Unlocking the Depths of our
Genetic Code
words by Susan Glick
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er office is quietly decorated with diplomas, many diplomas, and two posters stating she is a “top doc” in the New York metropolitan area. She’s been listed among New York magazine’s best doctors nine times since 1999, but, surprisingly, she says she feels just average in her field. Clearly, Susan Sklower Brooks, MD, is a “master,” not only of clinical genetics but of understatement. Her choice of words, demeanor, and presentation can easily belie her wealth of knowledge and experience in her field.
Sklower Brooks began her career in medicine at Rutgers Medical School, now UMDNJ-Robert Wood Johnson Medical School (RWJMS), in 1971. She returned to RWJMS in 2004 to start the Division of Medical Genetics, a joint venture between the Department of Pediatrics and the Department of Obstetrics, Gynecology and Reproduction Sciences. Between 1975 and 2004, Sklower Brooks’ professional life was centered at the Institute for Basic Research for Developmental Disabilities (IBRDD) in Staten Island. While there, she became the director of the Comprehensive Genetics Disease Program and headed the biochemical genetics laboratories. During this time, she was also volunteer faculty at Mt. Sinai Medical School and lectured at Sarah Lawrence College. Interestingly, one of the more frequent words on her CV is simply scientist.
She says that being a woman did not play a role in her decision to enter medicine, pediatrics or genetics. She was always interested in genetics. When she began her career, genetics was a subspecialty of pediatrics, which historically has attracted more women practitioners than other fields. Although she did not face any unusual challenges as a female geneticist, she vividly recalls the difficulty of juggling career and family. “Working women need support when their children are young. It is very, very difficult. I was fortunate to have good support.”
Susan Sklower Brooks, MD, associate professor, UMDNJ-Robert Wood Johnson Medical School, Camden
Sklower Brooks embarked on her career at a time of burgeoning growth in genetics. The stage was set in 1953, with the determination of the DNA double-helix. Pricking newborns’ heels for metabolic or inborn errors of metabolism began in the 1960s. In the 1970s, the field had a second blossoming and has never slowed down. Recombinant DNA, principles for sequencing the chemical letters of DNA, and other analytical foundations were developed. The 1990s gave birth to the Human Genome Project (HGP), aimed at sequencing all three billion letters of the complete set of DNA in the human body.
What inspired the explosive growth of the study of genetics? Without a doubt, the first stage of acceleration was fueled by enhanced computerized computational muscle. Computers with ever-expanding capacity, coupled with the world-wide Internet, have provided researchers the ability to investigate, compute and compare massive amounts of information—from individual case histories to public domain genomic data in online databases — with lightening speed.
“No doubt, one of the biggest changes in the field since I have started is the research and diagnostic capabilities through the computer. What took me hours as a student now takes me a fraction of the time.”
It’s not only time, but the critical sharing of information that enables a clinical geneticist to sleuth for answers to patterns of mental and physical growth and development that may signal an underlying genetic profile. Sklower Brooks has added her own answer to the metaphorical library with a syndrome she recognized while at the IRBDD. She saw a family with two sons with mental retardation and similar dysmorphology. Some years later, unbeknownst to her, she chanced to meet the brothers’ sister, who had a newborn with similar manifestations. Only when she understood the newborn was the nephew of the two boys seen years earlier did she confirm that the pattern was the result of an X-linked syndrome, now termed Brooks Syndrome. Among her many other accomplishments, Sklower Brooks also contributed to the development of tests to recognize Batten syndrome, a neurodegenerative disorder of childhood.
A second growth burst in the genetics field was the result of the development of more sophisticated techniques and technologies, which allow a previously unimaginable ability to see into our chromosomes. “There are new technologies, such as microarray testing, that allow us to see the smallest of changes. In 1959, we could see a single extra chromosome in Down syndrome. Later we could see when one-half of a chromosome was altered or irregular. With current techniques, we can witness less than 1/10th of a chromosome missing, called a micro-deletion. Now some families can finally get a diagnosis. ” Microarray technology, like the second stage of an ascending rocket, is propelling genetics to previously uncharted heights, enabling scientists to examine the microscopic composition of a single gene, or the expression of hundreds or thousands of genes at once.
As new doors open, so does the universe of questions behind those doors. Whereas early geneticists examined diseases clearly defined by genetic components, such as cystic fibrosis or Tay Sachs, current geneticists eye the realm of more common conditions, such as diabetes, cancer and obesity. Now, for example, individual studies can be publically accessed through National Institute of Health databases designed to aggregate studies and further facilitate understanding of multifactorial genetic disorders, the more typical diseases of adult life. Says Sklower Brooks: “What are genes? They influence all parts of our lives. What we look like and how we grow. They can even influence which flu we get. Everyone may get sick, but some individuals may have a predisposition to certain infections or diseases because of their genes.”
Sklower Brooks’ oldest patient is in his 80s. “Newborn screening is just a small part of our service. Our referrals come from a full range of physicians and encompass patients throughout the lifespan. These patients, and their physicians, come looking for a diagnosis, a reason why something is the way it is and how to prevent or change it.”
And how does she do that? First, she takes a history, perhaps some blood samples and conducts other tests, and does her homework. Next, she applies her internal database of knowledge and experience. If she can find a conclusive diagnosis, she is happy. Does telling someone they have a genetic condition constitute bad news? After all, unlike infectious diseases or other medical states, treatments and cures for mainly genetically-based conditions are fewer and harder to find. “Fortunately, however, this is changing as new treatments, such as enzyme replacement therapy, move the role of the geneticist from diagnostics to therapeutics,” says Sklower Brooks.
“I find the worst news I deliver is during prenatal visits, when I must tell a couple the child they are carrying has significant problems. Once the child is here, born and part of the family, giving the diagnosis is news, but not necessarily bad news. They have lived with their child for years, and likely provided to the child a myriad of treatments, and they would never change that,” she states.
“For the parents, it is a relief to finally have an answer. These families have been searching for an answer and want to know why. I have some families that come back for years until we find the answer. They will shop from physician to physician trying to find what it is. As humans we want to know why,” she continues. “And when you put a name on it, such as XYZ syndrome, there is a relief. There is someone else who has the condition or knows what to expect. I don’t always have a specific diagnosis, but I will try and find it if I can.”
Why has this genetics expert been named a “top doc” so often? Most likely it’s her combination of acquired wisdom and experience, along with her determination to investigate every path of knowledge in her search for an answer. And, perhaps, it is also her humility, and deference to others, acquired by frequently confronting the depths of unlocked genetic code inside each of us.