About Us
Who We Are
The NUS1 Foundation was established in 2024 and is a 501c3 tax-deductible non-profit organization based in the United States. (EIN 99-1200443) The NUS1 Foundation was founded by Andrea Johnson and Carissa Carman to support families affected by NUS1 genetic conditions, and to fund research to better understand and treat these disorders.
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As two mothers of children with this condition, our passion is driven by our own personal experiences. We know the importance of compassion, community, and access to reliable resources. It is our pleasure to play a role in connecting families, and providing resources for them to access information, support, and care.
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We are proud to work with CureDHDDS and partner with scientists around the world to improve the lives of those affected by NUS1 genetic conditions.
We hope to pave the way to a better future for those affected by NUS1
On starting a foundation
“Love recognizes no barriers. It jumps hurdles, leaps fences, penetrates walls to arrive at its destination full of hope.”
― Maya Angelou
Meet
the Team
Andrea Johnson
In February of 2018, my son Myron was diagnosed with a pathogenic NUS1 variant, a rare genetic disorder. At that time, I felt an overwhelming sense of isolation. There was quite literally no information or community to turn to for support or guidance.
From that moment, I made it my mission to ensure that no other family would feel the same sense of loneliness I did when Myron was diagnosed. I began a facebook group for parents and slowly, but surely, our community began to grow.
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Six years later, I am honored to be leading a foundation dedicated to bringing resources, research, and community support to families affected by NUS1.
Our goal is to build a network where families can connect, share experiences, and access vital resources. We also hope to foster partnerships with other organizations and researchers who are working to develop treatments and ultimately find a cure for NUS1.
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It is one of my greatest joys to lead this foundation with Carissa Carman, knowing that the work we do today can have a lasting impact on the lives of children like Myron. Together, we can make a difference for these rare, resilient children and their futures.
Carissa Carman
At first, I wasn't convinced that seeing a geneticist was worth it for our son Oliver. We sent DNA to numerous International labs, only to hear back 3-6 months later that it was inconclusive. Finally on the last appointment of the day, our soon to be retiring geneticist said .."look...we need a plan. Your 8 year old should not be so tired and so weak. Something is not right and we are going to make a 1 year plan to find it." Our whole exome sequence was in that plan and came back with NUS1 and LMNA. My husband and I embraced, we hoped our journey forward would be just a bit clearer.
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We prioritized Oliver's advancing care and connected with the Greenwood Genetic Center. One late night email to Dr. Steet lead to an immediate zoom call and inquiry to invite Oliver to GGC to grow his cells for research. Our ultra rare genetic combinations meant they needed us. The team at GGC said that in order to make progress with NUS1 research, families would need to unite. The message was clear....NUS1 needed a foundation.
Our Connection with DHDDS
We are partnering with CureDHDDS to advance research that is beneficial to both genetic disorders.
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"DHDDS variants and NUS1 variants share a metabolic pathway. Given this shared metabolic pathway, de novo variants in NUS1 have recently been associated with a clinical phenotype that overlaps with that described for de novo DHDDS pathogenic variants, namely ID, well-controlled generalized epilepsy, prominent tremor/myoclonus, ataxia and parkinsonism with a slowly progressive course. "-National Library of Science
Because of the similarities of the genes and the rare nature of the disorders, researchers have suggested we combine forces to expedite research and therapies that will benefit both NUS1 and DHDDS.
Learn more and connect