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.
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.
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, 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.
THAP12 was discovered in 2019 through Whole Genome Sequencing of the first and only two known patients in the world...
Emma and Abby
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.
The Lightning and Love Foundation is using Cell Models, Animal Models, and cutting edge technologies to better understand THAP12 and move towards a CURE!
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.
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.
But things are changing...
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.
We are excited to represent the n-of-few community, and to advocate for no disease left behind!
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".