Thank you!
Your support is sustaining the future of local news in our communities.

What story does the DNA tell us?

When I was a Ph.D. student in the late 1960s, a scientist determined the exact DNA sequence that encoded the plan for part of a protein. He and his team sequenced 23 bases of DNA and it took them a year. We thought it was marvelous in concept and execution — and it was.The DNA sequence is a code, just like writing is a code. DNA usually gets translated into proteins, as alphabets get translated into sounds. Both codes have punctuation and the information in a genome and a novel are arranged in a strict order. Novels have chapters, genomes have chromosomes. Reading either code must be quick to be useful. I loved Moby Dick, but if it had taken me six months to read the opening words, “Call me Ishmael,” I would have quit. The striking command that opens the novel contains the alphabet equivalent of 15 DNA bases, including spaces. Even in the 1960s we knew that the human genome contained billions of bases (letters), so sequencing it was unimaginable.But human cleverness intervened. In the late 1970s, two methods to sequence DNA emerged. The one that won out was designed by a modest man named Fred Sanger in the U.K., for which he won his second Nobel Prize. Sanger made it possible to sequence hundreds of bases — the A,C,T and G chemical subunits that make up DNA and, significantly, do it in a couple of days. My lab used to do it and I remember that it involved a lot of radioactivity. It was still a long way from sequencing hundreds of bases to sequencing billions. But the technology improved, the radioactivity dropped out, sequencing became automated and computing improved so that vast amounts of data could be stored and searched. By 1990 it was possible to contemplate sequencing the human genome. The genome from one person was finally sequenced in 2001 and cost $3 billion taxpayer dollars — when that was a lot of money.Now it is becoming possible to sequence a person’s genome for $1,000, which means that $3 billion would be enough for half the population of Connecticut. There are companies who will do it for you. They are making a profit from the idea that your destiny is in your genes. Swab your cheek, send the swab and they will tell you the probability that you will have Parkinson’s disease in 30 years. My advice is: don’t do it. If you suspect that your family harbors some troublesome mutation, call a genetic counselor at a medical center who will advise you on the benefits and risks of DNA sequencing in your personal case. You will get more than a dubious probability.But does this brave new world of DNA sequencing ever justify the $3 billion we spent on it?Yes, actually. To give one example among many: two of my colleagues, Laura Pasqualucci and Riccardo Dalla-Favera are experts in lymphoma, which is a cancer of the cells that make antibodies. The formal name for such tumors is Diffuse Large B Cell Lymphoma. B cells usually mature and stop dividing as they make antibodies that protect us from infection, but sometimes they do not stop dividing and instead form tumors. Only half of the cases can be treated. What makes the untreatable cases different? Do they carry mutations that we don’t know about? If so, what critical cellular processes do the mutations affect?u u uWhen a cell starts to become malignant, it loses control over the maintenance of its DNA. To return to the literary metaphor, it is as if some mad compositor put “Call me Ishmael” in the middle of Moby Dick, shuffled paragraphs and chapters and threw in a lot of typos. The scrambling and mutation of DNA can wreck the normally tight mechanisms that control cell division, which is what happens in lymphoma.What Laura Riccardo and a large team of collaborators did was to recover the tumors of a number of patients and to sequence the DNA of each. This takes a large group of talented people, with scientific and computational acumen, and incredible organization. It depends completely on the information and technologies that were developed for the human genome project.By sequencing the DNA of eight lymphoma tumors, the team was able to figure out what new mutations each tumor contained. (It is, by the way, essential to sequence each bit of DNA many times to avoid errors.) On average, there were 30 specific new mutations in each tumor that had not been known before and they deregulated known biological processes. The authors learned a lot about the biology of the previously untreatable tumors. There are potential therapies to treat the effects of these newly discovered mutations, but nobody knew to use them. Now they do. So that $3 billion paid off in this and many other ways. Richard Kessin, Ph.D, is Professor of Pathology and Cell Biology at the College of Physicians and Surgeons of Columbia University. He and his wife Galene live in Norfolk. He can be contacted at rhk2@columbia.edu.

Latest News

Cornwall Historical Society celebrates Connecticut’s Black patriots

On Saturday, Oct. 24, at the Cornwall Historical Society, author and genealogist John Mills will breathe new life into the stories of some of Connecticut’s more underappreciated patriots. The reason these heroes were forgotten? They were Black.

At a time when white colonists were fighting for their own liberty and political independence, many Black men who fought alongside them remained enslaved. Some risked their lives only to return to bondage. Though enslaved people were promised freedom from both sides of the Revolutionary War in exchange for their service, Great Britain, too, was still deeply dependent on slavery. For Black people in America, the war presented both extraordinary risks and uncertain paths to the freedom that white colonists were demanding for themselves.

Keep ReadingShow less

A sanctuary for second chances

A sanctuary for second chances

Stephanie Saetta runs Charlie Chicken Bones, a sanctuary in Salisbury.

Madi Long
You only get one or two of these soul connection dogs, so I do this in his honor.
— Stephanie Saetta

Stephanie Saetta has spent much of her life caring for others. A physician at White Plains Hospital, she has another calling at home in Salisbury — one that has four legs and a wagging tail. She runs Charlie Chicken Bone Sanctuary, a nonprofit dog rescue that brings dogs from overcrowded pounds and the streets of Texas to foster homes in northwestern Connecticut, where they can begin again.

The sanctuary is named for Charlie, the dog who taught her how special a bond between a person and rescue animal can be.

Keep ReadingShow less
Big ideas come to Lenox for inaugural field festival

Hunter Runnette, founder and board chair of field, has spent years fostering arts and cultural programming in the Berkshires.

Provided

What do joy, gardening, artificial intelligence, the American experiment and the creative process have in common? Quite a lot, as it turns out, at least when some of the world’s most compelling thinkers get together to talk about them.

From Friday, Oct. 23, through Sunday, Oct. 25, Lenox, Massachusetts, will host the inaugural field festival, a three-day gathering of writers, artists, scholars and cultural figures at Shakespeare & Company. Billed as a festival of ideas, entertainment, learning and discovery, field brings together an impressive roster of voices to explore everything from the deeply personal to the profoundly political.

Keep ReadingShow less
google preferred source

Want more of our stories on Google? Click here to make us a Preferred Source.

The Pink House AM is serving up community

Mare Rubin and Maggie Levine of the Pink House AM.

Madi Long

It all started with a yoga class. Mare Rubin was working on her second act after leaving the Upper West Side, where she’d raised a family and worked in corporate marketing. Newly empty nesters, she and her husband decided to move to the wilds of northwestern Connecticut, where they had spent 15 years as weekenders, to see what life in the woods had in store for them.

Rubin started teaching yoga classes at the Union in West Cornwall, a space designated by the town of Cornwall as a community hub with couches, Wi-Fi, occasional events and a growing yoga class schedule. She was adjusting well but missed one important thing about city life: a casual coffee shop.

Keep ReadingShow less
Sons of Astro are musicians, friends and bandmates — in that order

The Sons of Astro will be at the Common Pub in Housatonic on Oct. 24 and the 2nd Home Lounge in Winsted on Nov. 14.

Provided

No matter where they are in the world, musicians seem to find other musicians. There’s a shared language, a shared experience of being on stage and performing, and a shared enthusiasm for making those melodies by themselves or together. Such is the case with Norfolk and Brooklyn-based cosmic Americana band Sons of Astro.

That magnetic musicians’ bond drew Brooklyn-based singer-songwriter and multi-instrumentalist Mike Cobb into the orbit of singer-songwriter and multi-instrumentalist Matt Statler. The two neighbors took to each other right away and were soon playing open mics together. As an ethics professor at NYU’s Stern School of Business, Statler made the case that if he sat in for Cobb’s set and Cobb sat in for Statler’s, they could play together and double their stage time. Clearly, these men wanted to make as much music as possible. That became a little harder when Cobb and his family moved up to Norfolk, Connecticut.

Keep ReadingShow less
One more weekend to get inside the art at ArtEast

The participating artists in this year’s ArtEast open studios.

Provided

ArtEast’s annual October Open Studio Tour is already underway, but there’s still one more weekend to step inside the creative worlds of artists working throughout eastern Dutchess County. On Saturday and Sunday, Oct. 24 and 25, artists will once again open their studio doors, inviting visitors to see where the work happens, meet the people who make it and perhaps discover something worth taking home.

Now in its 21st year, the ArtEast October Open Studio Tour offers a self-guided journey with participating studios in Holmes, LaGrangeville, Hopewell Junction, Pawling, Patterson, Poughquag and Wingdale. Visitors can explore painting, photography, sculpture, mixed media and other artistic practices, and get some leaf-peeping in at the same time.

Keep ReadingShow less
google preferred source

Want more of our stories on Google? Click here to make us a Preferred Source.

google preferred source

Want more of our stories on Google? Click here to make us a Preferred Source.