
Research Institute
Our vision is to work towards a world free of ultrarare diseases



Who we are
The RTWCF Research Institute conducts drug development research dedicated to developing therapies for ultrarare diseases that lack commercial potential.
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