Medical conundrums explored.
Facts
Bet you didn't know this!
New Cancer Gene
Previously, the only responsible genes for breast cancer used to be BRCA1 and BRCA2 mutations.
However, recent studies have shown that hereditary breast cancer risk assessment needs to go beyond these and also include genes like PALB2. It has now become the third most important breast cancer gene
Bring out the duster!
An average human can expect to inhale about 20 kilograms of dust over a lifetime
A New Therapy
With the discovery of ex vivo gene therapy patients with Hemoglobinopathies, like sickle cell disease, and Beta-thalassemia have a chance at a better standard of living. The strategies of this therapy aim at either reestablishing normal beta-globin chain synthesis or at re-activating fetal gamma-globin chain and HbF expression. they are currently in clinical development.
​Lost your tail??
Do you ever wonder how we lost our tails? Its the result of a mutation in the gene TBXT. However, researchers have confirmed that it might not be the only reason we grow a coccyx instead of a tail.....
Alzheimer's Detection!
Researchers have found a way to detect Alzheimer's through a simple and inexpensive blood test. C2N test, called PrecivityAD, uses mass spectrometry to detect specific types of beta-amyloid which is a protein fragment that stands as evidence for this disease. Beta-amyloid proteins form plaque in the brain, when it increases the levels of beta-amyloid decline in the surrounding fluid. These changes can be measured in spinal fluid samples and now in blood samples, where beta-amyloid concentrations are significantly lower.
New Pacemakers
Newly discovered smart pacemakers have proven to be more beneficial compared to the old ones. The traditional pacemakers' constant stimulation increases a person's risk of one of the bradycardia's common complications, a rapid and irregular beating of the heart's upper chambers known as atrial fibrillation, which is not the case for smart pacemakers. The patients provided with smart pacemakers also reported that they felt less fatigue and enjoyed a better quality of life.
Cystic Fibrosis
Cystic Fibrosis is a disease that severely damages important organs in our bodies. Previously, available treatments for this disease were mainly supportive and targeted toward end-organ effects in the lungs, sinuses, digestive tract, and elsewhere. With the development of Elexacaftor-tezacaftor-ivacaftor an oral combination 'modulator' drug that specifically targets the predominant CF mutation, the morbidity and mortality commonly associated with CF is likely to change significantly.
Fruit Flies Helpers?
Researchers have discovered new types of neurones that help in navigation by analysing the connectome of a small part of a fruit fly brain. Understanding the basic neural circuitry of an insect might help us understand the brain and behaviour of other mammalians and humans.
Traceable Cells?
Researches have discovered a new method called the barcoding method that marks each cell with a stamp that is passed on to all of the cell's progeny. This makes the cell's lineage traceable. This could helps us understand why patients who have white blood cell cancer called C.L.L relapse after treatment.
A New Era for migraine therapeutics!
Previously there were no medications available for migraines specifically. In 2018, new medications were developed to help head off migraine pain. The class of drugs work by blocking the activity of a molecule called calcitonin gene-related peptide (CGRP), which spikes during a migraine. Actively prescribed in 2020, this new FDA- approved class of medication is the first to be specifically designed for the preventative treatment of a migraine.
Bacteria in Pores?!
Your skin is home to thousands of bacteria. The mystery arises in not fully knowing the complexities of these bacteria and their links to the skin. Researchers examined various varieties of the cutibacterium acnes bacteria and found that each pore had many varieties of these bacteria residing in them. Using tools like nose strips and comedone extractors, they sequenced their DNA and identified them. This finding can take microbiome research to new heights and can be important in treating diseases.
Hyperthymesia!
The type of memory associated with HSAM may be called autobiographical memory or eidetic memory. People with this type of memory recall events, images, dates- even conversations- in minute detail. And they are able to summon these memories effortlessly. This trait can either by genetically inherited or acquired from experiences, ongoing researches will increase our understanding of this condition.
Possible H.I.V Cure?
Using a new transplant method involving umbilical cord blood, a woman of mixed race was completely cured of H.I.V, being the third person in history to be cured. Cord blood is more available than adult stem cells and is more effective than bone marrow transplants as it reduces the chance of rejection. This opens up the possibility of curing more people of diverse racial backgrounds!
New CRISPR Tools!
The original CRISPR-Cas9 system was developed as a tool to alter genomic sequences in living organisms in a simple way. However, new CRISPR-based tools have been developed with various functions to study disease mechanisms and cure genetic diseases. This can even be used in cardiovascular medicine to focus on reducing blood LDL-cholesterol levels by therapeutic genome editing.
Explaining the tendency in biology for structures to repeat themselves!
Symmetry runs rampant in nature. Researchers analysed thousands of protein complexes and RNA structures as well as a model network of molecules that control how genes switch on and off. They found that evolution tends toward symmetry because the instructions to produce symmetry are easier to embed in genetic code and follow. Over the next decade, the researchers and their team applied that same concept to basic biological components, looking at how proteins assemble into clusters and how RNA folds.
A paralysed patient communicates?!
The patient had been diagnosed with ALS and was in a locked-in state entirely unable to communicate. Through Dr. Ujwal Chaudhary’s experiment, the man had learned to select — not directly with his eyes but by imagining his eyes moving — individual letters from the steady stream that the computer spoke aloud. This breakthrough, although an experiment approach, is revolutionary in improving millions of lives!
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