A New Hope for Childhood Deafness

Cassidy DeMasi

Dr. Barbato

12/7/2025

                                                      A New Hope for Childhood Deafness

The OTOF gene allows the inner ear send sound signals to the brain. We first learn about whether this gene is functioning appropriately when a child is first born, because we learn that they fail their newborn hearing test. This is because when this gene has a mutation, the ear can hear sound but can’t send the signal correctly. This causes auditory neuropathy. It is typically inherited from both parents and is often best treated with a cochlear implant. However, cochlear implants require surgery, and the last thing that a parent wants their young kid to go through is surgery. 

However, there is a new genetic treatment on the market presented by the University of Cincinnati. The study states, "The treatment, which targets a mutation in the otoferlin (OTOF) gene, has been effective in most of the tested children. The rare mutation causes hearing loss in an estimated 20 to 50 babies born in the U.S. each year. Deafness linked to OTOF mutations is a type of auditory neuropathy, a spectrum of disorders in which the inner ear can detect sound but struggles sending that information to the brain," (Burgasser, 2025) This discovery brings new hope to families that just want their children to hear their voice for the first time. It also contributes to discoveries in new findings for potentially curing genetic deafness.

Resources 

Burgasser, M. (2025, December 8). The gene therapy poised to rewrite childhood deafness. UC News. https://www.uc.edu/news/articles/2025/12/the-gene-therapy-poised-to-rewrite-childhood-deafness.html

OTOF otoferlin [Homo sapiens (human)] - Gene - NCBI. (n.d.). Www.ncbi.nlm.nih.gov. https://www.ncbi.nlm.nih.gov/gene/9381

Fathers pass on four times as many genetic mutations

According to the science section in The Guardian, children inherit four times many new mutations from their fathers than their mothers. Researchers in Iceland also suggest from their research that the faults in the men's DNA are the driver for rare childhood diseases. In the article it also states children born to older fathers have a greater risk of developing certain disorders like intellectual disabilities, and as well as autism and schizophrenia. This is more likely to happen because gene are  more active in the brain than other organ in the body. Men pass on more mutation because they make more sperm throughout their lives live which does not perfect copy of DNA. It also states in the article that in some parts of the genome, new mutations were passed on from mother abruptly. When these mutations occur it causes the chromosome to break in two and patches back in leaving the mutations to be a genetic scar.  A quote from a professor  stated that for many years it was known that the risk of having a child with a medical condition was to occur increasingly with the father' age. That is why there an age for a upper age limit for sperm donors because simply the genetic quality of sperm from younger men is much better in the terms of new mutations than older men. I found this very interesting because I would not have thought not only women are the factors for rare childhood diseases in children but also fathers make a great deal of contribution it had never came across my mind until I had read this article the fact that age makes an difference too really had shocked I would not have thought that made a difference in medical conditions when having a child.

https://www.theguardian.com/science/2017/sep/20/fathers-pass-on-four-times-as-many-new-genetic-mutations-as-mothers-study
https://www.newscientist.com/article/2148071-old-fathers-pass-on-more-mutations-to-kids-than-old-mothers/

Pediatric cancer and its Recurrence

            Many would argue that pediatric cancer, cancer in children specifically those aged 1 to 14, is arguable one of the worse victimizers of children out there.  It results in an 80 percent survival rate over 5 years.  Unfortunately even those who survive are at an increased risk for a secondary cancer to develop in the skin, thyroids, or breasts.   By age 45 almost thirty percent of childhood cancer victims have been re-diagnosed.  A much higher rate than someone who didn’t previously have cancer.   Noticing this increased risk researchers set to find out the cause.   They took a look at about 3007 survivors of childhood cancer and analyze their DNA specifically 156 genes that have been previously linking to cancer.  It was found that 11.5 percent of the survivors had a mutation in one of these genes. The researchers then looked specifically at a subset of about 60 genes which carried a higher risk factor than the others, 6 percent of those looked at had a mutation in this subset of genes.  Radiation therapy is also increases the risk factor for secondary cancer development.  Further dividing up the childhood victims by this factor showed that 17% of individuals who did not have radiation therapy, had a mutation in the subset of 60 genes, and a higher risk for secondary cancer. Individuals who possessed both a mutation in one of the 60 genes and previous radiation treatment had a higher risk for specific kinds of second cancers which included; breast, thyroid or sarcomas,  and tumors in connective tissues.  The team concluded that individuals who had cancer as a child, did not receive radiation therapy, and then became diagnosed with a secondary cancer receive genetic counseling.

Original article here

for the American Cancer Societies page on pediatric cencer here 

Why Are Some Patients Resistant to Genetic Diseases?

Some diseases, such as Huntington’s, sickle cell, and cystic fibrosis, are controlled by a single gene. These are called Mendelian diseases. This means that if a patient has a certain mutation on that one specific gene, that person will have the disease. However, in a recent study, researchers found a handful of people, who although they had the mutation, did not display any signs of the disease. This lead to the belief that understanding what makes these people different could help lead researchers to better treat, or even prevent, these Mendelian diseases.

In a new study, researchers analyzed 874 genes collected from over 400,000 people (all supplied by 23AndMe). Of the 874 genes, researchers focused on the 584 Mendelian conditions that set in during a patient's childhood, and compared that data to information about the patient's health.  Out of the 400,000 people analyzed, researchers discovered 13 individuals whom although had the mutation that would indicate a Mendelian disorder, they did not show any signs of the disease. However, researchers are still looking for what these 13 people have in common.

In my opinion, the most interesting/exciting thing about this article is how researchers were able to utilize the genetic information complied by 23AndMe. This is just one of many articles I have read that mentioned they utilized 23AndMe. However, one big limitation to using 23AndMe, at least in this type of study, is that researchers cannot contact any of these individuals family members, so that prevents them from being able to compile an entire genome. 

http://www.popsci.com/scientists-detect-patients-resistant-to-penetrant-genetic-diseases
http://www.nature.com/nbt/journal/vaop/ncurrent/full/nbt.3514.html