatment plans that improve health outcomes for patients with different types of diabetes.
Research in the Classroom
Through Undergraduate Neurosciences Program courses, PMI leadership teaches students how to use special tools to study rare brain disorders by creating zebrafish models. Students learn to edit genes and test medicines to help find treatments for these disorders. This hands-on research gives hope to patients and their families while inspiring students to work hard and make a difference.