Pharmacology - PHARMACOGENOMICS (MADE EASY)

0:01 [Music] welcome to another speed pharmacology video today we're diving into pharmacogenomics a groundbreaking field where medications are tailored to your unique genetic profile reducing side effects and optimizing Effectiveness while it may sound like science fiction pharmacogenomics is very real and transforming modern medicine this fascinating discipline Bridges Gene ICS and pharmacology uncovering how genetic variations shape individual responses to medications by replacing the one siiz fits-all approach it's Paving the way for precision medicine tailored to each patient's biology in this video we'll explore how

0:49 genetic variability impacts drug metabolism efficacy and safety and see how these insights are revolutionizing Fields like oncology Cardiology and Psychiatry let's get started to understand pharmacogenomics we first need to briefly discuss how medications work in our body after we take a drug whether it's a pill an injection or another form it doesn't just go straight to work instead it goes through a series of steps to be absorbed distributed metabolized and eventually eliminated we call this the adme process C absorption distribution metabolism and

1:35 elimination now metabolism is where things get really interesting and where genetics plays a huge role metabolism is primarily handled by enzymes in your liver especially a group called cytochrome p450 enzymes or sip enzymes for short these enzymes break down drugs so your body can use them effectively or prepare them for elimination here's the catch though not everyone's enzymes work at the same speed some people have fast metabolizing enzymes breaking down drugs so quickly that the medication doesn't stay in their system long enough to work others have slow metabolizing enzymes which can

2:21 lead to a buildup of the drug increasing the risk of side effects or toxicity these differences are often due to genetic variations or polymorphisms in the genes that code for these enzymes but metabolism isn't just about enzymes transport proteins like pglycoprotein help drugs move in and out of cells and their activity can also vary based on your genes even receptors the proteins that drugs Target can differ genetically changing how your body responds to the medication all of this explains why two people can take the same dose of the same drug but have completely different outcomes and here's where

3:06 pharmacogenomics comes in by identifying these genetic variations we can predict how someone is likely to respond to a medication now let's look at some realworld examples of pharmacogenomics in action these breakthroughs are transforming how we treat everything from cancer to depression and they're just the beginning let's start with one of the most impactful areas oncology cancer treatments are notoriously challenging because every tumor and every patient is different pharmacogenomics allows doctors to tailor treatments based on a patient's genetic profile and the specific mutations in their tumor for example in

3:53 her two positive breast cancer the her two protein is overexpressed leading to Rapid tumor growth and division targeted therapies like trastuzamab work by binding to her two receptors blocking their signals and slowing cancer progression however these drugs are only effective if the tumor overexpresses her to genetic testing can identify whether a patient is a good candidate for this therapy improving outcomes and avoiding unnecessary treatments another critical example in oncology is the use of imatin nib for chronic myoid leukemia CML is driven by the BCR abl Fusion Gene which produces a persistently active BCR abl tyrosine

4:40 kinas continuously signaling cells to proliferate uncontrollably this kinase binds both ATP and substrate proteins containing tyrosine residues allowing it to transfer phosphate groups and activate Pathways that drive unchecked cell growth imatinib works by competitively binding to the ATP binding site of BCR abl preventing phosphorilation of its substrate proteins and effectively shutting down the abnormal signaling Cascade thus restoring normal blood cell production by identifying this genetic abnormality through genetic testing doctors can precisely prescribe imatinib increasing the likelihood of successful treatment while minimizing harm to

5:27 healthy cells but but pharmacogenomics isn't limited to cancer let's talk about pain management one classic example involves the drug Codine a common painkiller the CP 2d6 enzyme converts Codine into its active form morphine people with a certain variation in the CP 2d6 Gene May convert Codine too quickly or too slowly fast metabolizers may experience side effects like excessive drowsiness while slow metabolizers may not get any pain relief at all knowing a patient's sip 2d6 status can help doctors choose a more effective and safer alternative now let's shift to mental

6:14 health anti-depressants like selective serotonin reuptake Inhibitors or ssris are life-saving for many but they don't work for everyone variance in slc6 A4 which encodes the serotonin transporter affect how well ssris and other serotonin targeting medications work by influencing serotonin reuptake in the synaptic space the 5httlpr polymorphism in this Gene has two main forms s short and L long alals which impact serotonin transporter expression and serotonin availability individuals with the SS variant have lower transporter expression leading to reduced serotonin

7:01 reuptake and more serotonin in the synapse but they often respond less effectively to ssris those with the LL variant have higher transporter expression allowing for faster serotonin reuptake but typically respond better to ssris these genetic differences help explain variability in anti-depressant Effectiveness and can guide personalized treatment choices similarly the CP 2 c19 Gene contains instructions for making the CP 2 c19 enzyme which metabolizes ssris like Citalopram patients with certain genetic profiles may need a higher or lower dose to achieve the same effect or might do

7:48 better on a completely different medication pharmacogenomics is also making strides in cardiology take cigil a blood thinner often prescribed to prevent strokes and heart attacks the effectiveness of chigrl also depends on the CP 2 c19 enzyme in this particular case to activate the drug some patients have a variation in this enzyme that leaves the drug ineffective putting them at risk for dangerous blood clots with genetic testing doctors can identify these patients and prescribe alternative treatments like tagor or prasugrel pharmacogenomics has also proven invaluable in treating epilepsy the drug carbamazapine is commonly used

8:35 to manage seizures but it carries a risk of severe skin reactions like stev Johnson syndrome in patients with a specific genetic variant in the HB Gene particularly H lab2 genetic screening can identify at risk individuals preventing these potentially life-threatening side effects in addition phac genomics is influencing the field of infectious diseases for example a back ofir an anti-retroviral drug used to treat HIV can cause severe hypers sensitivity reactions in individuals with the H laab 571 Gene variant genetic testing ensures that only patients without this variant

9:21 are prescribed the drug improving safety and adherence as you can see pharmacogenomics isn't just about Theory it's already changing lives by integrating genetic testing into clinical practice we can reduce trial and error prescribing minimize side effects and improve outcomes now that we've seen pharmacogenomics in action let's explore its future directions as pharmacogenomics continues to evolve it's clear that emerging Technologies are Paving the way for a more precise approach to medicine one of the most transformative of these Technologies is artificial intelligence or ai ai is enabling the analysis of vast and

10:07 complex genetic data sets something traditional methods simply can't achieve at the same scale or speed AI is being used in several key areas of pharmacogenomics for instance machine learning models can predict how a patient will respond to a specific medication based on their genetic profile enabling more accurate and personalized treatments it also plays a critical role in identifying patients at risk of adverse drug reactions potentially saving lives and reducing health care costs moreover AI accelerates drug Discovery by suggesting new targets based on genetic markers and integrating vast amounts of clinical environmental and genetic data to

10:54 provide a comprehensive understanding of drug efficacy and safety while DNA provides the blueprint for our body's functions RNA and epigenetic changes add extra layers of Regulation that influence how we respond to medications scientists are now exploring these factors to develop more personalized drug treatments RNA translates DNA's instructions into proteins determining how much of a specific protein is produced and affecting how drugs interact with the body unlike messenger RNA non-coding rnas such as micro rnas do not code for proteins instead they regulate gene expression by binding to mRNA and

11:41 inhibiting translation or promoting mRNA degradation thereby indirectly affecting how drugs are processed and metabolized researchers are studying these RNA markers to predict how patients might respond to treatments particularly in cancer now epigenetics which involves modifications that affect gene expression without altering DNA adds another layer of complexity DNA methylation for example can silence genes involved in drug metabolism while histone modifications can alter how accessible genes are for transcription as we delve further into the future of pharmacogenomics another exciting area

12:26 of research is the role of the microbiome did you know the trillions of microorganisms in your gut collectively known as the microbiome can influence how your body processes medications this growing field called pharmacomicrobiomics explores the interplay between your genetic makeup and your microbiome gut microbes produce enzymes that can activate deactivate or modify drugs in the human body for example some bacteria can accumulate or bind medications such as duotine altering their availability and potential side effects While others can convert a prodrug like doxifluridine into its active form five fluo uracil through de

13:13 glycosilation impacting drug efficacy and toxicity these processes underscore how the microbiome can influence both a Drug's Effectiveness and toxicity scientists have discovered that variations in host genes affect which microbes thrive in the gut creating a dynamic interplay between human genetics and microbiome composition at the same time the microbiome can change how host genes involved in drug responses are expressed further shaping individual reactions to treatment to harness this knowledge researchers are exploring strategies like probiotics and feal microbiota transplants to optimize drug responses

13:58 in imagine a future where doctors tailor treatments based not only on your genetic profile but also on the specific bacteria in your gut this exciting field highlights the close partnership between our bodies and their microscopic inhabitants opening new possibilities for personalized medicine so in conclusion pharmacogenomics is Paving the way for a new era of medicine one that's as unique as your genetic makeup by understanding the role of genetics epigenetics RNA and even the microbiome we're moving toward treatments that are more effective safer and tailored to the individual with cuttingedge Technologies like Ai and

14:45 microbiome research driving these advancements the promise of personalized medicine is no longer a distant dream but an emerging reality this transformative field is not just about science it's about creating a future where healthc care is precise proactive and uniquely designed for you and with that I wanted to thank you for watching I hope you enjoyed this presentation and as always stay tuned for more