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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

My son, Myron was diagnosed with NUS1  in February of 2018. At the time, when I came home and searched for information and community I came up empty handed. From that point forward it has been my mission to bring about a non profit to localize information, resources and connect families so that no one has to feel the loneliness and worry I had when Myron was diagnosed.

Now six years post diagnosis, I am so thrilled to be heading up this foundation with Carissa Carman. It is one of my greatest pleasures to be able to fundraise for research,  treatments and partner with other NUS1 families to better our children's futures. I hope that with access to resources and community we can impact positive change for this ultra rare disease. 

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. 

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.

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Pipetting Samples and Test Tube
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.  

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