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As many of you have already observed and experienced, the Chromosome 18 Clinical Research Center generally has two parallel approaches for investigating treatments for people with the chromosome 18 conditions.
The first is to define the issues the individuals have and determine the most appropriate treatments. When there is not a clear treatment path, we try to define the underlying genetics and use that information to develop novel treatments.
The second approach is to use the emerging information we learn about the function of the genes (on chromosome 18) when present in the wrong number of copies. Then, our researchers determine if that information applies to people with a chromosome 18 condition that involves those specific genes. Recent information regarding a gene on 18p and another on 18q found that each one may have an effect on a person’s sense of smell, or ability to detect odors.
This may sound trivial at first but having no sense of smell (also called Total Anosmia) means that a person cannot smell such things as smoke, natural gas, or rancid food, which can have a major impact on safety and health! Additionally, someone with a poor sense of smell may not realize when they or their living quarters smells bad, which can have major social consequences as well.
We found that screening for the ability to smell is relatively simple, so we decided to evaluate a small number of study participants who were attending the Chromosome 18 Registry and Research Society family conference in Charlotte, North Carolina. We hoped that the results from this would let us know if we should be testing a larger group of study participants.
The evaluation involves a series of 40 “scratch and sniff” tests in which the participant scratches a small square of paper, smells the paper, and picks from 4 choices to identify the correct smell. Because each page of the test booklet has only 4 choices, a completely random guess would be 10 of the 40 correctly identified. Also, even if the person does not know the specific odor, they may recognize that the odor is not one of the three choices and correctly pick the fourth choice.
We ordered only 20 test booklet packets to determine if this evaluation was worthwhile. What we found was very surprising.
We evaluated 11 individuals with 18p-, and found all participants were below the 5th percentile in their ability to detect odors:
5 had Total Anosmia,
2 had Severe Microsmia
4 had Moderate Microsmia.
9 individuals with 18q- were also evaluated, and again, all were below the 5th percentile in their ability to detect odors:
4 had Total Anosmia
1 had Severe Microsmia
4 had Moderate Microsmia
Many things can affect a person’s sense of smell, including changes in your immune system, such as a current sinus infection, allergies or a recent COVID infection. In these cases, the problem may be temporary and treatable.
However, if the anosmia is thought to be related to the chromosome 18 condition, and has been an issue since birth, there are currently no known treatments. This is novel research, so an awareness of the condition is the first step toward finding individual treatment. Your otorhinolaryngologist (ENT) can provide more specific advice about anosmia.
We want to learn more about the prevalence of anosmia in people with the chromosome 18 conditions. The evaluation conducted at the conference can be performed by mail, so we will be ordering additional kits and asking additional study participants if they wish to participate.
Stay tuned for the results!
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