3. What are the most interesting examples of natural selection in humans?
The most interesting example of this actually came out about a year ago when a group of scientists were studying the Bajau people of Indonesia. The scientists found that some of these people could actually dive underwater up to 70 meters! People without their incredible adaptation would really start to feel the pressure at these depths, their ears would pop and it probably wouldn't go too well.
The Bajau people can swim to these amazing depths in order to hunt for food, without any kind of scuba gear. The researchers found that there was a genetic difference between the Bajau and others without the abilities they have, which includes being able to withstand higher pressure and being able to hold their breath much longer. The adaptations included a larger spleen, which essentially allows them to store and release oxygen while they're underwater.
There are other awesome examples of human natural selection too like altitude adaptations in nepalese people who live very high in the mountains. However, Patrick’s favourite has got to be the Bajau deep sea divers.
4. How many genetic diseases or syndromes exist?
This question may sound simple but the answer is actually pretty complicated. However, if you ask most genetic scientists, they’ll probably tell you around five to seven thousand and the vast majority of these conditions are individually rare. We had an example of this on our podcast a few episodes ago, when we spoke to Nick Sireau, co-founder of Findacure and chairman of the AKU society. Both of Nick’s sons have Alkaptonuria, a disorder that occurs once in every half a million people. That’s over 100 people in the UK who have this disorder, so although these conditions may be individually rare, there’s actually quite a large proportion of people who do have one.
There are even a few conditions that are really quite common, like cardiovascular disease, diabetes, breast cancer and Alzheimers. While many of these conditions are well known, they’re actually often caused by very different genetic combinations together with the person’s environment. So what that means is that while two people may have depression, which is in part genetic, the way you respond to treatments could be very different because you’ll both have different causes of your depression. The same thing goes for other illnesses, like breast cancer which has dozens of sub-categories.