According to a recent news item that appeared on The Denver Channel, we are now in the age of genetic research that could have an impact on the lives of people with rare diseases. When the need for more rare disease treatments came ringing, Rich Horgan answered the call. He started the non-profit biotech Cure Rare Disease foundation for his brother, Terry, who was diagnosed with Duchenne muscular dystrophy (DMD). Terry’s doctor told the family that there is no cure and suggested that they go home and spend their remaining time together. As Rich said, this was not acceptable to the family.
During the past several years, Cure Rare Disease began to fulfill its promise to create an organization comprised of some of the world’s foremost researchers and clinicians. These talented clinicians are capable of developing customized therapeutics that can treat Terry’s disease as well as other previously incurable diseases.
Rich explains that for the moment, these genetic therapies are individualized. However, the teams expect to eventually create a comprehensive library of mutation-specific therapies.
About Muscular Dystrophy
Muscular dystrophy patients are affected by muscle weakness and its progression throughout their lives. NORD estimates almost 250,000 people are affected in the U.S.
DMD is fatal in cases such as Terry’s because it affects critical organs such as the diaphragm and heart. Rich hopes that the therapy will strengthen Terry’s heart and arms, allowing him to be more independent.
CRISPR At the Forefront
The treatment that is being developed for Terry’s disease involves CRISPR.
The full title for CRISPR is clusters of regularly interspaced short palindromic repeats. CRISPR refers to sequences in the bacterial genome which by definition is an organism’s complete set of genetic instructions. When merged with CRISPR-associated proteins, the combination protects against viruses.
The technology is focused on restoring the dystrophin protein to muscles by editing the DMD gene. Researchers program CRISPR to act as molecular scissors and either delete or replace strands of the mutated DNA.
When using CRISPR to treat Duchenne muscular dystrophy, the process restores the DMD gene’s ability to produce dystrophin. The efficacy of the process has been proven when tested on the foundation’s lab animals.
Locating an insurance provider is also on their list of urgent matters. Until such time as insurance coverage is in place, the foundation must depend on private donations for research and manufacturing as well as providing dosing for Duchenne muscular dystrophy patients.
An assistant professor at Yale University, Dr. Monkel Lek, commented that CRISPR has revolutionized an impressive amount of genetic research. He explains that especially with rare diseases, in order to correct the mutation or a defect, the scientists must be at or near the target. CRISPR allows editing of a person’s DNA and therefore fixes the genetic mutation.
Dr. Lek is a person with a form of muscular dystrophy called limb-girdle muscular dystrophy. He well understands the urgency felt by patients and their families because as he says, he lives with the disease 24/7. He fully empathizes with the struggles and challenges experienced by patients and families.
Waiting for Approval
Sometime in the next several months, the foundation researchers will submit an investigational NDA to the FDA. If the application is approved, Terry should receive his first dose before the end of this year. He may possibly see positive results within six or eight weeks of his treatment.
Millions With Rare Diseases
It is estimated that there are seven thousand rare diseases that affect over three hundred million people in the world. According to Dr. Lek, diseases such as Duchenne muscular dystrophy were death sentences at one time. Now they are very close to becoming chronic disorders like diabetes. They now have the technology to reach their goal which is to help every affected individual.
And for the Horgan family that would mean that Terry, now age 26, may eventually be able to be mobile without the help of a wheelchair.