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​