This blog is a place where I will translate interesting findings in biomedical and basic science research from scientific jargon to plain old English. The bottom line: You don't need a PhD to understand science!

Thursday, June 16, 2011

No Silver Bullet in the Treatment of Autism

When I was a sophomore in college, I spent my summer as a paraprofessional for twin seven-year-old boys with Autism Spectrum Disorder (ASD). They lacked the ability to use verbal language, and the little communication they did have was in the form of sign language for “bathroom” and “hungry.”

I worked day after day to gain their trust, looking forward to an unrealized moment when they might look me in the eye and smile or say goodbye at the end of the day. Whether or not my twin friends have forgotten me, I will never know, but I will certainly never forget them.

Ever since that summer, I’ve had a deep-seated desire to understand the cause of Autism—to the point that I did my doctoral research in basic neural development. While my work at the bench eventually transitioned into a new career path, my personal drive to understand the foundation of autistic behaviors never faded.

For years, the causes of ASD were shrouded in mystery. During an unfortunate scientific scandal, one man instigated a dangerous camp of people who promulgated the theory that childhood vaccinations are at the core of Autism, an idea that has over and over again been dismissed by the scientific community.

Vaccinations clearly do not cause ASD, so what does?

A large number of twin studies have shown that ASD has a genetic basis. If one child from a set of identical twins has ASD, the other twin is very likely to have it as well. While the fact that genetics has a lot to do with whether or not a child will have ASD, it has been notoriously difficult to pinpoint which gene, or set of genes, accounts for any significant portion of ASD cases.

There is a reason for this; according to three new publications in this month’s issue of Neuron, a large percentage of ASD cases are relatively unique in their origin. The researchers found that specific mutations in any of 130-230 places in our DNA can lead to Autistic behaviors.

The mutations, called copy number variants (CNVs), are seen as large chunks of missing DNA or strands of DNA that have been repeated too many times. For example, if each letter of the ABCs represents a piece of our DNA, it would be like having ABCEFG... or ABCDDDDDEFG...

While the genes affected by these CNVs are numerous, one of the three groups found that many of the genes control activities at the synapse (the place where one neuron passes a signal to the next neuron). This implies that disruption of common biological functions controlled by a number of different genes is responsible for a portion of ASD cases.

An important take-away point from these studies is that ASD does not have one cause, and therefore it does not have one cure. It’s important to understand that there will never be a universal treatment for ASD. Instead, doctors may be able to use new sequencing technologies to determine genetic abnormalities in individual ASD patients, allowing tailored treatment options depending on the unique genetic background.

The Bottom Line: Mutations along many places in our DNA can cause Autism Spectrum Disorder, which suggests that future treatments will need to be tailored to an individual’s unique case.

Sanders et al. (2011). “Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism.” Neuron, 70(5): 863-885.

Levy et al. (2011). “Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders.” Neuron, 70(5): 886-897.

Gilman et al. (2011). “Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses.” Neuron, 70(5): 898-907.

Thursday, June 2, 2011

Worm Astronauts

I'm in a playful mood, and I've been into limericks lately, so here's one about a recent press release from the University of Nottingham:

There once was a small little worm
Called C. elegans, he wriggles and squirms
Shot into space
For the human race
To find ways to keep space muscles firm

Researchers from the University of Nottingham are using microscopic roundworms, called C. elegans (a very common model system used in MANY biology labs around the world), to test out techniques that might be able to prevent or reduce muscle degeneration in astronauts during spaceflight. C. elegans are ideal to send into space due to their small size (around 1mm), well established development, and simple techniques for genetic manipulation.

The full press release can be found here:

Wednesday, June 1, 2011

The world's first "lifestyle science" magazine

Gotta love this! So I was farting around on twitter and happened to see the famous @BoraZ post a link to a new online science magazine. Low and behold, a few science nuts decided it was time for a magazine about science that the general public would love. It has entertainment, humor, top medical's a hoot!

The description from their website:
" Guru is a brand new type of magazine – it offers you engaging articles on current affairs, news and features from a scientific slant.

Guru lets you explore the things that really matter to you: life, love, media, technology, psychology, food and stuff. It will keep you informed and entertained about what you do with your time, your life and your money.

Guru is a world first – a ‘lifestyle science’ magazine – offering you compelling content but without the ‘geek’ factor you get in a regular science publication. It’s authoritative and everything is presented in a light-hearted and fun style. More like a lifestyle magazine really…"

Seriously, it's worth checking out: