Research Institute
Our vision is to work towards a world free of ultra rare diseases
Who we are
The RTWCF Research Institute conducts drug development research dedicated to developing therapies for ultra-rare diseases that lack commercial potential.
There are over 10,000 rare diseases
There are over 300 million people in the world affected by rare disease
About 95% of rare diseases do not have therapeutic options
Many conditions are so rare that no financial model exists to bring such treatments to patients
The RTWCF Research Institute is a world-class team of drug-discovery experts
We are dedicated to developing therapeutics and discovering cures for ultra-rare diseases
We believe in a world free of rare diseases
Our founding project
Christianson Syndrome
An X-linked genetic disorder that affects brain development primarily in boys. Symptoms include developmental delays, epilepsy, ataxia (movement/balance problems), lack of speech, eye movement problems, microcephaly (small head size) and hyperkinesis (constantly moving). Symptoms appear between 2 and 4 years of age, progressively worsening during the first decade of life.
Disease Prevalence:
- ~125 known patients worldwide
Existing Treatments:
None, beyond pharmacological management of seizures
Affected gene:
- SLC9A6 gene loss of function.
- endosomal Na+/H+ Exchanger 6 (NHE6) protein
Therapeutic Strategy:
Gene Replacement: SLC9A6-AAV9
