Today, I’m helping amplify a $50,000 fundraiser for Sophie’s Neighborhood as part of World Pediatric Bone & Joint Day. Amy and I just contributed $25,000 so we are effectively matching any contributions dollar for dollar up to $50,000.
Whenever I feel exogenous stress from the world, it helps me lower it by doing something to support someone in need. The #Calwood fires just outside of Boulder that broke out on Saturday added to a pile from 2020 that is beyond anything I’ve experienced in my life.
Boulder is a magnificent city, but there are plenty of challenges for people everywhere. If you’ve eaten at Blackbelly, Santo, Jax Fish House, Dandelion, or Triana (remember Triana?), you probably know Chef Hosea Rosenberg. And you might know his wonderful wife Lauren and their delightful child Sophie.
Sophie has a rare disease called Multicentric carpotarsal osteolysis syndrome (MCTO). It is a skeletal disorder characterized by aggressive osteolysis associated with progressive nephropathy. Basically, serious stuff that is not well understood.
The Rosenberg’s have gone extremely deep on the science of the disease and are supporting a substantial amount of research, including:
- Cell line development to study the mutation and get a readout on what is going wrong in the gene that is mutated
- Screen existing drug libraries against the mutation to see if there is an already approved compound or small molecule (or drug undergoing clinical trials) that exists for drug repurposing
- Examine proteomic differences caused by the mutation and identify a target protein for the treatment
- Development of iPS cells specific to Sophie’s variant to try and correct the error using gene-editing technology
- Study of the molecular mechanisms underlying the disease with a genetically modified MCTO mouse model
- Database with natural history disease tracking genotypes with disease phenotypes
It’s difficult to get sponsored research for diseases like this, so the Rosenbergs have been raising money to fund this activity.
Sophie is still in the “miracle window,” – the time in which her diagnosis is known, but symptoms are not yet very severe. But it is slipping away with each passing day. Funding is essential to continue the work to get closer to discovering or repurposing an effective and life-changing therapeutic.
If you are a Boulderite, have enjoyed any of Chef Hosea’s food at Blackbelly or Santo (or any of the other restaurants he’s worked at in the past), or just want to help try to figure out the cure for this rare disease, please join the fundraiser today and contribute to helping find a cure for MCTO.