#genetic diseases | Explore Tumblr Posts and Blogs

tombraiderrocker · 6 months

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I made a very niche meme to help me cope

#rare disease #genetic disorders #genetic diseases #chronic pain #spoonie #chronically ill #invisable disability #disabled #physically disabled #disability #chronic illness

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cbirt · 7 months

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Google’s DeepMind scientists have made a monumental stride with the inception of AlphaMissense, an AI tool that can pinpoint genes responsible for diseases. This move signals substantial progress in gene research and potentially transforms how rare genetic disorders are detected. The state-of-the-art capacities of AlphaMissense gear towards improving our grasp on intricate genetic changes, thus guiding us towards more exact diagnoses and tailored treatments. With this groundbreaking technology now unveiled, we’ve reached a crucial juncture in demystifying the enigma around genetic disorders.

What is a Missense Variant?

A missense variant is a single DNA letter alteration that causes the translation of a protein to contain a different amino acid. The function of the protein might be impacted, and illnesses can occur. Missense variations must be acknowledged and classified in order to understand their impact on human health and disease. The categorization of missense mutations is greatly improved by AlphaMissense, revealing their probable pathogenicity. Pathogenic missense variations can severely impair protein function, which has an effect on the organism’s overall fitness. Nevertheless, only a small portion of these missense variations have been categorically determined to be harmful or benign. A significant difficulty in human genetics continues to be the classification of the remaining variations with unclear relevance.

#bioinformatics #genetic diseases #alphafold #alphamissense #AI #health

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red-arrowe · 9 months

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Most of you haven't ever experienced a chronic, multifaceted, life threatening, incurable illness and it shows.

#celiac #chronic illness #sick #gallbladder #allergies #autoimmune #autoimmune disease #genetics #genetic diseases #celiac disease #dont call it celiacs

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thedisabilitybookarchive · 4 months

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'Nothing Without Us'- Gordon, Cait. Johnson, Talia C.

Disability Rep: Multiple; Arthritis, Rheumatoid Arthritis, Deaf, Sign Language, Genetic Disease, Cane User, Mental Illness, Seizures, Multiple Sclerosis, Neurological Impairment, Bipolar, Spinal Injury, Chronic Pain, Walking/Mobility Impairment, Chemical Sensitivity, Neurodivergence, Physical Disability, Multiple Personality Disorder, Amputee

Genre: Multi-Genre; Speculative, Apocalyptic, Fantasy, Science-Fiction, Realistic, Contemporary, Horror,

Age: Young Adult, New Adult, Adult

Setting: Multiple- Possibly Canada

Additional Rep: Queer, Non-Binary, Neo-Pronouns, TBD

For more information on summaries, content warnings and additional tropes, see here:

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peejuul · 10 months

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kenyscouch · 1 year

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the pains of genetically inherited diseases

so basically, i found out about 2 years ago my mom has chrons. it didn’t seem super important, cause i had no idea what it really was. basically it means your stomach can be really sensitive to certain things and can cause you to have severe stomach aches, diarrhea, nausea, vomiting, etc.

Well earlier in 2022, my brother got hit with his first chrons-type reaction, and he lost a shit ton of weight (because occasionally with chrons/uc you get malabsorption where your body takes little to no nutrients from the food you eat) and he was throwing up and was really sick. that’s how he found out he had chrons.

Skipping ahead a few months, i was in italy on a trip with my family when i started to get severe stomach aches and nausea after eating meat, drinking milk, and sometimes even just plain old pasta. i was so goddamn confused. then i started to loose weight (which is weird for me because i don’t really gain or loose weight cause i’m generally fit). The stomach aches only got worse, i started throwing up after certain meals, and sometimes couldn’t eat from the fear of the pain.

that’s when everything clicked. basically, i found out i ALSO have chrons. so there are some things i can eat that won’t kill me, and others that will put me in bed for 2 days straight.

long story short, if your parents have hereditary disease, please don’t ignore the signs that you might have it as well.

also for those who might be worried about me, i’m fine, im still feeling out what i can and can’t eat (because it’s different for everyone) but generally i’m doing pretty great and am back to a normal healthy life.

#chronsdisease #uc #chrons #genetic diseases #pls guys be safe and don’t go through what i did #GET TESTED!!!#medical issues #malabsorption #stomach issues #not me originally thinking i was lactose intolerant and tried to stop drinking milk #only to have the same reaction to plain fucking pasta

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er-cryptid · 3 months

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Patreon

#studyblr #notes #genetics #genetics notes #autosomal recessive #autosomal recessive disorders #genetic disorders #pathology #pathophysiology #disease prevalence #epidemiology #epidemiology notes #genetic diseases #prevalence of genetic disorders #biochemistry #dna

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whats-in-a-sentence · 5 months

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To date, the most powerful restraint on the revival of eugenics has been nature itself. Single genes account for only a small fraction of human traits, disorders, and diseases. Like intelligence, most human characters are polygenic, and therefore are not even genetically understood, let alone subject to manipulation.

"In the Name of Eugenics: Genetics and the Uses of Human Heredity" - Daniel J. Kevles

#book quotes #in the name of eugenics #daniel j kevles #nonfiction #revival #eugenics #restraint #genes #genetics #human genetics #heredity #polygenic #genetic disorders #genetic diseases

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larryhappiday · 7 months

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Need for More Paternity Discrepancy Testing in Nigeria

Have you ever wondered how genetic testing can make a big difference in Nigeria? It can actually help us find diseases early on and give you the right treatment! That means you can have personalized healthcare just for you. Plus, it can also help reduce health differences between people, which is super important. Get Noorio Wireless Security Camera Easy to install without wiring. Paternal…

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#DNA testing #genetic analysis #genetic diseases #genetic diversity #mental health #Mobad #parentage confirmation

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kauveryblogs · 9 months

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#genetic diseases #inheritance disorders #healthcare blog #kauvery hospital #healthcare #healthy

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cbirt · 10 months

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Scientists from Georgia State University, The University of Texas, and Lawrence Berkeley National Laboratory, USA, built models of transcription factor IIH (TFIIH) using cryo-electron microscopy (cryo-EM) to comprehend how it smoothly transitions between performing two vital yet vastly different functions, transcription initiation and nucleotide excision repair (NER). They employed simulations and graph-theoretical analysis and found that its two subunits, XPB and XPD, mediate conformational changes in TFIIH, enabling it to switch between transcription initiation and NER while ensuring that it performs only one function at a time. Another key observation they made was that diseases caused by TFIIH mutations can be grouped into distinct classes based on the interfaces of the constituents of TFIIH they affect.

The Fascinating Dynamism of TFIIH

TFIIH is a large and dynamic horse-shoe-shaped protein assembly consisting of ten subunits. The subunits include seven core ones (XPB, XPD, p62, p52, p44, p34, p8) and three CDK-activating kinase subunits (CDK7, Cyclin-H, MAT1). TFIIH is imperative to both transcription (enzymatic synthesis of RNAs from DNA templates), preinitiation complex (PIC), and nucleotide excision repair (removal of wide arrays of DNA lesions occurring due to UV radiation, reactive oxygen species, environmental and chemical mutagens), also called NER.

In transcription, TFIIH is a part of the assembly responsible for unwinding the DNA duplex and pushing it toward the RNA polymerase active site. TFIIH is basically the centerpiece of NER, as it assembles, coordinates, and regulates the NER machinery. And defects in NER are strongly associated with human genetic diseases such as Cockayne Syndrome, Xeroderma Pigmentosum, etc.

#bioinformatics #dna #genetic diseases #structural biology

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astuteanalyticablog · 10 months

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How Can Gene Therapy Cure Genetic Diseases?

People’s health is significantly influenced by the genes in the cells of their bodies. Having one or more faulty genes can indeed cause disease. Because of this, researchers have spent decades figuring out how to alter genes or swap out unhealthy genes with healthy ones to treat, eradicate, or prevent illness. The study is paying dividends because modern advances in science and technology are altering how it defines the disease, creates medications, and recommends therapies.

A growing number of businesses are entering the industry. The US FDA anticipates receiving more than 200 new applications to start cell and gene therapy each year, supporting the continued increase. Thus, these factors drive market growth. In addition, according to a research report by Astute Analytica, the Global Gene Therapy Market is likely to grow at a compound annual growth rate (CAGR) of 24% over the projection period from 2023 to 2030.

How does gene therapy function?

Sometimes a gene is faulty or missing from birth in its entirety or part. This is commonly referred to as a mutation that is inherited genetically.

Additionally, throughout our lifetimes, healthy genes might alter (mutate). Exposure to the environment may be the cause of these acquired mutations. The good news is that most of these genetic alterations (mutations) do not result in illness. However, some inherited and acquired changes can result in cancer, neurological problems, and developmental issues.

Using gene therapy, doctors can choose from several options depending on what is wrong:

They can introduce genes to the body to assist treat sickness.

They can take the place of a gene that is defective or missing.

Or they could remove the problematic genes.

Scientists employ a “vector” to introduce new genes into cells directly. Vectors are genetically modified to deliver the required genes for curing the disease.

Cells inside or outside of the body can be modified using gene therapy. A physician will directly inject the vector containing the gene into the patient when gene therapy is utilized to alter cells within the body.

When using gene therapy to alter cells outside the body, medical professionals sort out particular cell types in a lab using bone marrow, blood, or another tissue. These cells are given the vector containing the desired gene. The patient is then given an injection of the cells, where the new gene is then used to achieve the desired outcome.

Interactions Between Genes and Cells

Cells and genes are closely linked. Our bodies’ cells contain thousands of genes that give instructions on how to generate particular proteins that contribute to the structure of the cells. The foundational units of all life are cells, and the human body is made up of billions of them.

The data that enables various cell behaviors are provided by the genes. The organs and tissues of the body, such as muscles, bones, and blood, are made up of large cell clusters. Every bodily function is supported by the organs and tissues in turn.

Content Source: – Gene Therapy Cure Genetic Diseases

#business #science #gene therapy #Genetic diseases #Cells #Genes #diseases #Astute Analytica #market report #market research #helathcare #Gene Therapy Market

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annasellheim · 1 month

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Next part- MRI shenanigans

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ahmed25646 · 2 years

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» Genetic diseases: more than 8 million euros raised for research during an exceptional charity sale MyPharma Editions

Posted on Wednesday, September 14, 2022 An exceptional auction of contemporary art and unique experiences was held at the Imagine Institute (AP-HP, Inserm, Université Paris Cité), the world’s leading center for research, care and education on diseases genetics located at the Necker-Enfants Malades Hospital AP-HP. The fourth edition of this Heroes for Imagine gala, created on the initiative of…

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#genetic diseases #Imagine Institute

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epochquart8 · 2 years

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Common Canine Diseases [newline]water Borne Illnesses

Applied to the eyes earlier than a Long Rest, one dose of it prevents the illness from worsening after that rest. After three doses, the ointment cures the illness completely. A beast or Humanoid that drinks water tainted by sight rot must succeed on a DC 15 Constitution saving throw or become infected. https://supplementlegend.com/herpagreens-review/ after infection, the creature’s vision starts to become blurry. The creature takes a −1 penalty to Attack rolls and Ability Checks that depend on sight. It happens when a diverticulum erodes into the penetrating artery at its base . Because acute inflammation is absent, patients with diverticular bleeding do not have ache or fever. Patients with abscesses are usually sicker than those with uncomplicated diverticulitis, they usually have larger temperatures, more ache, and better white blood cell counts. Treatment includes antibiotics and bowel rest, but it also requires drainage of the abscess. [newline]In many cases, specially educated interventional radiologists can accomplish that by utilizing CT imagery to guide a skinny plastic catheter via the skin into the abscess, allowing the pus to empty out. In most instances, the catheter stays in place for a number of days or until the drainage stops, whereas the affected person continues to receive antibiotics and fluids. An abscess is a walled-off assortment of bacteria and white blood cells — pus. When pruning, ensure cuts are 2 to 3 toes under the contaminated area. When the tree is severely affected, it should be destroyed to protect nearby wholesome timber from infection. A number of childhood illnesses cause rickets, a condition that results from a delay in depositing calcium phosphate mineral in rising bones, thus leading to skeletal deformities, particularly bowed legs. In adults, the equivalent disease known as osteomalacia. Even when there is no fracture, many patients with rickets and osteomalacia undergo from bone pain and might expertise extreme muscle weakness. Adults who have sickle cell disease can also expertise episodes of extreme anemia, however these usually produce other causes. Babies and newborns who've extreme anemia may not wish to eat and could seem very sluggish. Priapism is an unwanted, sometimes prolonged, painful erection. Dinethra Menon is a medical and science writer with over a decade of experience speaking and writing medical education for doctors. She has a Bachelor of Science from the University of Melbourne and a postgraduate diploma in genetic counseling. [newline]Connect with her on LinkedIn, observe her on Twitter - @dinethra_menon or try her Facebook page, Living With Hereditary Disease. The AMA Style Insider offered a complete overview of the origins of disease, situation and disorder which you'll learn right here. Medical syndromes can be caused by genetic mutations or other components. A syndrome is a time period that refers to a disease or a disorder that has a couple of identifying feature or symptom. Transmission from person to person, ripe eggs passed out in faeces, an infection affected by swallowing ripe Ascaris eggs with uncooked greens.

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guitarcello52 · 2 years

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Widespread Names Of Plant Illnesses

CD8+ T cells from controls or patients with acute infectious mononucleosis or FHL2 don't present EBER-1 positivity. NHLBI-supported analysis on asthma has led to more and higher remedy and prevention options. In Beyond Simplex Reviews , sufferers might develop benign COPD-type diseases and malignant cancers. Anyone who has been uncovered to asbestos ought to take part in common screenings for the rest of their life to make sure well timed diagnosis of all pulmonary and asbestos-related circumstances. Once bacteria enter the body, a healthy immune system will acknowledge the bacteria as overseas invaders and try to kill or stop the bacteria from reproducing. However, even in a healthy particular person, the physique isn't always able to stop the micro organism from multiplying and spreading. These vaccines often shield sufferers from several sorts of flu, including swine . Like yellow fever, it's transmitted through the chunk of the Aedes Aegypti fly. It feeds on the blood of a person contaminated and then passes the virus to a wholesome person through his sting. To diseases brought on by viruses, they're often recognized as ailments or viral infections. It causes your physique to not ship enough blood to the arms and ft for a time period. It is a disease where the immune system attacks wholesome cells in the prime layer of pores and skin, leading to blisters. Your childhood and teenage years are a prime time to study habits that may assist you to hold your bones, joints, muscle tissue, and pores and skin healthy for years to come back. These embody Tobacco mosaic virus and its family members, in addition to Hosta virus X. Many viruses are transmitted by arthropods, corresponding to aphids, thrips, whiteflies, leafhoppers, and eriophyid mites. These insects and mites are known as vectors of the virus. For instance, thrips are the vector of Tomato noticed wilt virus.

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