Our mission is to accelerate access to the most advanced and effective therapies to treat children diagnosed with ultra-rare monogenic neurodegenerative diseases. At the Columbus Children’s Foundation, we are deeply driven by the urgency to improve the quality of life for children with life-threatening illness.

An ultra-rare disease is defined as a condition that affects less than one in 50,000 people worldwide.

Sadly, since the proportion of the population that is affected by ultra-rare diseases is so low, far too often, commercial research for cures are not adequately funded. We are committed to change that.

The Columbus Children’s Foundation focuses on some of the most devastating diseases affecting children. Our goal is to accelerate access to the most advanced and effective therapies to treat children living with ultra-rare diseases.

These rare diseases are referred to as “orphan” diseases because the size of the population affected is so low. As the pharmaceutical industry mainly focuses on more common illnesses with greater commercial potential, orphan diseases are often overlooked.

At present, we are searching for gene therapy solutions for a number of neurodegenerative diseases. These are disease with autosomal recessive inheritance (one damaged gene in both copies) and which give rise to the most serious and disabling symptoms of the course of disease.

Gene Therapy

Gene therapy is one of the most promising treatments in research today. The Columbus Children’s Foundation is collaborating with leading research institutions and renowned scientists in the field of gene therapy.

Genetic diseases, like neurodegenerative diseases, are caused by faulty or missing gene or genes. Gene therapy uses genes to combat or prevent the progression of disease. Unlike the vast majority of drugs on the market today that manage symptoms, gene therapy aims to correct the underlying genetic cause of the disease.


1. US Food and Drug Administration’s Definition of Disease Prevalence for Therapies Qualifying Under Orphan Drug Act, accessed at: http://www.ecfr.gov/cgi-bin/ retrieveECFR?gp=&SID=91b7be5e87481538e33a4c0a76ba7183&n=21y5. &r=SUBPART&ty=HTML

2. REGULATION (EC) No 141/2000 OF THE EUROPEAN PARLIAMENT AND OF THE COUNCIL of 16 December 1999 on orphan medicinal products, accessed at: http://ec.europa.eu/health/files/eudralex/vol-1/reg_2000_141/reg_2000_141_ en.pdf

3. REGULATION (EU) No 536/2014 OF THE EUROPEAN PARLIAMENT AND OF THE COUNCIL of 16 April 2014 on clinical trials on medicinal products for human use, and repealing Directive 2001/20/ EC, accessed at: http://eur-lex.europa.eu/legal-content/EN/TXT/ PDF/?uri=CELEX:32014R0536&qid=1421232837997&from=EN

4. www.exploregenetherapy.com