Our research consultation study is designed to support individuals and families affected by rare genetic disorders. Each case is assigned to a dedicated case analyst, who works closely with our team to provide a comprehensive and personalized genetic variant review.
The process begins with an in-depth analysis of the participant's genetic report, focusing on the relevant gene, variant, and/or disorder of interest. Our team conducts a thorough literature review, examining published research, known disease mechanisms, and potential clinical implications of the genetic variant(s). In addition, we identify any patient foundations, ongoing research studies and clinical trials related to the disorder.
Based on this information, we develop a hypothesis regarding the potential impact of the genetic variant as it relates to the disorder. This hypothesis guides further research into possible treatment strategies tailored to the participant’s unique genetic profile.
To enhance our approach, we leverage AI-powered research tools to identify innovative treatment options, including drug repurposing opportunities and research avenues that might otherwise be overlooked. These tools allow us to sift through vast data sets and identify promising compounds or therapies that could be further tested in preclinical models.
If you are interested in joining our research consultation study or would like to collaborate on an AI-driven drug repurposing list, please email pmianalysts@uab.edu.
Partners
CHAMP1 Foundation
PMI is actively involved as part of the scientific advisory board for the CHAMP1 Foundation.
CMT4B3 Research Foundation
The CMT4B3 Research Foundation funds treatment research for those affected by CMT4B3 and related neuromuscular diseases. PMI participates in CMT4B3 research roundtables, running targets through the AI-drug repurposing pipeline.
Hope for Harvey Foundation
The Hope for Harvey Foundation aims to further research and create translational medicine and treatment options that create a better quality of life for DLG4 patients. PMI is actively involved as part of the Hope for Harvey Foundation research team.
ZTTK SON-Shine Foundation
The ZTTK SON-Shine Foundation is committed to improving the lives of individuals with ZTTK by accelerating research to develop accessible and effective treatments and, ultimately, a cure. PMI is actively collaborating with UAB colleague Dr. Erin Ahn, who is the head of the scientific advisory board.
Cure GABA-A
Cure GABA-A aims to provide individuals living with GABA-A Variants access to personalized treatments. PMI participates in Cure GABA-A research roundtables, running targets through the AI-drug repurposing pipeline.
YWHAG Research Foundation
The YWHAG Foundation provides resources and support for families as well as organizations who are working towards a cure. PMI continues to support the foundation by providing research contacts and advice.
PTEN Foundation
The PTEN Hamartoma Tumor Syndrome Foundation was founded to find treatments or therapies for PTEN Syndromes. Dr. Might provides the board of directors guidance regarding therapeutics identification.
CureADSLd
CureADSLd researches gene therapy for children affected with adenylosuccinate lyase (ADSL) deficiency. PMI is running targets through the AI-drug repurposing pipeline.
SLC6A1 Connect
SLC6A1 Connect is a patient organization dedicated to rapidly advancing research and finding cures for rare diseases, with the ultimate goal of making their organization unnecessary within five years. Dr. Crowder receives funding from SLC6A1 Connect for her zebrafish work.
Wolverine Foundation
The Wolverine Foundation supports various charitable, scientific, and educational initiatives. Recently, it has focused on developing treatments for the newly discovered MAPK8IP3 genetic mutation by advancing research and discovering novel therapeutic approaches. PMI is actively involved as part of the Wolverine Foundation research team.
Bubble Connections (ZC4H2)
Bubble Connection is an organization dedicated to raising awareness and improving the quality of life for people living with a ZC4H2 gene mutation, while also funding research to find a cure. Dr. Crowder receives funding from the Bubble Connection for her zebrafish work.
IRF2BPL Research Consortium
IRF2BPL Research Consortium is dedicated to raising awareness and funding research for a cure for children with IRF2BPL. Dr. Crowder is collaborating with the foundation and trying to identify funding for drug screening.