DNA Day was created in 2003 by a congressional resolution to celebrate two important milestones in the study of genetics: the 50th anniversary of the description of the double-helix structure of DNA by James D. Watson and Francis H.C. Crick and the completion of the Human Genome Project. DNA Day is usually celebrated on April 25th, but to accommodate classroom schedules, many activities will be taking place a day early on Friday April 24th.

• DNA Day Chatroom: The National Human Genome Research Institute (NHGRI) will be hosting its annual DNA Day chatroom from 8 a.m. to 6 p.m., EDT on April 24th. Genomics and genetics experts will answer questions from students, teachers and the general public on topics ranging from basic genomic research to the genetic basis of disease to ethical questions about genetic privacy. Transcripts from past chatrooms can be found here.
• Teaching Tools for DNA Day: To plan your own DNA Day activities, check out the NHGRI’s collection of teaching tools and webcasts.  And don’t miss our collection of DNA-themed activities.
• DNA Day Online: National DNA Day is on Facebook and Twitter.  You can compete to win a NHGRI mug in their DNA model photo contest.  Pictures can be uploaded through April 24th.  You can also send a virtual gene via Facebook (thanks to Genome Alberta) or send a DNA Day e-card.

What are you doing to celebrate?  Leave us a comment – we’d love to know.  And if you know of any cool DNA Day happenings, let us know about those too!

ShareThis

When I was 12 years old I did my first Punnett square and decided that genetics was absolutely, most definitely the coolest thing ever.

When I was 13 years old they started the Human Genome Project. The task of sequencing all three billion base pairs in a person’s genome was the most enormous project I could imagine. And I didn’t even understand you had to cover the whole thing more than once to do it right.

I was just finishing my first year of graduate school when HGP leaders and President Clinton announced the working draft of the human genome.

Now I’m 31 and I’ve actually seen my own genetic data through 23andMe.

The totally mind blowing-ness of how quickly things have changed hit me today as I listened to two talks at the ASHG meeting in Philadelphia.

First, there was Jun Wang from the Beijing Genomics Institute. He and his colleagues recently published the first full genome sequence of an Asian individual. The numbers and statistics that he presented were all very impressive, but what struck me most were his descriptions of the logic behind two of his other endeavors, the Tree of Life project that is sequencing various crops and the Giant Panda Project: “Taste good, sequence it” and “Look cute, sequence it.”

Obviously there are good scientific reasons for both of these projects. But can you believe we live in a time where you literally could just sequence something’s genome because it was tasty or cuddly?!

The second talk that really drove home for me what a special genetic era we have entered into was by David Altschuler on behalf of the 1000 Genomes Project. This multi-national public/private endeavor is going to do exactly what its name suggests – targeted sequencing of 1000 peoples’ genomes to create the most complete catalogue of human variation ever.

The implications of the project are huge. But for me, a biologist who vaguely remembers that there was a time when people did science without much computer power or the internet, the craziest thing was when Altschuler put the sheer amount of data the project is producing into perspective: each week in September and October of this year the 1000 Genomes Project created the equivalent of all the data in GenBank. Each week! In 2009 the 1000 Genomes project expects to create 1 petabyte (1,000,000,000,000,000 bytes) of data. For comparison Altschuler said that the Large Hadron Collider, which is expected to create 15 petabyes per year, has had to set up a system of 140 data centers in 33 countries.

Maybe you already know all this and aren’t that impressed anymore. Maybe you’re more concerned with what these and other researchers are actually going to do with all of this sequence data. But for just a second, I want you to think about how cool this all this. What other branch of science has ever moved so fast? One of the guys who discovered the structure of DNA is still around and has had his whole genome sequenced. And someday soon, you may have yours sequenced as well.

Photo: U.S. Department of Energy Genome Programs

ShareThis

“Sometimes I feel like Sir James Murray must have felt while he was grubbing away at writing the Oxford English Dictionary,” the Washington Post once quoted Victor McKusick as saying. “He managed to complete the first 17 letters before he died.”

When McKusick, University Professor of Medical Genetics at Johns Hopkins University School of Medicine, the so-called “Father of Genetic Medicine” and a key architect of the Human Genome project died on July 22, his own magnum opus, the online Mendelian Inheritance in Man (OMIM) database, had nearly 19,000 entries.

The man who wrote the bible of medical genetics attended Tufts University and then entered Johns Hopkins Medical School without finishing college.

“Part of my reverse snobbery is that I was a college dropout, that I don’t have a bachelor’s degree,” McKusick observed during a 2001 interview. “I have twenty-one honorary doctorates in addition to my M.D., but no bachelor’s degree.”

Once he got into Johns Hopkins in 1943, McKusick never left. He started his medical career as a cardiologist because, he said, medical genetics didn’t exist as a field then.

“The problems presented by hereditary disorders were intellectually tremendously challenging, and that was part of the reason I was interested in them,” he said during a 2001 interview. “It was obviously necessary to get at root causes in the terms of biochemical defects and, eventually, DNA defects.”

His interest in genetic disorders such as Marfan Syndrome led to studies involving the Old Amish in Pennsylvania, and eventually fostered a need to compile not just an annual review of genetic research done thus far, but to provide “a comprehensive compendium of all the information up to a given point.”

That compendium was the Mendelian Inheritance of Man or MIM, which went through 12 editions in print before the sheer number of entries rendered volumes unwieldy. In 1987, the online MIM, which McKusick and his colleagues continued to edit on a daily basis, became available to the public. By 2000, OMIM had 1,000 gene entries where at least one version of a gene had been linked with a human phenotype.

In 1968, McKusick published a Proceedings of the National Academy of Sciences paper in which he mapped the Duffy blood group locus to chromosome 1. The following year he began campaigning for a map of the human genome, and saw the full DNA sequence completed in 2001.

McKusick received the 1997 Albert Lasker Award for Special Achievement in Medical Science and the 2001 National Medal of Science. Earlier this year he was awarded the Japan Prize in medical genomics and genetics from the Science and Technology Foundation of Japan. And for nearly 50 years he was co-director of the Short Course in Medical and Experimental Mammalian Genetics, a two-week summer course held at The Jackson Laboratory in Bar Harbor, Maine.

He also foresaw the promise of genome-based medical care. “On the traditional turf of clinical medicine diagnosis will become more specific and precise, and treatment also more specific and safer,” McKusick wrote in a 2001 JAMA paper. “Better understanding of individual genomic constitutions should permit drug therapy to get away from the one-size-fits-all approach. It should allow selection of drugs likely to be more effective in the treatment of a given disorder in a given individual.”

At the end of an interview for the Oral History of Human Genetics Project, McKusick talked about the opportunities he’d had to work on so many intriguing topics, ultimately comparing the scope of his work to that of Sir Isaac Newton.

“Of course, to compare my career with that of Isaac Newton is absurd,” he noted, “but he [Newton] says that he feels like a small boy playing on the beach and picking up an occasional pebble that is smoother and brighter in color than the rest while all the great mysteries of the ocean go unexplored. He’s just picking up a little stone here and there. So I feel like an unabashed dilettante, as well as a chauvinist and opportunist.”

Image from: Johns Hopkins Medicine

ShareThis

You may have seen our recent posts about DNA-themed activities and events for DNA Day. But what is DNA Day all about anyway?

DNA Day was created in 2003 by concurrent (Senate and House) congressional resolution to celebrate two important milestones in the study of genetics: the 50th anniversary of the description of the double-helix structure of DNA by James D. Watson and Francis H.C. Crick and the completion of the Human Genome Project.

Watson and Crick

On April 25, 1953 James Watson and Francis Crick published their description of the structure of DNA in the journal Nature. This report is considered one of the greatest scientific contributions of the last century. In 1962 Watson and Crick, along with Maurice Wilkins (another scientist who was involved in solving the structure of DNA), won the Nobel prize in Physiology or Medicine for their work.

Biographies of each man, their Nobel lectures, and other resources are available at the Nobel Foundation’s website.

Rosalind Franklin, whose x-ray images of DNA were critical to solving its structure, was not included in the Nobel prize given to Watson, Crick and Wilkins (Franklin passed away in 1958 and the award is not given posthumously). You can learn about her career and how her work contributed to the solving of the structure of DNA at Nova’s online exhibit “Secret of Photo 51“.

Human Genome Project

The Human Genome Project, completed in 2003, was a 13-year endeavor coordinated by the U.S. Department of Energy and the National Institutes of Health. Scientists from around the U.S. and the world contributed to one of the greatest feats of science ever.

The goals of the Human Genome Project were to

• identify all of the approximately 20,000-25,000 genes in human DNA,
• determine the sequences of the 3 billion chemical base pairs that make up human DNA,
• store this information in databases,
• improve tools for data analysis,
• transfer related technologies to the private sector, and
• address the ethical, legal, and social issues (ELSI) that may arise from the project.

If you really want to get into the data, the NCBI Human Genome Resources page offers tons of information about the human genome – you can even download the sequence.

ShareThis