On novel gene therapy treatment for haemophilia, an AI-based platform to identify age-defying molecules, India’s first diabetes biobank and more
Technology is a many-splendoured thing, and in the field of medicine particularly, every innovation has taken it ahead by several leaps and bounds. It is technology and years of research that has led us up to this near miracle: Indian scientists develop novel gene therapy treatment for haemophilia. Jacob Koshy reported on a stunning development, results of a study conducted by researchers at Christian Medical College, Vellore, among patients with haemophilia in Tamil Nadu. With gene therapy five patients have not reported any bleeding episodes for over a year after testing the new treatment. Given that haemophilia is characterised by bleeding episodes, this seems nothing short of a cure, and though it is early days yet, the possibilities are tantalising.
The disease is a condition resulting from low levels of clotting factor — necessary to prevent bleeding — and treatment methodology is replacement therapy. This involves slowly dripping, or injecting into a vein, concentrates of clotting factor VIII (for haemophilia A) or clotting factor IX (for haemophilia B). Clotting-factor concentrates can be derived and manufactured from human blood. With gene therapy, only one such approved therapy (Roctavian, an adeno-associated virus) pre-exists the Vellore experiment. In gene therapy, copies of a ‘corrected’ gene are introduced into the cells of a patient, the idea being that this would result — in the case of haemophilia — in normal expression of the necessary clotting factor. Lentivirus is the vector, instead of an adenovirus. Because adenovirus infections are fairly common in people, the chances of having antibodies are fairly high and this could actually be counter-productive to those using treatments such as Roctavian. Lentivirus infections being less common, it is expected that fewer people will have antibiodies to them. For more details, read this explainer.
In yet another significant achievement for Indian science this past week, I reported on the AI-based platform that helps to identify age-defying molecules rapidly. Researchers at IIIT-Delhi have developed AgeXtend as a tool to efficiently cut down the time taken to identify viable molecules with geroprotectors, or age defying properties, through conventional research. Over 1.1 billion compounds were screened and in a span of two years, it threw up less than one percent of viable compounds with gero protector abilities.
If medicine has been a slow adapter of artificial intelligence technology, one key stand-out sector has been ophthalmology. This specialisation took to technologies like telemedicine and AI long before its brethren got involved. Read Dr. Kaushik Murali‘s piece here on the immense potential, and practical use of AI in ophthalmology.
Bindu Shajan Perappadan also reported on this: AIIMS and Wipro to establish an AI Health Innovation Hub, that has definite ramifications for public health care in the country. We are going to stay on this story, and bring you updates whenever relevant.
In other news, she also reported on India’s first diabetes biobank, set up in Chennai, by ICMR and the Madras Diabetes Research Foundation, here. If you are wondering what a biobank is, here goes: This repository of population-based biological samples established in Chennai will gather, process, store and distribute biospecimens to assist scientific studies. Hit the link for further details.
Staying on non-communicable diseases and lifestyle causative factors, we have some important stories this week: Union Health minister J. P. Nadda claimed that Added sugar in Nestle baby products complies with India and global food standards. This follows an earlier controversy, when a Swiss NGO’s study claimed that the sugar levels that were contained in the formula food were much higher in certain countries including India.
R. Sujatha writes on a study that claimed Sweetened drinks ‘increase risk of serious cardiovascular diseases’ . The results were published in Frontiers in Public Health. See link for further details
Again, some solid nutrition advice, as part of research findings that emerged from Chennai: Many packaged, convenience foods are high in carbohydrates. Not great, clearly for weight watchers, and those who either have diabetes or a heavy family history of high blood sugar levels.
We also reported on a New study that links paracetamol to side effects in digestive tract, heart, kidneys among older adults.
Even if this is neither a non-communicable disease or infectious disease, the number of deaths due to drowning should give pause to governments across the world. Zubeda Hamid was in Geneva recently to report on the WHO report: 30 people drowned every hour in 2021 globally.
As usual infectious diseases slide into the newsletter, to claim their place. There were quite a few developments, including the release of the Republican-led U.S. Congressional report on COVID’s origins, as explained by Priyali Prakash. More a political document, a U.S. Congressional committee led by Republican Brad Wenstrup has concluded that the COVID-19 pandemic was the result of the spread of a virus that likely leaked from a research facility in Wuhan, China.
In startling news, Mariachiara Di Cesare, Francis Hassard report that Poliovirus was found in wastewater in Spain, Germany, and Poland. This discovery does not confirm infections in the population, but it is a wake-up call for Europe, which was declared polio free in 2002. Any gaps in vaccination coverage could see a resurgence of the disease.
Dr. C. Aravinda explains: What is Disease X and why the world should prepare for it. According to the WHO, Disease X was meant to represent—an unpredictable, novel threat requiring rapid global response and adaptation. Hit the link for more information on this.
Sobering news for India, last week as the WHOs World Malaria Report was released. The country accounts for half of all estimates malaria cases in 2023 in South-East Asia Region. The report notes that since 2000 the WHO South-East Asia Region has made remarkable progress against malaria and estimated malaria cases in the region fell from 22.8 million in 2000 to 4 million in 2023 – a reduction of 82.4%, and yet, it is a case that requires even more efforts towards cutting down the number of malaria cases in India.
Do read Serena Josephine M.’s story on what constitutes seasonal illnesses and how doctors tackle them, season after season.
The seesawing quality of AQI in the Delhi-NCR brings bad news again: AQI breaches 400-mark, enters ‘severe’ category once again. While winter advancing does increase the chances, other anthropocentric activity that contributes to such severe pollution needs to be addressed.
Switching on our gender lens, we present the following stories:
With the trend of people preferring home births and water births, without the assistance of trained medical professionals in Tamil Nadu, some of them endangering the life of foetus and mother, here is a story of caution: The fallacy of natural birth: Safeguarding mothers and newborns in modern times.
Meanwhile the Karnataka Health Department encouraged doctors to focus on natural births as caesarean section deliveries rise, again, in an effort to prevent unnecessary surgeries when vaginal births can take place without complications.
Priya M. Menon writes on how Denying access to restrooms has serious health ramifications for gender non-conforming people. Besides the mental trauma, which leaves scars, she writes, there are also physical health implications when a person is not able to use toilets in public areas.
Talking of trauma, here’s an interview with Peter Choate, professor of social work, Mount Royal University, Canada. In Chennai to speak on child sexual abuse and the health aspects of that, he talks about how
Trauma rewires the brain and what the healing process looks like.
A horrific fire in a private hospital in Dindigul in South Tamil Nadu led to the death of six persons, only one of them a patient. With preliminary investigation revealing that a short circuit had led to the fire, in which the six persons choked to death, and others needed to be shifted to a nearby government hospital, it becomes an occasion for the society to question infrastructure upkeep in hospitals and the implementation of fire safety norms. Do read The Hindu’s editorial on the same issue: Warding off fire.
If you have a few moments, do also spend a spot of time reading the following links:
A. S. Jayanth writes: Of the 13 lakh doctors in India, only 284 are part of national medical portal
C. Maya says there is an urgent need to train doctors, nurses in palliative care in Kerala
YouTube to turn eligible doctors’ channels into official health info sources
Supreme Court seeks Centre’s response on plea to make anti-venom for snakebite available at health centres, hospitals
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Published – December 17, 2024 03:53 pm IST
