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.
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, they affect only one, two, maybe three people in the entire world. These “n-of-few” cases may seem impossibly uncommon on their own—but together, they tell a different story.
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Today’s approach to treating rare diseases is slow and inefficient, tackling one genetic condition at a time. With more than 7,000 known rare diseases, this one-by-one strategy will never keep up.
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But that’s starting to change.
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We’re discovering that while our individual genes may differ, the types of mutations that disrupt them often follow common patterns. If we can repair a harmful variant in one gene, there's a growing chance we can apply the same solution elsewhere. This opens the door to building platform technologies—broad tools that can treat many monogenic conditions, not just one.
With this shift, curing any genetic disease becomes possible—even the rarest.
We’re proud to stand with the n-of-few community and to champion a future where no disease is left behind.
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".
