Category Archives: Genetics

Heterochromia Iridum aka multicoloured eyes

I only recently learned that this had a name, and since I find it interesting, I wanted to do a post about it. Apparently, there’s one player in the NHL (Shawn Horcoff) who has this, and actually, I grew up with a pet dog (a gorgeous Siberian Husky) that had it too.

Heterochrowhatia?Watch movie online The Transporter Refueled (2015)?

From WikiPedia:

In anatomy, heterochromia (Greek: heteros ‘different’ + chroma ‘color’) is a difference in coloration, usually of the iris but also of hair or skin. Heterochromia is a result of the relative excess or lack of melanin (a pigment). It may be inherited, or caused by genetic mosaicism, chimerism, disease, or injury.

Heterochromia of the eye (heterochromia iridis or heterochromia iridum) is of two kinds. In complete heterochromia, one iris is a different color from the other. In partial heterochromia or sectoral heterochromia, part of one iris is a different color from its remainder.

Eye color, specifically the color of the irises, is determined primarily by the concentration and distribution of melanin. The affected eye may be hyperpigmented (hyperchromic) or hypopigmented (hypochromic). In humans, usually, an excess of melanin indicates hyperplasia of the iris tissues, whereas a lack of melanin indicates hypoplasia.

So, either both eyes can be different colours (as was the case with my childhood dog), or one eye can have two different colours, or the eyes can simply be a different colour from the hair or skin. But since it’s not something we see very often, it always catches our attention and fascination.

You can actually see it somewhat in this closeup of the iris that I found and posted recently:

eye closeupPretty darn cool huh?

So, if you want something pretty to look at today, I suggest googling “heterchromic eyes”, and behold. I’m partial to any images with green or blue, personally.

 

Are blue eyes and red hair going extinct?

Two good videos here from SciShow on YouTube.

Are blue eyes endangered?

The truth about “Gingers”

To raise your chicken and eat it too?

A little while ago, I listened to an episode of the Man School Podcast, featuring an interview with “The Vegan Wrestler”, Austin Aries. I grew up watching wrestling, though haven’t in years, and I know how big those bodies tend to be. I didn’t actually look up a picture of Austin until after the episode was done, and I thought he looked pretty normal. That is to say, had I seen the picture first and not known he was vegan, I would never have guessed.

For the record, and for the moment, I’m not a vegan, or even a vegetarian. I did make the silly mistake on a family vacation many years ago of trying to go vegetarian, “cold turkey”. Let’s just say I got sick of lettuce pretty fast. It’s generally not wise to try and make huge life changes on a whim without doing some actual research.

I have tried to reduce my red meat intake of late, mainly because I keep hearing that consuming a lot of red meat elevates your risk of cancer and heart disease. So I figured, I’ll eat less, and at least lower that risk. The longest I can remember having gone without eating red meat was something like 5 days, and by that point, nothing else I ate instead would satiate my hunger. I do however eat quite a bit of fruit and vegetables, and I do love me some peanut butter so I usually only eat meat once a day, sometimes not at all (i’ll swap in some filling pasta instead).

Last night, for the first time, I decided to try a veggie burger. I just decided, why not? Either it would taste terrible and I’d never do it again, or it wouldn’t taste terrible and I could switch to that. The good news is, it wasn’t terrible at all. It was actually pretty good, and I plan to eat veggies burgers again/more.

But my mind is still not necessarily “made”. I would like to eat less meat, or at least get it from the most humane and healthy sources as possible (but I am not rich). I do also work out regularly and I know that animal protein helps build muscle the best and fastest (though obviously not necessary as per Austin Aries).

I had been meaning to post the Austin Aries podcast anyway, then I tried and liked a veggie burger, and then I just listened to another podcast on the subject – Intelligence Squared US Debates. The motion of this episode was “Don’t eat anything with a face”. I have to say, I think this is one of the best debates I have heard on the subject of whether or not to go vegan. Both sides made excellent points and I don’t feel either side made a slam dunk argument. I think I still want to move towards less meat eating (for health and environmental reasons), but I don’t know that the arguments for veganism are all as clear-cut as some people make them out to be.

I am also (slowly) reading Temple Grandin’s book “Animals Make Us Human” right now (which I hope to review here in some form when I finish), and it is a really fascinating book that talks a lot about many of the problems with the factory farming industry and how things could be much better. Temple writes a lot about the ethical and humane treatment issues at animal raising facilities. I think she would advocate that we get rid of factory farming altogether and probably reduction of consumption of animals, but I think she also understands the economic argument in play.

Anyways, I wanted to recommend listening to both podcasts if you’re on the fence or are looking for some additional information/viewpoints. I really enjoy the Intelligence Squared Debates because they are on a fairly high level but the information is presented so that even someone who has little to no prior knowledge of the subject can understand and follow along. It feels a bit like getting a university course of lectures distilled down into an hour.

It’s probably also worth reading this article about whether sugar or fat is worse for your health.

Here is the full debate (the podcast is edited down to 50 minutes):

And here is the Man School Episode:

The perils of insufficient sleep are many and varied

I want to throw a Monty Python screen cap in here, but I can’t find a good one.

Alright, so not exactly sure why this is on Business Insider, but hey, a good article is a good article. “25 Horrible things that happen if you don’t get enough sleep”.

I would normally list them all here, but 25 is a lot, and I have more posts to write. Needless to say, some of them you already know (like irritability and difficulty learning new things), others you may not have (like apparently genetic disruption).

Go read the article, and feel free to check the sources they have cited for the cold hard scientific data.

Autism – Myths, Misconceptions, the Science, the Upside and the Future

*In searching YouTube for revelant video clips for the resources section at the end of this post, it is painfully obvious to me why Autism has such a bad rap in the general populace, because for the most part you only hear about really severe, low-functioning cases, which are the ones that often strongly resemble mental retardation. This is part of why it is SO crucial to understand the condition better, and why I feel this is one of the most important posts on this site. [Update: I recently found a post that makes a good case for not thinking in terms of high or low functioning, you can read that here]

Very recently I finished reading “The Autistic Brain: Thinking Across the Spectrum” by Dr. Temple Grandin, a famous Autistic person who has revolutionized the animal care industry, thanks in part to her Autism.

This is one of the best books I’ve ever read, both in the range of information and topics it covers, but also in that it spoke to me personally and potentially gave me answers for some of my own experiences. I think anyone who is on the spectrum or suspects they are, should absolutely read it. This blog entry is going to be LONG (and largely a recap of the book), but I really hope you will take the time to read the whole thing and I will strongly recommend you buy and read the book yourself as there is so much information I can’t cover here.

Chapters in the book include:
1. The Meanings of Autism (history)
2. Lighting Up the Autistic Brain (brain scans/neurology)
3. Sequencing the Autistic Brain (looking for genetic links and causes)
4. Hiding and Seeking (sensory)
5. Looking Past the Labels (focus on the symptoms, not the label)
6. Knowing Your Own Strengths
7. Rethinking in Pictures (corrections from her prior book)
8. From the Margins to the Mainstream (moving forward into the future of living with Autism)
Appendix – “Autism Quotient” self-test.

I know I had heard about Autism in passing while growing up, but I never knew anything about it (or at least I would have fallen in the “Autism=rain man” camp). In 2010, I stumbled upon a thing called Asperger’s Syndrome, and the more I read about it, the more I related and identified and felt like “this explains so many things about me”. Funny enough, I brought it up to a friend at the time, I asked her “have you ever heard of a thing called Asperger’s Syndrome?” and without missing a beat she replied “yes and I bet you have it”. I had literally only just stumbled onto it, and she had been observing me and had identified that I was like her partner in many ways (her partner at the time was an “Aspie” as well) so it was no surprise to her.

I continued to read, research and ponder the subject, getting a range of responses from friends and family (as I would quote them descriptions of it or things I read) from “I don’t think so” to “yeah that makes a lot of sense”. It was really frustrating because I really felt like the shoe fit, but our society largely holds a negative attitude towards people self-diagnosing, which I can understand in some cases. But I wasn’t seeking any kind of advantage or special treatment, I just wanted to know if this was the answer I thought it was. Finally, in 2012 I was able to get referred to a psychologist who assessed me and determined that I had “very mild” Aspergers and was “clearly high functioning”. The first thing I did when I got out of that meeting was text one of my friends (who also suspects she is on spectrum) and said “I’m officially a statistic!”. Because I try not to take myself too seriously.

Funny enough, from that point to very recently, I didn’t promote it much. There’s a lot of stigma and bad information out there, and even since being formally diagnosed, some people still don’t believe me, largely because I’ve refined my social skills to such a high point from what they used to be. But being really good at acting “normal” doesn’t mean you are normal, just that you’re a good actor. Even though there are proven advantages (some might even call them super powers in a way), I’ve been largely advised against mentioning it in job interviews as a strength. I’ve mostly kept it under my hat and only told certain people.

Now that I’ve read this book, I don’t feel the need to do that anymore, because I have a MUCH better understanding of what it is, what it means, and how to work with it. The correct science of understanding it is in its infancy, but the future looks very bright.

So this post will be largely a recap of the book, but I will also talk about my personal experiences. I may also update this post in the future if I realize I’ve forgotten to mention anything or include any resources. So, let’s learn! Continue reading

Twins try different diets to determine which is worse – fat or sugar?

Pretty interesting article (yes, I know I overuse that word, article) I’ve found (aka a friend posted it on facebook): “One twin gave up sugar, the other gave up fat. Their experiment could change YOUR life”.

The twins grew up in the United Kingdom, but a few years after one of them moved to the US, he had gained more weight than he would have liked. So they agreed to do an experiment, and since their genes were the same, they could truly test what type of food has the most effect on weight loss.

Essentially what they describe is that you will lose more weight by reducing carbohydrate intake in your diet, but in doing so you will also negatively impact your energy levels, both mental and physical. You’ll have a harder time focusing (since your brain can’t run on fat) and your body may even start to cannibalize its own muscle mass for energy. You’ll also be hungry more often. You need both fat and sugar. But not too much of either. Moderation!

They determine that it’s the combination of the two together that’s the real problem.

For any diet to work you have to be able to keep it up for the rest of your life [emphasis added]. I thought I would stick to low carbs after we finished, but having my first meal with carbs  – and the boost in energy and alertness it gave me – reminded me that for a month I had been under-performing in all areas of my life, and I’d felt dreadful.

So, what were our conclusions? If you want to lose weight it will be much easier if you avoid processed foods made with sugar and fat. These foods affect your brain in a completely different way from natural foods and it’s hard for anyone to resist eating too much.

And any diet that eliminates fat or sugar will be unpalatable, hard to sustain and probably be bad for your health, too.

So, there you have it. You need carbs for energy. You need fat for satiety and muscle mass. The key is avoiding processed foods and fat/sugar combo meals.

Post-Christmas Reading List

For the record, I am not much of a Christmas person. I think the holiday has been horribly over-run by consumerism and materialism, and it makes me both sad and angry to hear about the pandemonium on Black Friday. I am pleased to say that my family (one side of it anyway) is moving towards a more reasonable “enjoy quality time together without gifts” type of celebration. Any gifts given will be purely practical. As it stands, “Christmas Shopping” in my family thus far has been an exercise in separately obtaining gift cards or entertainment items of equal value and exchanging them. I’d rather just get what I need and then enjoy a nice dinner and conversation without worrying about wrapping paper and boxes and things to carry home.

That all said, since part of my family does still subscribe to the “buy all the presents!” way of thinking, I still had to come up with a wish list. This year I asked for mostly books, and I ended up getting all the ones I asked for.

I don’t read much fiction anymore, but a friend of mine told me about one fiction book that caught my interest when I read the synopsis.

Wool (by Hugh Howey):

In a ruined and toxic landscape, a community exists in a giant silo underground, hundreds of stories deep. There, men and women live in a society full of regulations they believe are meant to protect them. Sheriff Holston, who has unwaveringly upheld the silo’s rules for years, unexpectedly breaks the greatest taboo of all: He asks to go outside.

I’m a sucker for good post-apoc fiction, and this instantly got my attention and made me want to check it out.

Next are all the non-fiction books.

The Autistic Brain: Thinking Across the Spectrum (by Temple Grandin):

When Temple Grandin was born in 1947, autism had only just been named. Today it is more prevalent than ever, with one in 88 children diagnosed on the spectrum. And our thinking about it has undergone a transformation in her lifetime: Autism studies have moved from the realm of psychology to neurology and genetics, and there is far more hope today than ever before thanks to groundbreaking new research into causes and treatments. Now Temple Grandin reports from the forefront of autism science, bringing her singular perspective to a thrilling journey into the heart of the autism revolution.
Weaving her own experience with remarkable new discoveries, Grandin introduces the neuroimaging advances and genetic research that link brain science to behavior, even sharing her own brain scan to show us which anomalies might explain common symptoms. We meet the scientists and self-advocates who are exploring innovative theories of what causes autism and how we can diagnose and best treat it. Grandin also highlights long-ignored sensory problems and the transformative effects we can have by treating autism symptom by symptom, rather than with an umbrella diagnosis. Most exciting, she argues that raising and educating kids on the spectrum isn’t just a matter of focusing on their weaknesses; in the science that reveals their long-overlooked strengths she shows us new ways to foster their unique contributions.

From the “aspies” in Silicon Valley to the five-year-old without language, Grandin understands the true meaning of the word spectrum. The Autistic Brain is essential reading from the most respected and beloved voices in the field.

I have yet to write a comprehensive post about Autism, but it is a subject I have read a lot about and even have a personal connection to. I’ve heard Temple Grandin in interviews and listened to a review of her book, and it sounded fascinating and very well researched, so I am very exciting to crack this one open. There is also a hollywood movie made about Temple Grandin which seems to be a reasonably accurate biopic and will give you a sense of what she’s all about. I highly recommend it.

Animals Make Us Human (by Temple Grandin):

I actually don’t know much about this one, but since she wrote it and I’m interested in the subject matter, it was a no-brainer.

In her groundbreaking and best-selling book Animals in Translation, Temple Grandin drew on her own experience with autism as well as her distinguished career as an animal scientist to deliver extraordinary insights into how animals think, act, and feel.Now she builds on those insights to show us how to give our animals the best and happiest life—on their terms, not ours.

It’s usually easy to pinpoint the cause of physical pain in animals, but to know what is causing them emotional distress is much harder. Drawing on the latest research and her own work, Grandin identifies the core emotional needs of animals.Then she explains how to fulfill them for dogs and cats, horses, farm animals, and zoo animals.Whether it’s how to make the healthiest environment for the dog you must leave alone most of the day, how to keep pigs from being bored, or how to know if the lion pacing in the zoo is miserable or just exercising, Grandin teaches us to challenge our assumptions about animal contentment and honor our bond with our fellow creatures.

The Sports Gene (by David Epstein):

The debate is as old as physical competition. Are stars like Usain Bolt, Michael Phelps, and Serena Williams genetic freaks put on Earth to dominate their respective sports? Or are they simply normal people who overcame their biological limits through sheer force of will and obsessive training?
The truth is far messier than a simple dichotomy between nature and nurture. In the decade since the sequencing of the human genome, researchers have slowly begun to uncover how the relationship between biological endowments and a competitor’s training environment affects athleticism. Sports scientists have gradually entered the era of modern genetic research.

In this controversial and engaging exploration of athletic success, Sports Illustrated senior writer David Epstein tackles the great nature vs. nurture debate and traces how far science has come in solving this great riddle. He investigates the so-called 10,000-hour rule to uncover whether rigorous and consistent practice from a young age is the only route to athletic excellence.

After listening to the interview with David about his book on the Probably Science Podcast, I knew I had to read it.

I didn’t ask for this one for christmas, but I have been reading it.

Wheat Belly (by William Davis)

Wheat Belly is a provocative look at how eliminating wheat—even so-called healthy whole grain wheat—from our diets is the key to permanent weight loss and can offer relief from a broad spectrum of health and digestive problems.

Drawing on decades of clinical studies and the extraordinary results he has observed after putting thousands of his patients on wheat-free regimens, Dr. William Davis makes a compelling case against this ubiquitous ingredient.

I’m a few chapters into this and it is certainly interesting.

I also recommend, if you are thinking about starting your own business, you will probably want to check out Tim Ferriss’ book “Four Hour Workweek” and Michael Gerber’s book “The Entrepreneurial Myth”.

And finally, my semi-regularly updated profile on GoodReads.

xmasreadinglist

Banana Pandemic

No, that’s not the name of some wacky new band, that’s a thing that’s unfortunately in danger of happening.

From io9:

Earlier this month, the scientific journal Nature published an article about Mozambique’s efforts to contain the blight pandemic by quarantining fields where it has been found, hoping that it won’t spread. The country needs more funds to prevent the spread of Panama disease. Unchecked, this banana pandemic could potentially cut off the global supply of one of the world’s most popular fruits, a healthy source of minerals that’s used in many cuisines.

There have been previous banana pandemics from a similar kind of fungus, and those diseases were only stopped when farmers turned to a new strain of banana that was not vulnerable to the fungus. Now, unfortunately, the fungus has mutated enough to that it can affect these new bananas. Even more unfortunately, this banana strain is used all over the world, which makes it easy for Panama to spread.

“Get ready for the Banana Pandemic to destroy your favourite fruit”

Scientists discover double meaning in genetic code

Well, this one is a doosy. I was just at a talk about DNA sequencing last week and that was hard enough to wrap my head around (you would never guess how complicated DNA can be unless you are a geneticist!), now I read this and my brain is oozing out my ears again.

From The University of Washington, “Scientists discover double meaning in genetic code”:

Scientists have discovered a second code hiding within DNA. This second code contains information that changes how scientists read the instructions contained in DNA and interpret mutations to make sense of health and disease.

Since the genetic code was deciphered in the 1960s, scientists have assumed that it was used exclusively to write information about proteins. UW scientists were stunned to discover that genomes use the genetic code to write two separate languages. One describes how proteins are made, and the other instructs the cell on how genes are controlled. One language is written on top of the other, which is why the second language remained hidden for so long.

“For over 40 years we have assumed that DNA changes affecting the genetic code solely impact how proteins are made,” said Stamatoyannopoulos. “Now we know that this basic assumption about reading the human genome missed half of the picture. These new findings highlight that DNA is an incredibly powerful information storage device, which nature has fully exploited in unexpected ways.”

The genetic code uses a 64-letter alphabet called codons. The UW team discovered that some codons, which they called duons, can have two meanings, one related to protein sequence, and one related to gene control. These two meanings seem to have evolved in concert with each other. The gene control instructions appear to help stabilize certain beneficial features of proteins and how they are made.

The discovery of duons has major implications for how scientists and physicians interpret a patient’s genome and will open new doors to the diagnosis and treatment of disease.

The future is going to be very interesting indeed.

Looking at a bright light can help you sneeze

I noticed this pattern on my own years ago, but never knew the WHY. Whenever I would have a sneeze waiting to be unleashed, but wouldn’t come out on its own, I could look at a bright light and that would somehow help coax it out. You may have noticed this yourself.

Well, I finally googled the phenomenon, and sadly, there doesn’t seem to be a firm scientific explanation for it yet. From Live Science:

All reflexes require that a message get sent along complex neuronal pathways in the brain. It’s conceivable that an anatomical mix-up could cause unintended results. Cross the sneeze reflex with the pupillary light reflex and you might get both responses to the singe stimulus of a bright light.

Scientists don’t yet fully understand this phenomenon. But it’s fairly certain that its alternative name is sure to produce an uncontrollable groan reflex: autosomal dominant compelling helio-opthalmic outburst, or ACHOO, syndrome. Seriously, it’s in the literature.

Scientific American has a slightly different take on it:

Have you ever emerged from a matinee movie, squinted into the sudden burst of sunlight and sneezed uncontrollably? Up to a third of the population will answer this question with an emphatic “Yes!” (whereas nearly everyone else scratches their head in confusion). Sneezing as the result of being exposed to a bright light—known as the photic sneeze reflex—is a genetic quirk that is still unexplained by science, even though it has intrigued some of history’s greatest minds.

So based on that explanation, I’m just a freak of nature with an unexplained genetic quirk. Hey, that’s OK with me. Whatever helps me sneeze at night.