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Intro: Our Future in the Hands of Medicine 

 

It’s an established fact that the number of cells in our body outnumber the number of galaxies in the universe. Technology is still yet to replace us, healthcare professionals but one thing’s sure, we have genomics and its data, molecular diagnosis and AI powered drug discovery.

 

1. Precision Medicine’s promising possibilities and its outlook

 

Mila Makovec can rock-climb over the age of three. Just before turning four, she would walk with an unturned foot. She was diagnosed with tibial torsion. It’s an inward twisting of the shin bones that’s common in toddlers. The following months, she walked clumsy and stumbled, her speech was slowed and staccato. Her mother Julia argued that her daughter was ‘advanced.’ Her daughter had more than a 100 visits to the doctors and therapists. Later on, she would develop some kind of vision problem and have seizures. Batten disease, it’s all to do with lysosomes, when the lysosomes are defective, the waste builds up, causing brain damage and eventually death. 

 

An error in one copy of her gene was found; CLN7. It’s a helper in moving molecules across the membranes of the lysosome bags. Hereditary form of Batten disease would mean it’s compulsory to have a copy from mom and a copy from dad. Her mother set up a charity, Mila’s Miracle Foundation; the fundraising target was $4 million. The goal was to achieve gene therapy. In 2017, her mother got a phone call from Timothy Yu who is a neurologist and neuro-geneticist at Boston Children’s Hospital. He had created a drug that resembles the gene and in turn removed the defect. It’s called an anti-sense oligonucleotide (ASO). Milasen was the name of the drug. Over the next 6 months, Mila’s condition would not only stabilise but also improve. 

 

2. Diagnosis has a future 

 

Michael Snyder decided to conduct an experiment, he was the subject. He had his genome sequenced, the measurements were taken down when he was healthy and sick, his omics profile showed that he was at risk for Type 2 diabetes. Over the next 14 months, Snyder and his team would track 40,000 molecules in his blood. In 2011, a nasty viral infection would push him to be diabetic. His doctor confirmed it. By 2014, his omics profile would confirm that he’s diabetic again. 

 

In 2015, Snyder co-founded a company called Q Bio, that would aim to provide a bigger picture of their health based on big data analytics. It’s $3,500 for a visit even though Mr Snyder is confident that the costs will come down. Snyder’s omics profiling can become the new standard for the healthcare providers, potentially transforming surgeries done by doctors and keeps us informed on places that we can visit to stay healthy. There’s a need to incentivise the system, nobody’s is going to walk in to get that treatment. 

 

3. A mapping of the cellular based treatment 

 

The Human Cell Atlas uses single-cell genomics and spatial genomics to zoom in and figure out what the different types of cells in the body do. They create a profiling that pictures the cellular function. It’s a comprehensive view into our tissue and cellular architecture. In September 2020, researchers were able to finally publish the 1st cellular mapping of the human heart. They put to use the healthy hearts from 14 donors and studied 500,000 individual cells to find out which genes switched on and off each cell.

 

4. Gene engineering for a cancer cure

 

6 year old Emily Whitehead was battling acute lymphoblastic leukaemia. Remission rates are at 85% and for 16 months her cancer had resisted chemotherapy. A bone marrow transplant was not possible and her parents were told that its terminal. CAR-T cell therapy. Her parents were told that this could aid her immune system to beat the cancer. These engineered T cells called as chimeric antigen receptor cells had new genetic instructions that would target CD19; a protein found on the surface of cancerous B cells. These T cells can kill the B cells in this sense. This was possible through a modified and deactivated version of HIV. Yes, the one and only deadly HIV. The one that baffles scientists even to this day!

 

5. Tackling Psychiatry Cases on a Molecular Level

 

Pluripotent stem cells at the brain’s developmental level have a lot of potential. Scientists think that there’s a cure for diseases like schizophrenia and Alzheimer’s. Even people suffering with autism could benefit from this. The brain and its complex workings have led PsychENCODE to publish their initial work in 2018. They build a comprehensive picture of the complex systems that lead to psychiatric disorders. 

 

6. Can ageing have a miraculous cure through pill consumption?

 

Metformin is one of the drugs that can rewind our ageing. There’s a study called TAME (Targeting Aging with Metformin) which will run for 6 years across 14 research institutions in the US gathering data from 3,000 people between the ages of 65 to 79. 

 

 

Credit: The Future of Medicine-James Temperton [WIRED]