Genes that make us sick

It is said that for money you can have everything, but you cannot. You can buy food, but not appetite; medicine, but not health; knowledge, but not wisdom; glitter, but not beauty; fun, but not joy; acquaintances, but not friends; servants, but not faithfulness; leisure, but not peace. You can have the husk of everything for money, but not the kernel.

— Arne Garborg

I have recently had the opportunity to contribute to The Objects that Power the Global Economy, a book by Quartz.

The book is about objects that have impact on our world and our lives. "Each chapter of this book examines an object that is driving radical change in the global economy: how we communicate, what we eat, the way we spend our money. The stories are told through global reporting, original photography and illustration by award-winning artists, contributions from business visionaries, data visualization, and interactive features." (Quartz).

the posters

The human genome is shown as a spiral, starting at the top with chromosome 1 and proceeding clockwise. The spiral is formed by 10,087 segments that correspond to 286,000 bases each. Segments that contain genes implicated in disease are indicated by dots, sized by the number of genes. Chromosomes X and Y are not shown.

where disease hides in the genome

My illustration is of the human genome with a focus on the genes that have been implicated in disease.

We have about 30,000 genes and about half of these play some role in disease.

You can peruse what we know about the connection between genetics and illness at the Online Mendelean Inheritance of Man database. For example, a cursory search for "cancer" results in over 3,500 entries.

It's important to realize that these aren't genes that cause disease—its misregulation and mutations in them that are associated with disease (causality is complicated).

the visualization

The illustration shows the genome as a single line, wound in an Archimedean spiral. Chromosomes 1–22 are shown binned into about 10,000 regions along the spiral. Regions that have genes associated with disease are marked with dots—the size of the dot shows how many such genes are found. Each region corresponds to about 286,000 bases.

In about 73% of the 286 kb regions, there are no genes. In about 18%, there is a single gene and in roughly 11% two genes or more.

regions genes 7,321 0 1,812 1 556 2 221 3 85 4 93 5+

Winding the genome up in a spiral creates a compact representation. Squishing a line onto a page can be tricky.

Luckily, space filling curves like the Hilbert curve are very efficient at doing this. I've previously shown the genome along a Hilbert curve for a Scientific American Graphic Science page.

the artwork

In the book, the image is printed on a black background.