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Our Mission

To raise awareness, advance scientific research through fundraising and advocacy, and find a cure for diseases caused from mutations in the THAP12 gene ultimately transforming the lives of those affected; and in turn helping change the landscape and providing knowledge and hope for all people living with ultra-rare diseases.

Mission

Clinical Presentation

This disease presents primarily as intractable epilepsy starting with Infantile Spasms before 3 months of age and progressing to more diverse seizure types under the umbrella of Lennox-Gastaut Syndrome. 

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

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

What is thap12

This gene causes disease through Autosomal Recessive inheritance of partial loss-of-function variants, meaning both parents must each pass down a non-fully functional copy for their children to be affected.

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THAP12 was discovered in 2019 through Whole Genome Sequencing of the first and only two known patients in the world...

Emma and Abby

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While there is next to nothing known about the THAP12 gene, we do know it is a regulator of the Protein Kinase-R Pathway which has been associated with disease.

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The Lightning and Love Foundation is using Cell Models, Animal Models, and cutting edge technologies to better understand THAP12 and move towards a CURE!

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On being n-of-few

Some diseases are so rare that they only affect one, two, maybe three people in the entire world. These "n-of-few" situations alone feel impossibly rare, but collectively they are less so.

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Current approaches to treating disease are inefficient, dedicating time and resources to one genetic condition at a time. With over 7,000 unique rare diseases, that strategy will never even make a dent.

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But things are changing...

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We are learning that while our genes are all different, the kinds of variants affecting them have similarities. If we can fix a variant on one gene, we should be able to fix it on another. We can work towards generic technologies that can be applied to any mono-genetic condition. And with that, we can cure any genetic disease, no matter how rare. 

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We are excited to represent the n-of-few community, and to advocate for no disease left behind!

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Our
Vision

A world without disease, where people don't suffer from conditions that technology is capable of fixing. A world where HOPE is given right along side a diagnosis, and no doctor every has to utter the words, "there is nothing that can be done to help". 

What is THAP12
Shaping The Future - Vison

Board of Directors

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Mia Pitts, LL.M

Secretary

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Kari Apple M.Ed, BCBA

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Mariah Gillaspie

Founder and President

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Jamaiya James, MD

Kristen Wechsler, OTR/L

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Adam Drabick

Fundraising and Outreach

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Erin Hawerlander, RN

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Our Partnerships

Board of Director

Medical and Scientific Advisory Board

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Grace VanNoy, M.S., C.G.C.

Senior Clinical Genomics Specialist,

The Broad Institute

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Diana Walleigh, MD
Assistant Professor, Pediatric Neurology
Children's Hopsital of Colorado

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James Doyle, PhD
Chief Executive Officer
Modelis

 

Our Partnerships

Med/Sci Advisor Board
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