1. Huda Zoghbi, child neurologistDr. Zoghbi is recognised for identifying that mutations in MECP2 are the cause of Rett syndrome. The disease strikes after a year of normal development and presents with developmental regression, social withdrawal, loss of hand use and compulsive wringing of the hands, seizures and a variety of neurobehavioral symptoms.
The discovery of the gene provided a straightforward diagnostic genetic test, allowing early and accurate diagnosis and revealed that the mutations can cause a host of other neuropsychiatric features ranging from autism to juvenile onset schizophrenia. She showed the X-chromosome mutation is deleterious and therefore only occurs in females.
2. Rino Rappuoli, co-founder of cellular microbiologyRino Rappuoli pioneered reverse vaccinology, which revolutionised vaccine development. For more than three centuries, scientists isolated pathogens, grew them in the lab and then exposed individuals to a weakened form to generate immunity. However this approach is hit-and-miss. Instead, Dr. Rappuoli decoded the genome of a bacterium and then identified proteins that are good vaccine targets.
Reverse vaccinology is now standard practice, and has been used to develop vaccines for Ebola, adjuvanted influenza, meningococcal-C and pertussis. “Today, we don’t even start to look at vaccines without looking at the genome first,” he says.
3. Akira Endo, biochemistToday, cholesterol-lowering statins are among the most widely used pharmaceutical drugs around the world. Akira Endo, discovered the first statin after examining 6,000 fungi culture extracts. Dr. Endo was looking for a specific agent that could inhibit a key enzyme involved in cholesterol synthesis.
He hypothesised that fungi used chemicals to ward off parasitic organisms by inhibiting cholesterol synthesis. The cell membranes of fungi contain ergosterol in place of cholesterol, allowing them to produce compounds that inhibit cholesterol and Endo discovered ML-236B.
“Millions of people extended their lives through statin therapy. I’m very happy to know that,” he said.
4. Antoine Hakim, chemical engineer-turned-physicianDr. Hakim discovered that following an ischemic stroke, there is a part of the brain that could resume function if blood flow was restored. “It’s as if the region of the brain doesn’t die; it just holds its breath waiting for help,” he says.
It meant the harm caused by stroke was gradual and if treated quickly, could be limited. He therefore dedicated his career to demonstrating that stroke is preventable, treatable and repairable and campaigns for the prompt administration of the clot-busting drug: tissue plasminogen activator. He also founded the Heart and Stroke Foundation Centre for Stroke Recovery.
5. Cesar Victoria, epidemiologistCesar Victoria’s work is what parents take as received wisdom on their children’s health. He defined the growth standards that pediatricians plot on charts, and did the work that proved breastfeeding has an enormous range of positive effects on children, from higher intelligence to higher incomes and less disease as adults.
He has conducted extensive research in maternal and child health and nutrition, inequalities in health, and on the evaluation of the impact of major global health programs. His birth cohort study in the Brazilian town of Pelotas, totaled 30,000 participants studied over 30 years.
6. David Julius, physiologistDr. Julius is concerned with the way the body responds to sensations of heat and cold and their links to the perception of pain. He studies distinctive molecules from the natural world – including toxins from tarantulas and coral snakes, as well as capsaicin, the molecule that produces the heat in chili peppers – to understand how signals responsible for temperature and pain sensation are detected and transmitted by neural circuits to the brain and then find the gene responsible for the capability. The discoveries have helped reveal how the sensory channels are affected by tumour growth, infection and injury.
7. Lewis Kay, biochemist and physicistDr Kay is the world’s foremost surveyor of atoms through nuclear magnetic resonance. His laboratory houses cylinders that generate magnetic fields many hundreds of thousands of times more powerful than Earth’s. The magnetic fields line up the atoms from proteins in the cylinders and then Kay hits them with radio energy.
The resulting measurements enable him to discern the structure of the protein. Dr. Kay has excelled by adding the dimension of time through durations and delays, to allow him to watch proteins as they change in biochemical reactions. He is currently studying the structure of a proteasome as a target for cancer therapy. MIMS
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