In medical terms mutations are often viewed through a negative lens, as an occurrence that mostly leads to higher disease susceptibility or causes a disease itself. But what about mutations that protect us from infections or disable a gene that plays a role in chronic disease development?
Category: Understanding Science
Flashback to September 3, 1928. On an ordinary autumnal morning in foggy London, Alexander Fleming is returning to the Laboratory of St. Mary’s Hospital, ready to tackle the tasks he left before going on holiday. Firstly, quick and easy one- sorting the petri dishes, with, well, as Fleming thought, probably nothing interesting in them, just a bunch of life- threatening strains of bacteria that are currently killing millions of children and adults across the globe. But he was wrong, today was the day for “Eureka!”. On one dish was something unusual- it was dotted with colonies of growing bacteria, save for the one area where a blob of mold was growing. The zone immediately around the mold was clear, as if the mold had secreted something that inhibited bacterial growth. Today, we know that the mold was a rare strain of Penicillium notatum that secreted penicillin, very unstable substance at first, but many optimisations later, one of the greatest discoveries and advances in therapeutic medicine. The dawn of antibiotic era has begun.
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The Orphanage
Every year, an estimated 1 billion people worldwide are infected by seasonal influenza. In 1980 there were 50 000 reported cases of polio. One of the most infectious diseases of all time was mumps – up to 726 cases per population of 100 000 yearly have been detected around the globe. Unlike such highly contagious diseases, throughout history humankind has faced much rarer diseases, ones we don’t hear much about.
The most prescribed drug in the world is atorvastatin (the inhibitor of cholesterol production in the liver, used to lower blood cholesterol levels). However, the most prescribed group of drugs are benzodiazepines. Behind the elegant and “clean” chemical structure of three rings – benzene, diazepine and phenyl ring lays a group of drugs so powerful and potentially harmful, and yet… so safe. Their list of indications is amongst the longest of all drugs, but they are also known as most commonly used drugs without doctors’ prescription. Not only are they being sold in the streets and on the black market, but they are also shared with friends and family as a “help” to get through a stressed or hard period in one’s life. What’s worse, because of their clinical efficiency when used properly, even doctors often prescribe them for minor problems and in the wrong dosages, or for too long of a time period. Although there are many positive sides of benzodiazepines and they can be extremely useful for many patients, which we will talk about in a minute, there is also a great risk attached to them, which not so many people are aware of. But let’s start from the beginning – how do they work?
On the 25th of April, the World Malaria Day 2022 took place. This year’s theme was “Harness innovation to reduce the malaria disease burden and save lives“, since the main goal of the World Health Organization (WHO) was to highlight the necessity of research and development for new therapeutic strategies to eradicate the disease. Today, malaria is entirely preventable and curable disease if the symptoms are recognized in earlier stages, but in some cases, it is unfortunately not possible. Therefore, the estimated number of new cases in 2020 was 241 million, and within that number there were 627 thousand malaria-related deaths in 85 countries. The region at highest risk is the sub-Saharan Africa, where more than two thirds of deaths were reported among the children under the age of 5. Despite the promising and steady advances in controlling the disease between 2000 and 2015, in recent years there was an evident set-back especially in the number of preventable deaths. What are the causes of this stagnation and what can be done to prevent the spread of this highly contagious disease?
“Our primary mission is life critical. Our goal is very clear: to address the gross inequities in child health still existing in the world today. Life or death for a young child too often depends on whether he is born in a country where vaccines are available or not.”
Nelson Mandela, addressing the Vaccine Fund Board 2003 meeting in Johannesburg
The last topic in the series on medical research and clinical trials is related to studies on vaccines and, what better example to explain vaccines research than the recent Covid-19 pandemic. Similar to pharmaceutical products, vaccines trials occur in 3-4 phases (Phase I-III pre-marketing authorization and Phase IV after the vaccine is licensed).
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HIV – a hero?
Several studies conducted in the 90’s suggested that prevalence of HIV infection was smaller in patients with sickle cell anemia than in healthy individuals. Although the mechanism behind that is still not fully understood, today we know a lot more than we did back at the end of the century. In order to understand the connection between sickle cell anemia and HIV infection, let us first take a look at both of them separately.
Friedrich’a ataxia (FA) is a progressive neurodegenerative disease that affects 1 in every 50 000 people worldwide. Therefore, it falls under the umbrella of rare diseases. The thing with rare diseases is that it’s hard to get funding for researching their pathophysiology and possible therapies (ergo the name “orphan drugs”). However, with the recent rise of gene therapy, more and more private investors put their money towards finding a cure for 1 in 50 000 people. So don’t be misled by the title of this article – FA is still a rare disease, but its popularity among research groups and institutes has been growing for the past few years. The main reason for such blooming is the emerging field of gene therapy.
What is a clinical trial and how (why) does it work?
A clinical trial is a study conducted on human volunteers to investigate a variety of questions on a treatment/intervention tested:
- is the treatment/intervention safe?
- does the treatment/intervention work?
- does the treatment/intervention work better than what is already available (if there is a similar treatment/intervention)?
“There are no such things as incurable, there are only things for which man has not found a cure.”
Bernard Baruch, 30 April 1954
What is medical research?
Medical (biomedical) research, sometimes referred to as experimental medicine, comprises different types of research, from basic, to clinical, applied research. Different scientific fields are usually included and range from biology, medicine, physics, computational science, mathematics, chemistry, and pharmacology. The overarching intention of such research is to improve human health and well-being.