The Foundation

 

Our mission

 

Lightning and Love Foundation is a Non-Profit Organization with the vision to raise awareness, advance scientific research through fundraising and advocacy, and find a cure for diseases caused from a mutation in the THAP12 gene ultimately transforming the lives of those affected. 

Our goals

1. Verify THAP12 gene is the cause of disease through Zebrafish, Mouse and Cell Modeling

2. Understand the gene's function enough to explore possible drug repurposing

3. Develop gene therapy as long term treatment

The Disease

What is thap12

There is very little known about the THAP12 gene. In fact we are still trying to prove this gene is the cause of disease. 

This gene appears to cause disease through Autosomal Recessive inheritance of variants, meaning both parents must pass down non-working copies for their children to be affected.

There are only two known cases in the world of THAP12 likely causing disease...

Emma and Abby

clinical presentations

This disease presents primarily as intractable epilepsy starting with Infantile Spasms before 3 months of age and progressing to more diverse seizure types.

Another distinct symptom is severe Hypotonia with known patients unable to gain head control, core control, or weight bearing through limbs. 

Additional global developmental delays are seen as feeding difficulties including g-tube dependence, cortical visual impairment, and lack of motor planning preventing purposeful use of limbs

available treatments

There are currently NO available treatments for this disease.

Anti-Epileptic drugs are used to reduce seizures intensity and frequency. 

We are searching for possible drugs to re-purpose for temporary treatment, and a long term gene therapy as a permanent solution.

 

The TEAM

Eric is a post-doctoral fellow at the Research Center of the University of Montréal Hospital. He has experience in modeling epilepsy and other neurological disorders in Zebrafish and is currently working on a THAP12 ZebraFish Model for the research efforts of the Lightning and Love foundation.

Mariah Gillaspie, Founder/Executive Director

Mariah is the mom to Emma and Abby, and is the creator of the Lightning and Love Foundation. She is a software engineer by trade but a rare disease advocate by passion. Along with the foundation, Mariah sits on the Colorado Developmental Disability Council, participates as an Ambassador in the Mountain States Regional Genetic Network, and as an Ambassador for the Lennox-Gaustaut Foundation. 

James Doyle, PhD

James is using his experience modeling rare disease in small animals to act as a scientific consultant for the Lightning and Love Foundation. 

 

Undiagnosed Diseases Network, Stanford

Emma and Abby are Patients of the Undiagnosed Diseases Network Stanford Location. The UDN is an NIH funded program aiming to provide research for patients still on their diagnostic odyssey. The UDN is currently running RNA Sequencing for THAP12 mutations in Emma and Abby. 

Rare Genomes Project, 

Broad Institute of MIT and Harvard

Emma and Abby are patients of the Rare Genome Project, one of the two institutions to run Whole Genome Sequencing and note THAP12 as highly suspicious. The project continues to follow Emma and Abby and provide consultation, connections, and research assistance as it fits into their program.

International Mouse Phenotyping Consortium, Jackson Labs

The International Mouse Phenotyping Consortium is an international effort to identify the function of every protein-coding gene in the mouse genome. THAP12 was accepted into this program in February of 2020 and founder mice were born July 2020. 

Contact​​

        +1 (210) 884-3950​​

          mariah@lightningandlove.org

     

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Lightning and Love Foundation is a registered nonprofit under Internal Revenue Service Section 501(c)(3) - EIN 84-4975331