New PBS Documentary, “The Gene,” Features CUIMC Faculty

"The Gene," a new documentary by Ken Burns based on the eponymous book by Columbia oncologist Siddhartha Mukherjee, MD, DPhil, airs April 7 and 14 on PBS and prominently features four other faculty members at Columbia University Vagelos College of Physicians and Surgeons. 

As in the book, the two-part series explores the science and history of genetics and follows the personal stories of individuals—including some of the researchers—struggling with their own genetic legacies.

“This is not a book about genes in the abstract,” Mukherjee told CUIMC News in 2016 when “The Gene: An Intimate History” was first published. 

“I think it’s impossible to write a book about heredity without focusing on what heredity means to you. These are concrete realities that will be carved into your life, into my life, and they already have been.”

Although cancer is Mukherjee's clinical and research focus, the idea for “The Gene” came to him while he wrote his Pulitzer Prize-winning book about cancer, "The Emperor of All Maladies.” “In some ways, 'The Gene' is a prequel to a sequel, like 'Star Wars,' because it explores the idea of what normalcy means before it tips over into abnormalcy,” Mukherjee said.

“The Gene” is also personal: “I had two uncles, a cousin, and several others succumb to variations of schizophrenia and bipolar disease. I wanted to know the genetic roots of that. How does a disease like this happen? Why is it that some people get the genes but might not get the illness?”

The new documentary also explores the advent of new genetic engineering and genome sequencing tools that enable precise, targeted editing of complex genomes. These techniques raise thorny ethical questions, ranging from the privacy of genome sequence data to the moral implications of genetically engineering humans.

Other physicians and scientists from Columbia University Vagelos College of Physicians and Surgeons who appear in the documentary:

Wendy Chung, MD, PhD

When other pediatricians encounter a child with a rare or unknown disease, they often refer the patient to Wendy Chung. Two decades into her career as a clinical geneticist, Chung is a renowned authority on rare genetic diseases, having discovered over 40 novel conditions. Her pioneering study on spinal muscular atrophy led to a new nationwide standard for screening newborns for that condition.

Chung's research encompasses the genetics of a huge range of conditions that are either wholly or partly genetic, ranging from congenital abnormalities to obesity and cancer susceptibility. 

Besides her clinical and laboratory work, Chung is also well known for her teaching and mentoring skills. She supervises medical education in human genetics for VP&S and in 2009 received Columbia University's highest teaching award, the Presidential Award for Outstanding Teaching. 

Chung is the Kennedy Family Professor of Pediatrics and chief of the Division of Clinical Genetics in the Department of Pediatrics.

David Goldstein, PhD

Genetic diseases are often considered to be hard-wired, offering limited treatment options, but David Goldstein's work highlights the potential for life-changing interventions.

At the Institute for Genomic Medicine at Columbia University, which he founded in 2015, Goldstein studies the links between genetic variations and disease, with an eye toward treating patients.

The potential of such precision medicine was made real for one young patient who came to Goldstein’s attention when he was still at Duke University. Goldstein's team used genome sequencing to determine that a toddler with weakening muscles had a rare gene mutation that made her body unable to metabolize vitamin B2. Giving her high doses of oral B2 supplements reversed her symptoms.

“There’s no question that every child with a presumed genetic disease should have their exome sequenced,” Goldstein told CUIMC News in an article about the case. “Sequencing only tells us exactly what a patient has, and what to do therapeutically, a fraction of the time. But it happens often enough that it’s worth doing on a routine basis. Our intention at Columbia is to ensure that any such patients have their genomes carefully interpreted.”

Goldstein has received numerous honors for his research, including being elected a fellow of the American Association for the Advancement of Science, receiving one of the first Royal Society/Wolfston research merit awards in the United Kingdom, and serving on the Advisory Council at the National Institute of Neurological Disorders and Stroke. In addition to being director of the Institute for Genomic Medicine, Goldstein is the John E. Borne Professor of Medical and Surgical Research (in Genetics and Development) (in the Institute for Genomic Medicine and Neurology) and professor of medical sciences (in medicine).

Samuel Sternberg, PhD

Simple interventions may be able to treat some genetic diseases, but many others are harder to address. That's why researchers have been so excited about recent advances in gene editing technology, which holds the potential to alter or fix a patient’s genome. 

Samuel Sternberg is working to improve those new technologies, so they are more precise and potentially safer for use in humans.

Sternberg started his work on CRISPR, the main gene editing system now in use, as a PhD student in the laboratory of gene editing pioneer Jennifer Doudna. He then worked for biotechnology startup Caribou Biosciences in the San Francisco Bay area before coming to Columbia to establish his own laboratory. Since then, his team has made major strides in improving CRISPR, and his work has been covered in the New York Times, the Scientist, and many other news outlets.

When not immersed in research, Sternberg pursues science communication efforts and public outreach in multiple spheres. He presented a TEDMED talk on gene editing in 2015 and, with his thesis mentor Doudna, co-authored a book about it for the general public, "A Crack in Creation: Gene Editing and the Unthinkable Power to Control Evolution."

Sternberg is assistant professor of biochemistry & molecular biophysics.

Nancy Wexler, PhD

Nancy Wexler is best known for her trailblazing study of Huntington's disease that in 1993 identified the gene that causes the disease. The project, which began in 1979, was a tour de force. Wexler traced the relationships in an extended family of over 18,000 people in Venezuela, collected thousands of blood and skin samples from them for genetic analysis, and drew teams of other scientists into the quest for the gene. 

“Biomedical research wasn’t a team sport in the 1980s, not until Nancy got involved, and then it had to be,” said NIH Director Francis Collins, MD, PhD, in a recent article about Wexler in the New York Times.

Huntington's disease, which causes progressive neural degeneration and death, is currently incurable. It also runs in Wexler's family, but until recently, Wexler resisted the idea of getting tested for the gene. 

Wexler disclosed her own test results for the first time this year: She has the disease herself. Thanks in large part to her work, though, a potential treatment is now in development.

Wexler is the Higgins Professor of Neuropsychology in the Departments of Neurology and Psychiatry.