The Check Up – Fixing DNA, Body Clocks, and Cuddly Grandpas

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  Last updated October 12, 2017 at 2:27 pm

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The Check Up is a weekly feature highlighting some of the best, most fascinating, most important, or simply unmissable health, medical, and human stories from around the web. This week, guest contributor Geetanjali Rangnekar takes over!


Chop and Change


Chinese researchers have genetically edited a single component of our three billion ‘letter’ genetic code, leading to a potentially ground breaking way for tackling a common blood disorder called beta-thalassemia. This condition reduces an individual’s capacity to produce haemoglobin, the molecule that enables our red blood cells to transport oxygen to the cells of our body. This causes anaemia and leaves the sufferer exhausted and out of breath.


This disease has a genetic basis, as it’s caused by an erroneous DNA base pair. Base pairs are of four types (adenine, thiamine, guanine and cytosine), and essentially carry the instructions for the working of our human machine that is encoded in our DNA. In this research, ‘chemical surgery’ was performed on the one culprit base pair, which causes beta-thalassemia, removing it and replacing it with the correct one. This was carried out in human embryos developed by cloning and using tissues obtained from an individual with beta-thalassemia. Of course, due to strict ethical and social considerations and restrictions on the use of genetically modified human embryos, the ones used in this experiments were not implanted.


This world-first research from scientists at Sun Yatsen University may be cause for hope, given current treatments for this condition entail undergoing painful bone marrow transplants or constant blood transfusions. In fact, it could herald new, targeted treatments for a lot of human diseases that are caused by similar point mutations.


Conquering the Clock


I know I’m not the only one who has suffered from the dreaded effects of jet lag. Thanks to the large body of work done by three American scientists – Jeffery C. Hall, Michael Rosbash and Michael W. Young – we know so much about our internal body clocks, or circadian rhythms and why getting off a plane halfway around the world leaves us feeling like we’ve been hit by a Mack truck. So, it’s fantastic to see that these brilliant minds were jointly awarded the 2017 Nobel Prize in Physiology and Medicine.


Using the fruit fly as a model, these scientists isolated the various genes that code for proteins that play a vital role in varying and maintaining our circadian rhythm. They found out that key proteins accumulate in cells during the day and then decline during the night, affecting important functions such as metabolism, sleep, and behaviour. Similar patterns were also discovered in plants and other animals, and found that they are tied to the Earth’s revolution. Misalignments between our internal rhythm and our external environment are why we experience jet lag. What’s more interesting, is that when things go awry for prolonged periods, this can increase the risk of diseases like diabetes and certain cardiac ailments.


Homegrown Cancer Cure


Closer to home, researchers from Western Australia have developed a drug that helps bolster the body’s immune system and attack resistant tumours. These promising strides were demonstrated in models of pancreatic and lung cancer, which are some of the hardest to treat. Certain tumours build an impenetrable tangle of blood vessels, which stops the body’s army of white cells from attacking them. But this unnamed drug gets past this dilemma by helping the body’s immune system grow normal blood vessels and lymph-node-like structures and penetrate to the core of the cancer. This finding is key in the field of immunotherapy for cancer because no existing therapy boosts the immune response in the same two-fold manner; by creating new blood vessels and lymph nodes.


Cuddles in the ICU


To end with, here’s something that will give you the warm fuzzies.  Meet David Deutchman, the ex-marketing exec, who goes by ‘ICU grandpa’ these days. He volunteers at Children’s Healthcare of Atlanta hospital in the neonatal intensive care unit providing premature babies with much-needed care and cuddles when their mothers are in surgery or needed at home. The nurses think that this provides the premmies with more than comfort and warmth, helping them to grow up faster and put on much-needed weight!



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About the Author

Geetanjali Rangnekar
Geetanjali Rangnekar completed a PhD (Medicine) at the University of Adelaide, with a research background in cardiac physiology. She formally worked as a researcher and clinical trials co-ordinator, investigating heart rhythm disorders and managing various clinical trials. She is a freelance publication support expert, working with Cactus Communications and Crimson Interactive. She is transitioning from the ‘publish or perish’ world of research and delving into the wonderful and at times scary world of science communication/journalism. When she isn’t marvelling at the wonders of science, she is usually cooking up a storm, Netflixing and contributing to South Australia’s economy through her wine connoisseur-ism!

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