For my final blog, I wanted to discuss an article that I had
come across that hits pretty close to home. Three members of my immediate
family have, familial adenomatous polyposis (FAP), a genetically inherited
condition that is caused by a missense mutation in the adenomatous polyposis
coli (APC) gene (Mayo Clinic, 2019). The mutation is generally inherited from
one of the parents in an autosomal dominant mechanism, but for ~25% of patients, it is a spontaneous de novo mutation (Mayo Clinic, 2019). This brings a unique
ethical dilemma involving the possible treatment of genetic conditions with
CRISPR. Unfortunately, CRISPR is dangerous and could have malicious
applications, but I believe that the benefits of curing these rare genetic
conditions are more important. Although, we must not rush the application of
CRISPR as it is very new and unstable.
FAP does
not have a cure as of right now because it is a genetically inherited disease,
but there are steps that can be taken to decrease the risk of developing
colorectal cancer and treating symptoms. The first thing that will happen when
a parent with FAP has a child is they will perform genetic testing (Mayo
Clinic, 2019). Genetic testing of FAP is fairly new and before genetic testing
was utilized the child would have to receive a colonoscopy every 1-2 years to
check for polyps. If the child has the mutation, then the child will need to
continue yearly colonoscopies where the surgeon will remove any polyps.
Generally,
when the child is between the age of 12-18 years old it is recommended that a
colectomy (removal of the colon) is performed. Currently, research is being done to
identify possible mechanisms that could help prevent the development of polyps
or at least decrease the rate of growth (Mayo Clinic, 2019; Revital et al.,
2019). Research suggests that the use of erythromycin, an antibiotic, decreases
the size/ number of polyps in patients with FAP (N=10) (Revital et al., 2019).
While the use of erythromycin may not prevent FAP, it may be a way to decrease
the burden and complications associated with high amounts of colon polyps.
Personally, this groundbreaking research really makes me reflect on not only my
family’s struggles with FAP, but everyone who is struggling with a medical
condition. I’m thankful that my family is alive and well and I am eager to see
if we can develop standard treatments that can increase the quality of for
patients with FAP.
References:
American Friends of Tel Aviv University. (2019, October 3).
Treatment for familial adenomatous polyposis: Adolescents and young adults with
the inherited disorder bear a high risk of developing colorectal cancer.
ScienceDaily. Retrieved December 1, 2019 from
www.sciencedaily.com/releases/2019/10/191003105421.htm.
Mayo Clinic. Familial adenomatous polyposis - Symptoms and
causes. (2019). Retrieved 1 December 2019, from https://www.mayoclinic.org/diseases-conditions/familial-adenomatous-polyposis/symptoms-causes/syc-20372443
Revital Kariv, Michal Caspi, Naomi Fliss‐Isakov, Yamit
Shorer, Yarden Shor, Guy Rosner, Eli Brazowski, Gil Beer, Shlomi Cohen, Rina
Rosin‐Arbesfeld. (2019) Resorting the function of the colorectal cancer
gatekeeper adenomatous polyposis coli. International Journal of Cancer; DOI:
10.1002/ijc.32557
No comments:
Post a Comment