This experiment was conducted in a dry-lab and based off of wet-lab samples that had

already been collected from the individual. This experiment started with the filtering of the wet-

lab data so the lowest-hanging fruit of of genetic anomalies could be found in the individual.

After filtration, this spreadsheet that was made contains those mutations that were Indels and

novel in the databases used for filtration. After this was done, further analysis could begin. The

first addition made to the spreadsheet are the columns of house data that identify the number of

people with the specific mutation listed. These three columns: # of AD carriers, # of EH carriers,

and # of NA carriers, are able to further narrow the scope into how novel the individuals

mutations are. The genes that stood out were those that had low numbers, preferably single-

digits, in their rows for these three columns. For example, the SCAF1 mutation was found in

only three of the individuals for house data for AD, and then was only found once for EH and

NA. This means that this individual was the only one to be found with this mutation relating to

EH and NA in the house data, and one of three for AD. The conclusion that can be reached is that

this gene mutation is specifically rare, and therefore is a candidate for explanation of the severity

or rarity of this individuals disease.

The next section contains links to the GeneCard pages used to obtain more in-depth

descriptions and details about each gene, which are found in the column following. The next

portion of the data consists of the Residual Variation Intolerance Score (RVIS) for each of the

proteins, This score measures the deviation from the predicted and the actual amount of

functional variation of the protein. This predicts the likelihood of the mutation affecting the gene

enough to be expressed. Negative RVIS translates to a gene having less functional variation than

predicted and positive means the gene has more functional variation than predicted. The negative
RVIS tips off that the gene may not be functional if mutated. These are the genes that, according

to the RVIS, will most-likely be the causes of non-functional proteins, and therefore the origin of

this individuals issues.

The next column contains annotations that would connect the protein to AD. Some

proteins are directly correlated with the immune system or the nervous system, which would

explain itching, while others explains other facets of AD, such as sleep disruption and recurrent

infections. Those mutations that deal with circadian clocks and sleep patterns are ones that could

be targeted further in personalized medicine for AD as much of sleep disturbance in AD is

blamed on itching rather than a genetic mutation. Focusing on some of the lesser-known and

overlooked mutations that do not directly correlate with AD but rather correlate with its related

symptoms could allow personalized medicine to control these symptoms that decrease quality of

life.

The final portion of this data also comes from GeneCards, and it specifies the phenotypes

associated with each genes mutations. Most deal with bacterial or viral infection, but there are

other specification that directly correlate with the immune system. The IL-8 secretions, for

example, allow for the immune system to target infection, especially on the skin. Those that have

decreased secretions could potentially not detect foreign objects on the skin, allowing for

increased and recurrent infection. Viability is the genes capacity to divide with minimal

mutations, or its capacity to fix any mutations that have been made. shRNA has the ability to

silence certain gene expression. Too much shRNA could render a gene completely useless, and

too little could ruin feedback inhibition and proper expression. These last few columns explain

exactly how the body could be affected by these mutations, and could allow for treatments or

possibly medication that could target these specific areas.

 The data that has been collected provides a wide range of possibility for treatment of this

individual. By pinpointing their deficiencies in the immune and nervous system as well as genes

that affect less immediately-targeted symptoms such as sleep deficiency, personalized medicine

in the form of medication or treatment can be created for this specific individual. The ability to

delve into this individual's genome and pinpoint the genetic origins of the AD specific to their

life allows for a better understanding of how to treat them, and also creates a space of certainty

for treatment.