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countesspetofi · 7 months

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Have an Autoimmune Disease? Blame the Black Death

More from The Department of What Doesn’t Kill You Makes Your Life Miserable.

If my autoimmune-disease-riddled brain understands this correctly, gene variants that were more resistant to the plague happened to also be the ones associated with making your immune system go cuckoobananapants and start attacking your body. So a lot of the people with those variants survived the pandemic and became the ancestors of us schmucks with our lupus and our Crohn’s and our rheumatoid arthritis and our what have you.

#heredity #autoimmune disease #autoimmune disorder #y pestis #the black death #my body is a dumpster fire #science #allele

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jcmarchi · 2 months

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Navigating the Genetic Landscape of Blood Cancers: Innovations in Diagnosis and Treatment - Technology Org

New Post has been published on https://thedigitalinsider.com/navigating-the-genetic-landscape-of-blood-cancers-innovations-in-diagnosis-and-treatment-technology-org/

Navigating the Genetic Landscape of Blood Cancers: Innovations in Diagnosis and Treatment - Technology Org

In an era where precision medicine is swiftly becoming the gold standard, the battle against rare blood cancers, known as myeloproliferative neoplasms (MPNs), is advancing with remarkable sophistication. Renowned health organisations, including the World Health Organisation and the International Consensus Classification, have emphasised the crucial role of identifying mutations in specific genes such as JAK2, MPL, and CALR. This focus is particularly pivotal for diagnosing MPNs that do not show the Philadelphia chromosome, a hallmark for some types of leukaemia, underscoring a nuanced approach to tackling these complex diseases.

A blood test. Image credit: U.S. Air Force photo by Staff Sgt. Teresa J. Cleveland, Public Domain via Health.mil

Strategic mutation detection: Guiding the way forward

The National Comprehensive Cancer Network provides a structured framework for testing, guiding physicians through a meticulous process of mutation detection. Initially, the focus is on identifying mutations in a particular segment of the JAK2 gene. If suspicions of MPN persist, the testing scope expands to include CALR and MPL mutations, particularly for suspected cases of essential thrombocythemia or primary myelofibrosis. For individuals possibly facing polycythaemia vera (PV), a distinct MPN form, analysis of a different section of the JAK2 gene becomes imperative.

Diverging pathways: BCR-ABL and beyond

The quest to understand and categorise these disorders has led to the division of molecular laboratory investigations into two critical pathways, mirroring the complexity and specificity of the diseases themselves.

Firstly, there are tests aimed at detecting the BCR-ABL rearrangement – BCR-ABL quantitative polymerase chain reaction (qPCR) – a genetic hallmark of chronic myeloid leukaemia (CML). This particular type of MPN is defined by the presence of the Philadelphia chromosome, a product of this rearrangement, and signifies a distinct category within the MPN spectrum. The identification of the BCR-ABL gene through molecular diagnostics is not just a matter of classification; it directly influences the treatment strategy. Patients with this rearrangement are typically treated with tyrosine kinase inhibitors (TKIs), which target the abnormal protein produced by the BCR-ABL gene.

On the other side of the diagnostic divide are the tests designed to identify mutations in the driver genes of Philadelphia chromosome-negative (Ph-negative) MPNs. This category encompasses a variety of conditions, including PV, essential thrombocythemia (ET), and primary myelofibrosis (PMF), each associated with mutations in genes such as JAK2, CALR, and MPL. Unlike their BCR-ABL-positive counterpart, these Ph-negative MPNs require a different approach to diagnosis and treatment, relying on the identification of these specific mutations to guide therapeutic decisions.

Early Detection through advanced technologies

This detailed diagnostic pathway is integral to a larger story of innovation within haematology laboratories, where tools such as qPCR and digital PCR (dPCR) facilitate the early identification of key mutations at low variant allele frequencies (VAF). These advancements enable the detection of disease markers years, sometimes decades, before the clinical onset of haematological malignancies, tracing some mutations back to as early as childhood or even prenatal stages. Early mutations detected in conditions ranging from the asymptomatic “pre-MPN” phase to overt MPN highlight the disease progression continuum and underscore potential intervention opportunities.

Precision in genetic testing and its implications

In the area of Ph-negative MPNs, the accuracy of genetic testing is increasingly crucial. The World Health Organisation emphasises the critical role of identifying the JAK2 V617F mutation as a core diagnostic criterion for PV, ET, and PMF. However, the story extends beyond mere detection; quantifying this mutation is pivotal for patient management and prognostication.

The implications are significant: a higher VAF of the JAK2 V617F mutation correlates with a more aggressive disease course, including intensified symptoms in PV, an elevated risk of serious blood clots in ET, and accelerated progression in PMF. This insight shifts the focus towards a more refined, personalised approach to cancer treatment, where the mutation’s quantity may unlock the potential for more effective, targeted therapies.

The role of dPCR and NGS in advancing diagnosis

Traditionally, allele-specific qPCR has been the benchmark for measuring JAK2 V617F mutation levels, praised for its sensitivity and specificity. It has allowed clinicians to both detect and quantify mutations, informing therapeutic strategies. Enter dPCR, an innovative technology set to revolutionise this standard. dPCR excels in providing absolute quantification of the JAK2 V617F mutation without the need for standard curves, offering unmatched precision in assessing mutation load. The benefits are considerable, providing a clearer pathway for therapeutic decision-making.

Comparative studies affirm the high concordance between qPCR and dPCR, reinforcing confidence in the accuracy of these methods. dPCR’s precision is transformative, enabling precise measurement of mutation levels and potentially revolutionising patient care. Beyond this precision, the integration of next-generation sequencing (NGS) into diagnostic practices expands the horizon. NGS doesn’t merely assess the JAK2 V617F mutation but provides a comprehensive view of the genetic landscape, revealing a range of mutations that could affect disease progression and treatment response. This broadened perspective marks a new chapter in personalised medicine, where treatment can be customised to each patient’s unique genetic profile.

A new paradigm in MPN management

As we find ourselves at this crossroads, the amalgamation of dPCR, NGS, and conventional diagnostic approaches is forging a new standard in MPN management. This represents not merely progress but a significant leap towards a future where treatment is not only targeted but also transformative. The implications are vast, heralding a new era in cancer treatment where precision in diagnosis and treatment personalisation converge, offering hope to those facing these daunting diseases. In this evolving field, the promise of improved patient outcomes and quality of life is not just a hopeful prospect—it is an imminent reality, signalling a new dawn in cancer care.

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maisha-online · 6 months

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The Essential Role of Cylicins in Sperm Development and Fertility

Sperm development, known as spermiogenesis, is a complex process involving various stages and intricate structural changes. Recent research has shed light on the crucial role of Cylicins in spermiogenesis and male fertility in both mice and humans. Cylicins, specifically Cylicin 1 (Cylc1) and Cylicin 2 (Cylc2), are essential components of the perinuclear theca (PT), a critical part of the sperm…

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kstarvibes · 9 months

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The second season of the anime series ‘Kizuna no Allele’ hits screens on TV Tokyo, Tv Osaka and TV Aichi on Wednesday October 4th, 2023. The 3rd main graphic for the series has also been released!

I’m Going All In, to Become the Me I Want to Be New Information Revealed Hitting screens on October 4th on TV Tokyo, TV Osaka and TV Aichi! Coming to Animax on October 14th! The 3rd main graphic has also been unveiled! A marathon of the first season will be shown on Animax on Sunday October 1st from 1P.M. Info on the Second Season of ‘Kizuna no Alelle’ Has Been Released! The long awaited…

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#3rd #4th #Aichi #Allele #Anime #graphic #hits #Kizuna #Main #October #Osaka #Released #screens #Season #Series #Tokyo #Wednesday

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weeblmaodotcom · 1 year

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[Kizuna no Allele] without context , Meme by Weeblmao.com

#Allele #Animewithoutcontext #Animewithoutcontextmeme #Animenocontext #Animenocontextmeme #context #Kizuna

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conflagrate · 1 year

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Kizuna no Allele 01

I checked this out to see how much it would offend me and Holy AI mofo LOL. I wanna smash every TV screen in sight right now wwww

#allele

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atikaschools · 1 year

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Allele refers to alternative form of a gene which occupy the cell loci which control the same characteristic RELATED QUESTIONS

#allele

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healthinnovations · 2 years

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Researchers identify long non-coding RNA which modulates colorectal cancer metabolism.

Researchers identify long non-coding RNA which modulates colorectal cancer metabolism. Thoughts health innovators?

Long non-coding RNAs (lncRNA) are unusual in that they don’t encode proteins like normal RNA. Yet they do play a role in regulating cellular functions and interest cancer researchers. Now, researchers at The MD Anderson Cancer Center have found that a specific lncRNA called CCAT2 regulates cancer metabolism both in vivo and in vitro. The data was presented at the 2015 American Association for…

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#allele #biology #cancer #CCAT2 #coding #colon #colorectal #gene #genetics #healthinnovations #lncRNA #Long #medical #metabolism #non #nutrient #RNA #RNAs #science

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don-lichterman · 2 years

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Increased docosahexaenoic acid intake may lower risk for Alzheimer’s and dementia

Several studies have shown that dietary factors, particularly the consumption of products containing docosahexaenoic acid (22:6n−3, DHA), influence the risks associated with Alzheimer’s disease (AD). Furthermore, DHA has also been shown to reduce the risk of various AD-related occurrences, such as brain glucose hypometabolism, aggregations of the amyloid-beta peptide into fibrils and oligomers,…

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rooolt · 7 days

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I think there’s something so fascinatingly flawed about alexandrite’s ideology that really makes the story of c3 so perfect to me. Bc alexandrite claims the only way to evolve is to become one monotonous network that is perfect, but in actuality the very basis of evolution is variation within a population. Without the “imperfections” or the things that make a species diverse, they’re much more susceptible to total extinction, but alexandrite doesn’t understand that because she’s a machine and machines have constantly been optimized and pushed forward until previous ones were made obsolete. Her ideology is fundamentally flawed because she is applying it to a world in which the same rules do not apply, and duck team are those imperfections and those mutations within the population that was mothership and they are what is allowing the species to grow and live on

#Shaking so hard trying not to use the phrase “change in allele frequency” in this #Does this make sense it’s 10 pm and I took a bio final three days ago #N e ways c3 e60 good #naddpod #not another dnd podcast #ba2mia

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omg-snakes · 18 days

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Apollo II is ready for takeoff.

As much as I have enjoyed watching this doof grow from a gangly little weirdo into a limbless Adonis, I just... I don't have the energy to deal with yet another allelic gene and the dude is Ultramel Ice instead of Hypo Ice as I'd hoped. I've had such rotten luck with the Ice morph already anyway that I'm throwing in the towel and focusing my energy in a more productive direction.

I hope that someone will scoop him up and treasure him, because he really is a lovely guy.

#Best Donut is going too #no ultramel in my breeding projects please #I already have Strawberry/Hypo and Motley/Stripe #I can't take another allelic gene #Apollo II #snake #snakes #reptile #reptiles #reptiblr #corn snake #corn snakes #ultramel ice corn snake #ultramel lava anery corn snake

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chaotictoon · 3 months

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Ḥ̶̙́̈́͋̅̔͗̂a̷̛̠͎̤͒͋́͗͜Cķ̴̰͚̹̤͐ẻ̴͕̈̋R

Iconic Cyberpunk Hacker Girls

#cyperpunk #cyberpunk #technology #hacker girls #tsugumi #tsugumi guilty crown #guilty crown #sombra #overwatch #sombra overwatch #peni parker #into the spider verse #Cyberpunk: Edgerunners #Lucyna Kushinada #Lucy #winx #techna #winx tecna #kizuna no allele

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hothotmiso · 4 months

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#kizuna no allele #絆のアリル #3DM8 ximena #3DM8 sofia #my gif

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mrehkka · 2 months

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Dib meets one of the tallest in person and uh... is actually rather awed. He kinda gets it now. Zim is like "see?! the tallest are great!"

The story that goes with this is that Dib becomes ill, but oddly, with a somewhat rare Irken disease (stemming from a long term complication from when Zim's PAK attached to him way back when, it messed with something internally in Dib's body). So Zim takes Dib along with him to meet Red, to get Dib some Irken medicine/cure. Red has a huge crush on Zim so he tends to give him whatever he asks for (or gives him SOMETHING anyway, if he can't give him what he wants), and Zim knows this, although maybe a little in denial about the actual crush part.

aka: the "Dib gets to visit Irk and experience a bunch of Irken Culture" fic :D