Submit a link Features Reviews Podcasts Video Forums More ▾

Why 23andMe can't tell you everything about yourself (yet)

How can a mild-mannered grasshopper turn into a ferocious locust? Why are humans humans when we have share 80 percent of the same genetic material with a cow? In a fascinating long read at Aeon, David Dobbs delves into the differences between genetic change (evolution as you probably learned it in school) and genetic expression (the amazing powers of natural selection that scientists are only now starting to really understand). Maggie 6

23andMe vs. the FDA in less than 4 minutes

At what point does interesting-but-potentially-incorrect-or-misleading information become a potential threat to health? How do you regulate a product that current regulations were never set up to handle? The University of Michigan's Risk Science Center put together this quick cartoon that neatly summarizes the problems and questions at the heart of the FDA's crackdown on 23andMe, which Xeni wrote about on Monday.

A couple of other smart takes on this that have come out in the past couple of days:
• Genomics expert Michael Eisen delves deeper into the question of how we should regulate personal genetic testing.
Journalist David Dobbs rounded up some diverse opinions. You should pay attention to his blog. He's been doing a lot of great reporting on genetics and culture and is planning on publishing a longer piece on the 23andMe stuff later this week.

Waiter, there is snake in my cow

It's a crazy world out there. IKEA meatballs — which should, ostensibly, be 100% cow — are, in fact, at least partly horse. Meanwhile cow genomes are even more mixed up, containing 25% snake DNA. How the hell does that happen? The venerable Ed Yong explains. Maggie

Crowdfunding rare disease research – one family at a time

NewImageIf one of your loved ones was sick, what would you be willing to do to help? For millions of Americans in the US, even though they would give up anything and everything, there is no way for them to help. For many rare diseases, because they are so rare, there are no therapies or even diagnostics. What is needed is research. However, very few people have the funding and the access to the technology needed to perform such a study. Non-profits and foundations have been a major force in pushing forward research, but for many rare diseases, no such groups exist. Rare Genomics Institute (RGI) is hoping to change that, especially for children such as Maya.

Struggling with global developmental delays, Maya has not been able to speak, has had problems hearing, and has undergone many surgeries. However, after many genetic tests, there still was no answer. Then Maya’s mother found out about RGI and how they are helping children with rare diseases. With RGI’s help, Maya’s mother was able to connect with researchers and design a custom research project just for her daughter.

Using RGI’s crowdfunding platform, Maya’s family sought to raise the amount needed. The response was overwhelming. Within 6 hours, donors from all over the US gave to their cause in small amounts of $5 - $50 to raise the funds necessary for whole exome sequencing. With the funding available, the scientists were able to start the research study.

In less than a year, there was a promising result. The researchers reported a novel genetic variant in Maya that caused a failure to produce a protein related to fetal development. This may be the very reason Maya is sick. Researchers are now confirming this finding and possibly finding a therapeutic that may help Maya. What is amazing is that this entire line of research, including this new discovery, would not have existed if not for Maya’s mother’s persistence and the generosity of those that donated.

While more studies are needed to analyze the exact function of the gene, this is definitely a major success for rare disease patients. This model shows great promise in complementing existing efforts in rare diseases For the many diseases and patients that current funding and research cannot cover, this model may be a solution for a diagnosis or even a cure.

At RGI, we strongly believe that all diseases should be studied. No matter how few affected. No matter how rare. Ask Maya.

Newly discovered gene may explain 4-year-old's rare disease

Free edu-comic about genomics and stem cells, written by Ken Macleod

Ken Macleod and the European stem cell research consortium OptiStem have produced a CC-licensed educational comic about genomics called "Hope Beyond Hype." It's available as a free download, or as a &gbp;1 hardcopy, with translations to follow in many languages.

'starts with the true life story of two badly burned boys being treated with stem cell generated skin grafts in 1983. We then follow the successes and setbacks of a group of researchers working together to use stem cells to cure blindness, whilst being introduced to knotty issues that are part of the process, including stem cell regulation and the controversial ethical issues surrounding the subject. Whilst some of the story lines sound like science fiction they are in fact all true, despite the fact the script was written by the well-known Scottish Science Fiction writer, Ken Macleod. Comic book artist Edward Ross illustrated the script with his clear, friendly and attractive artwork, whilst stem cell researchers from OptiStem provided the real-life examples of their research and experiences.'

Macleod is a hell of a science fiction writer, and he's awfully good at comics, too.

OptiStem launches Hope Beyond Hype on International Clinical Trials Day (via The Early Days of a Better Nation)