Dahl 1

Eric Dahl

English 3307

Prof. Thomas Akbari

Unit 1 Final Draft

15 May 2017

The Identification of the Childhood Onset Psychosis Genotype

A patient that is experiencing symptoms of a genetic disease, such as Childhood Onset

Psychosis, is first reviewed and diagnosed by a general practitioner. If the case is significant

enough, there is usually interest from analytical researchers to take on the case and investigate

further. With the consent of the patient or a legal guardian, the DNA of the patient is sent to a

sequencing lab in an effort to identify mutations or other abnormalities that may have caused the

disease. With a combination of luck and discipline, a specific gene can be narrowed down to be

the likely cause of the given phenotype.

In my current co-op at Boston Childrens Hospital, our team works to identify these

problematic genotypes every day. Specifically, I am most involved with the laboratory

procedures of DNA Sanger sequencing. I am able to take blood samples and identify the specific

nucleotide sequence that makes up the DNA within. In January 2016, my supervisor, Dr.

Catherine Brownstein, published the paper that determined the genetic origin of Childhood Onset

Psychosis. Published in the American Journal of Medical Genetics, Overlapping 16p13.11

Deletion and Gain of Copies Variations Associated with Childhood Onset Psychosis was yet

another paper to associate a genetic disease to the problematic 16p13.11 gene.

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The association between Childhood Onset Psychosis and 16p13.11 required the full

comparison of the two patients of interest. Similarities between the two case studies were

instrumental to the papers success. Indeed, the two patients share much in common, as can be

seen in the chart in the results section 1(p.1168). However, it would be remiss to not mention that

the chart can stretch the truth. Patient #1 is marked as having a parent with mental health

problems, although the paper states that patient 1s father is thought to have schizophrenia,

however, was not available for testing. Without definitive tests, it seems negligent to include the

fathers suspected disease in the comparison chart.

On the other hand, the paper does a great job of convincing the intended audience,

genetics researchers, that mutations in the16p13.11 gene region can cause many disorders, not

just Childhood Onset Psychosis. For example, from the discussion section 1(p.1168):

The 16p13.11 genomic region has been reported to be associated with

developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism,

behavioral problems, and schizophrenia. To our knowledge, this is the first

description of childhood onset psychosis associated with a deletion or duplication

of 16p13.11. Previous studies reported an onset of psychosis at 15 years with the

deletion and 12 years with the duplication at the broader locus 16p13.

This discussion of the 16p13.11 gene not only successfully ties in Childhood Onset Psychosis to

find a place among the other genetic diseases mentioned, but also encourages further research in

the area. The abundance of neurologic disorders mentioned with gene 16p13.11 is intended to

reinforce the idea that any phenotype remotely related to mental illness is likely to have an

abnormality in that genotype region.

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The citation of each paper that associates 16p13.11 with a specific phenotype also aids

the reader to identify the discourse community, as described by Swales. The goal of each

researcher mentioned, as well as Dr. Brownstein, has been to identify the genotype of the

problematic disease of interest. Interestingly, the individual investigations led by each researcher

has brought them to the same conclusion: mutations in the 16p13.11 gene can cause mental

illness that is likely to be passed from one generation to the next. By successfully identifying the

discourse community, Dr. Brownstein has made it tremendously easy for the reader to get

involved with further research.

It is my hope that this genotype identification will eventually lead to a cure. The

utilization of gene editing techniques like the newly discovered CRISPR/Cas9, if properly

developed, can be used to effectively delete unwanted mutations in the human genome. As a

result, in just a few decades time, it could be possible to cure autism spectrum disorders by

editing mutations in the 16p13.11 gene described in this paper. If a CRISPR/Cas9 cure ever

comes to fruition, this paper by Dr. Brownstein will have served an extremely important purpose

between diagnosis and intervention. Unfortunately, ethics committees are drastically slowing

progress with CRISPR/Cas9 research until a consensus can be reached among geneticists across

the globe. So far, the most progressive agreement made is that CRISPR/Cas9 gene editing should

only ever be done in somatic cells, not in germ line cells 2. This serves to confine the gene edit to

one generation, instead of allowing the edit to be inherited for every generation thereafter.

Although CRISPR/Cas9 research is slow at current, I am optimistic that we will see many

exciting cures and amazing possibilities in genetics within our lifetimes.

I believe that my analysis of the paper perfectly aligns with my expectations of genetics

research. The current state of the genetics field involves the rapid identifying of gene functions,
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mostly due to the dwindling cost of DNA Sanger sequencing. This paper accomplishes that goal.

In addition, the paper is successful in mentioning all previously conducted studies that involve

the gene of interest. This serves the purpose of encouraging communication between researchers

involved, and also promotes further research. During co-op, I am afforded the opportunity to

work with many genetics analyzers and provide the legwork of data compilation. I am able to

observe trends in DNA mutations, but I am unable to identify them yet. However, I do believe I

am able to write at the level presented in the research paper. The text most suggests that an

important aspect of the discourse community of genetics is to read the latest papers that are

related to the topic you are studying. Reading related papers is essential to not only having a

gauge of the current state of the genetics field, but also to cite them as sources for your own

paper and gain authority in respect to the reader. Building off the information that each

independent researcher provides, and finding where your own research fits in, is the foundation

of writing in the genetics discipline.

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References

1. Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH,

Picker J, Fogler JM, Carroll D, et al. 2015. Overlapping 16p13.11 deletion and gain of

copies variations associated with childhood onset psychosis include genes with

mechanistic implications for autism associated pathways: Two case reports. American

Journal Medical Genetics. 170:11651173.

Available from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37595/full

2. On Human Gene Editing: International Summit Statement. Dec. 3, 2015. Washington,

D.C.: The National Academies of Sciences Engineering Medicine; [accessed 2017 May

15]. Available from:

http://www8.nationalacademies.org/onpinews/newsitem.aspx?RecordID=12032015a