A disease is generally considered to be ultra-rare if it affects one patient per 50,000 people (or, fewer than 20 patients per million of population) —and most ultra-rare diseases affect far fewer than this—as few as one per million or less.
Monogenetic disorders are caused by a mutation in a single gene. The mutation may be present on one or both chromosomes (one chromosome inherited from each parent). A major distinction among monogenic disorders is between “dominant” and “recessive” diseases. Dominant diseases are caused by the presence of the disease gene on just one of the two inherited parental chromosomes. In dominant diseases, the chance of a child inheriting the disease is 50 percent. Recessive diseases require the presence of the disease gene on both of the inherited parental chromosomes. In this case, the chance of a child inheriting a recessive disease is 25 percent.
Gene Therapy has the potential to help people with monogenic diseases. In a person with a monogenic disease, there is one gene that is missing or does not work right. This results in either the protein being made incorrectly, made in short supply, or not made at all.
The goal of gene replacement therapy is to give the body a new, working copy of the missing or faulty gene. This new gene may or may not become part of a person’s DNA and is able to give the body instructions for making a particular protein the body needs.
Gene Therapy is a type of treatment that uses genes to treat or prevent diseases. It works by inserting a gene in a patient cells, instead of using a drug or surgery. The right gene is carried to the cells using a “vector”. This “vector” is created by making changes to a naturally occurring virus. AAV (adeno-associated virus) are used because they are not known to cause sickness in people.
The vector that carries the gene enter the body and goes into the target cells. Once inside the cell nucleus, the new gene start working producing the protein the body needs. The rest of the vector is broken down by the body.
Columbus Children Foundation will target several monogenic ultra-rare neurodegenerative disease and will contribute to the development of the cure
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=21y18.104.22.168.6.3 &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