Explore Fascinating Genetics: Uncovering Rare Diseases

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The discussion focuses on finding an interesting genetic condition for a genetics class project, emphasizing the need for a less common and less morbid example than typical conditions like Turner Syndrome or Down Syndrome. Suggestions include Sickle Cell Anemia, which is noted for its balancing adaptation, as well as narcolepsy and color blindness. Albinism is also mentioned as a potential topic, being classified more as a condition than a disease due to its mild nature, yet it still fits the criteria of a genetic disorder. The requirement for the condition to be listed in the Online Mendelian Inheritance of Man (OMIM) is acknowledged, ensuring that the chosen topic is scientifically recognized.
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I know this may sound a tad morbid, but I need an interesting genetic disease that I can write about (mode of inheritance, physiology, treatment, etc) for my intro to genetics class. There are the obvious one's (Turner Syndrome, Down Syndrome, etc), but I was looking for something less common and maybe more interesting (and hopefully less depressing, is there any genetic "disease" with a good effect out there?)

Oh and it needs to be listed in teh Online Mendellian Inheritance of Man (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM) , but I think everything you can thing of is probably listed there.
 
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SIckle Cell Anemia? Standard example of balancing adaptation.
 
Any more ideas? I was leaning towards narcolepsy or color blindness...
 
How about Albinism? Not as debilitating, so not as morbid to write about. Don't think it is generally reffered to as a "disease", but rather a "condition", (due to its relatively benign nature), but technichally, it is a disease; just a very mild and non-threatening one.
 
https://www.discovermagazine.com/the-deadliest-spider-in-the-world-ends-lives-in-hours-but-its-venom-may-inspire-medical-miracles-48107 https://en.wikipedia.org/wiki/Versutoxin#Mechanism_behind_Neurotoxic_Properties https://www.sciencedirect.com/science/article/abs/pii/S0028390817301557 (subscription or purchase requred) he structure of versutoxin (δ-atracotoxin-Hv1) provides insights into the binding of site 3 neurotoxins to the voltage-gated sodium channel...
Popular article referring to the BA.2 variant: Popular article: (many words, little data) https://www.cnn.com/2022/02/17/health/ba-2-covid-severity/index.html Preprint article referring to the BA.2 variant: Preprint article: (At 52 pages, too many words!) https://www.biorxiv.org/content/10.1101/2022.02.14.480335v1.full.pdf [edited 1hr. after posting: Added preprint Abstract] Cheers, Tom
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