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.
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 ultrarare 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
