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 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!
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".