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.

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​