In the US, a disease is considered “rare” if it affects fewer than 200,000 people. 1 in 10 Americans has a rare disease and about half of those are children. 70% of all rare diseases are diagnosed in childhood. Well-known rare pediatric diseases include cystic fibrosis, Down syndrome, and childhood cancer.

Frances is one of just 6 kids in the world with DHDDS, which is considered a nano-rare, or ultra-rare genetic condition. Frances’ disease is caused by specific changes to a protein coding gene called DHDDS. Only 1 in 30 patients worldwide might have her exact mutation. Most nano-rare patients have a single gene mutation that causes a cluster of symptoms that lead to degenerative conditions and even death.

The hallmarks of translation research are bench, bedside, and community. Whereas clinical research involves individuals, translational research applies discoveries generated in the laboratory to studies in humans (“bench to bedside)”, and speeds the adoption of best practices in community settings (“bedside to practice”). Our translational research projects help all kids with rare diseases, not just individual patients, and may also lead to treatment breakthroughs in older adult diseases like Alzheimer’s and Parkinson’s disease.

Drug Repurposing Studies explore existing, approved drugs that are known to respond to similar symptoms in other diseases in the hopes that they can be used to treat rare diseases like DHDDS. Repurposing studies generally require an upfront investment of at least 50K with additional investments up to 350K made as milestones are hit. We are currently co-funding a drug repurposing study in partnership with another DHDDS family in the UK at an initial cost of 70K.

We anticipate investing another 50K in the coming months.

All preclinical drug studies require a laboratory “disease model” to demonstrate the efficacy of treatment in a non-human model (ie. yeast, zebra fish, mice) before the drug can be tested in humans and receive FDA approval. Standing up a disease model can cost 7-10K annually on the low end and 30-40K annually for a full colony.

We will be kicking this project off for Frances in the new year.

A functioning biorepository is a library of biospecimens that can be made available to researchers at a moment’s notice. We are creating a biorepository of Frances’ blood and tissue samples that can be shipped “at once” to labs around the world as new studies are found and funded. The cost to maintain a biorepository can run up to 15K per year.

Gene Therapies use technologies like CRISPR to selectively modify the DNA of living organisms to treat and cure life-threatening genetic diseases. They are one time injections administered through a spinal tap and can run up to 1M for a customized treatment. While the current cost is enormous, rare disease families may save money in the long run by investing in developing and manufacturing gene therapies when compared to years of out of pocket expenses. Gene therapies represent the future of medicine and as DNA editing becomes more commonplace, costs will likely come down.

ASO, or Antisense Oligonucleotide Therapies, also act on genetic diseases but attach to strands of RNA rather than DNA. The n-Lorem Foundation develops personalized medicines using “antisense” RNA to treat patients of rare diseases. ASO therapies can cost upward of $750,000 a year. Frances has been accepted into n-Lorem’s nano-rare disease program and we are eagerly awaiting the kickoff of their research into DHDDS.