MymiddlenameisScience!!!$

"When you help someone, You help everyone" - May "Riley" Parker

[MymiddlenameisScience!!!$ @Cuz_science_lit]

#prescottgenomics This project was an amazing opportunity because it allowed me to see how information on a disease such as Ehlers Danlos syndrome compares to the information on other genetic diseases! https://t.co/6r03Ufrf7g

[MymiddlenameisScience!!!$ @Cuz_science_lit]

@Firesta85432276 Maybe when it comes to direct to consumer genetic testing, these less regulated companies may be more inclined to keep their privacy policies on the more nebulous side for their websites. That is probably not the case, but it could be something that they could get away with.

[MymiddlenameisScience!!!$ @Cuz_science_lit]

@NoemiG125 I wonder why the genetic screening of this disease in African Americans was even necessary in the first place? It is crazy how discrimination can even happen on the genetic level societally speaking, especially since these tests were made to help, not discriminate against people.

[MymiddlenameisScience!!!$ @Cuz_science_lit]

@LillyLucy99 I think that it is really interesting that France does not allow DTC genetic testing in their country. It makes me wonder why they decided to not follow the trend, especially when the rest of Europe seems to be on board with it. Perhaps they do not see it as a scientific priority

[MymiddlenameisScience!!!$ @Cuz_science_lit]

#Ethicalgenetics

[MymiddlenameisScience!!!$ @Cuz_science_lit]

#prescottgenomics Section 202 of the GINA act that described the exceptions to the rule that employers cannot buy the genetic information of employees unless employers are testing biological toxicity of substances in the workplace interested me a lot. https://t.co/uBEd9ABmkx

[MymiddlenameisScience!!!$ @Cuz_science_lit]

This post is interesting because it alludes more to the marketing aspect of consumer genetic testing. Looking at these tests from this perspective can help reveal what demographics of people are interested in genetic tests and how this can help advance future public databases.

[San Francisco Biotechnology Network @sfbionetwork]

SFBN Feed: New Study from StrategyR Highlights a $1.9 Billion Global Market for Direct-to-Consumer (DTC) Genetic Testing by 2026: SAN FRANCISCO , March 1, 2022 /PRNewswire/ -- A new market study published ... #BayArea #Biotech https://t.co/3H0Mp98weD

[MymiddlenameisScience!!!$ @Cuz_science_lit]

@bryanna_rizas I think it is really interesting how you mentioned the idea of focusing on CBF as a treatment option for patients with Alzheimer's disease. It makes you wonder about all of the different ways that can be used to treat diseases like this!

[MymiddlenameisScience!!!$ @Cuz_science_lit]

#prescottgenomics

[MymiddlenameisScience!!!$ @Cuz_science_lit]

https://t.co/hLVBUHLrmN
I learned from this article that Ehlers Danlos Syndrome is a complicated genetic disease with new genetic variants that are still being discovered. One of the main findings is that the authors identified a frameshift mutation and two indel mutations.....

[MymiddlenameisScience!!!$ @Cuz_science_lit]

This all connects to my topic as I am beginning to conduct research into the different genomic aspects of Ehlers-Danlos Syndrome

[MymiddlenameisScience!!!$ @Cuz_science_lit]

@LillyLucy99 This was another thing that I found to be really interesting while I was looking at the ensembl website. It was really cool to see just how much information they give on specific phenotypes that a gene can cause and most of them are related to signs and symptoms of a disease!

[MymiddlenameisScience!!!$ @Cuz_science_lit]

While I was learning how to use and exploring the website for @ensembl, One of the things that I found to be most interesting was how the Variant tables explain not only what type of variants can be found for a specific gene, but also which alleles are affected by the variation.

[MymiddlenameisScience!!!$ @Cuz_science_lit]

This is a genetic variant table which shows the different genetic variants for the gene COL1A1 ENSG00000108821. This gene can express the disease Ehlers-Danlos Syndrome, Arthrochalasia type.

[MymiddlenameisScience!!!$ @Cuz_science_lit]

This page was very interesting! I actually have a question about it though and I was wondering what sort of genetic mutation or polymorphism causes this genetic disease of AATD or if it even works in this way? Like is this an SNP or is this caused by some other mutation?

[23andMe @23andMe]

A new 23andMe study published in @journal_CHEST is the largest study to date that examines both the prevalence of alpha-1 antitrypsin deficiency and the behavioral impact of learning that one carries a risk variant for the condition. https://t.co/M7u0pyWiSQ

[MymiddlenameisScience!!!$ @Cuz_science_lit]

@bryanna_rizas @NHGRI_Director I remember watching the video that described the human genome project and who was largely involved in it and I remember it was someone named Collins who was chiefly mentioned. I was wondering how exactly Eric Green wishes to advance Precision medicine and the likes of that?

[MymiddlenameisScience!!!$ @Cuz_science_lit]

One of the groups that I chose to follow was @NCIgenomics. Their goal is to conduct and support research across the functional, structural, and computational sub disciplines of cancer genomics to improve precision medicine treatments for patients. #prescottgenomics