Featured | Mount Sinai Today

Tenth Episode of Mount Sinai Future You

Mar 5, 2019 | Featured, Future You

Episode 10 of Mount Sinai Future You features a family of strong women who have had a history of breast cancer for generations. With the care and treatment offered by the Dubin Breast Center, founded by Eva Andersson-Dubin, MD, these women were able to fight breast cancer. Other stories include:

Amy Tiersten, MD, Professor, Hematology and Medical Oncology, offers her patients the opportunity to participate in cutting-edge clinical trials for breast cancer
Gabriel Sara, MD, Medical Director, Chemotherapy Infusion Suite, Executive Director, Patient Services Initiative, shares the importance of music therapy for cancer patients following a benefit concert for the Helen Sawaya Fund
Alison Snow, PhD, LCSW-R, OSW-C, Assistant Director, Cancer Support Services, discusses how a writing workshop offers patients the opportunity to express themselves
Ash Tewari, MD, Chairman, Milton and Carroll Petrie Department of Urology, raises awareness for prostate health with the opening of Man Cave Health
Michael A. Palese, MD, Chair, Department of Urology, Mount Sinai Downtown-Union Square, shares his Mount Sinai connection from birth through his professional career
A group of former Mount Sinai patients with a love of music share their gift in the lobby of the hospital
Saad Chaudhary, MD, MBA, Assistant Professor, Orthopedics, performs an artificial disc replacement on a patient who had a traumatic bike accident
Alice H. Huang, PhD, Assistant Professor, Orthopedics, researches how to heal and regenerate injured tendons
Arne Glimcher, Board of Trustee, commissions a sculpture on display in the lobby of the Hess Center

Watch other episodes of Mount Sinai Future You

Uncovering the Biology of Neurodegeneration

Mar 5, 2019 | Featured, Research

Ivan Marazzi, PhD

Ivan Marazzi, PhD, Assistant Professor of Microbiology at the Icahn School of Medicine at Mount Sinai, received $2.5 million in funding from the Chan Zuckerberg Initiative (CZI) to further the understanding of the underlying causes of neurodegenerative disorders such as amyotrophic lateral sclerosis (commonly known as Lou Gehrig’s disease), and Alzheimer’s and Parkinson’s diseases.

The Initiative was established by Facebook founder Mark Zuckerberg and pediatrician Priscilla Chan, his wife. The award is part of a $64 million commitment to fund early-career investigators and collaborative science teams to launch the CZI Neurodegeneration Challenge Network, which aims to bring together basic scientists from neuroscience, cell biology, biochemistry, immunology, and genomics.

Cori Bargmann, PhD, Head of Science for CZI, says: “We’re excited to welcome the first group of CZI Neurodegeneration Challenge Network grantees. Together, their work will increase our knowledge of the basic biology of these diseases—and we need that knowledge to develop better treatments.”

Dr. Marazzi studies epigenetic- and chromatin-mediated mechanisms—the heritable alterations that cause genes to turn on or off—and the cellular response to pathogens or cellular differentiation. The major focus of his research is the unique and shared molecular pathways underlying inflammatory, infectious, and neurodegenerative diseases to uncover the relationship between seemingly unrelated diseases to find effective therapeutic interventions.

Earlier work from Dr. Marazzi provided a new paradigm for how mutations can confer both susceptibility to infection and predisposition to neurodegeneration. He was the senior investigator of two groundbreaking studies published in Nature Immunology and Cell that identified a link between innate immune dysfunctions and congenital defects in two proteins controlling RNA metabolism—the RNA exosome and senataxin.

“These studies revealed how we can discover genes linked to disease—in this case, neurodegeneration—by looking at the natural symbiosis between a host and a pathogen,” says Dr. Marazzi. “Our goal is to use this discovery as a foundation to elucidate the relationship between innate immune defects and neurodegeneration to find effective therapeutic interventions.”

Educating Providers on the Impact of Climate Change

Mar 5, 2019 | Featured, Research

From left: Robert O. Wright, MD, MPH; Emily Senay, MD, MPH; Allan Just, PhD, Assistant Professor of Environmental Medicine and Public Health; Perry E. Sheffield, MD, MPH, Assistant Professor of Environmental Medicine and Public Health; and Roberto Lucchini, MD.

Climate change is taking a toll not just on the environment, but also in the clinic, with a rise in asthma, cardiovascular disease, insect-borne viruses, and heat-related death. That was the urgent message of the inaugural Clinical Climate Change conference, hosted by Mount Sinai’s Institute for Exposomic Research. Panelists at the event, held on Saturday, January 12, at the New York Academy of Medicine, included environmental advocates and leaders in the study of environmental medicine and public health.

The conference aimed to provide public health professionals, policymakers, physicians, nurses, medical students, and allied health professionals with a base of up-to-date evidence to inform patient treatment and care as the global average temperature continues its steady rise. “Air pollution is a major driver of the health consequences of climate change,” said Robert O. Wright, MD, MPH, Professor and Ethel H. Wise Chair of the Department of Environmental Medicine and Public Health, and Director of the Institute for Exposomic Research, Icahn School of Medicine at Mount Sinai. “In addition to conditions you would expect to increase, such as asthma and other lung diseases, our research shows that there are many downstream effects.” For example, Dr. Wright and several other panelists focused on fine particulate matter (PM2.5) from air pollution, which causes inflammation in the body that is associated with neurotoxicity, neurodevelopmental disorders, and increased insulin resistance.

Heat-related conditions are of particular concern for outdoor workers. Thousands become sick every year, and many die, due to these preventable illnesses, said Roberto Lucchini, MD, Professor of Environmental Medicine and Public Health, Icahn School of Medicine. “Studies show that recurrent heat exposure, with physical exertion, inadequate hydration, and exposure to chemicals, can lead to chronic kidney disease,” he said. “There is an epidemic of this disease among worker populations in Central America. We have to prepare health care workers in northern areas to be aware of the condition.”

In addition to these critical warnings, speakers presented actionable tools for clinicians both to better inform patients and to modify their practice. “Physicians can explain the importance of paying attention to heat and poor air-quality days,” said Emily Senay, MD, MPH, Assistant Professor of Environmental Medicine and Public Health, Icahn School of Medicine. “This is especially important for vulnerable patients who are elderly or chronically ill.” During a heat wave, clinicians might consider adjusting some medications, like diuretics, which reduce the ability to lose heat by sweating. And they should advise patients to close windows and use air conditioning to limit exposure to air pollution but also to be conscious of indoor pollutants like mold and fumes from cleaning products.

Physicians were encouraged to prepare for an influx of diseases previously unseen in their population, particularly those carried by insects. A warming climate will make habitats more hospitable to disease-carrying insects, such as mosquitoes and ticks, exposing a larger swath of the population to diseases such as Lyme disease, Zika virus, and dengue fever.

Another concern is that weather events, such as hurricanes and floods, are becoming more extreme as a result of climate change. Superstorms of recent years, like Hurricane Sandy, are leading to a shift from an “emergency response” model to a more forward-looking “risk mitigation” approach, said George Loo, DrPH, MPH, Assistant Professor of Emergency Medicine, and Population Health Science and Policy, Icahn School of Medicine. That includes moving critical infrastructure out of flood prone areas and developing extensive logistics for managing transportation, power, security, and staffing. In addition, Dr. Loo said, “Health care workers need to first have a plan to take care of themselves and their families. Knowing that your family is safe and that you have a way to contact them will reduce stress and help you focus on your patients.”

Physicians play an important role in helping patients understand how climate affects the health of individuals and how, at a population level, humans affect the environment, Dr. Senay said. With a nuanced approach, she added, providers can improve environmental literacy and open the door to discussions about how walking more, eating a plant-based diet, and advocating for renewable energy can make both the planet and patients healthier.

Department of Neuroscience at the Icahn School of Medicine at Mount Sinai Ranked No. 1 in Nation in NIH Funding

Updated on Jun 30, 2022 | Featured, Research

The Nash Family Department of Neuroscience at the Icahn School of Medicine at Mount Sinai received the most biomedical research funding from the National Institutes of Health (NIH) of any medical school neuroscience department in the nation in 2018, according to data compiled and released by the Blue Ridge Institute for Medical Research.

Paul J. Kenny, PhD

Seven other academic and clinical departments at the Icahn School of Medicine ranked among the top 10 nationally. They were Microbiology (No. 3), Emergency Medicine (No. 4), Pharmacology (No. 4), Genetics (No. 5), Anatomy/Cell Biology (No. 6), Psychiatry (No. 6), and Neurology (No. 10). Altogether, these seven disciplines and Neuroscience at Mount Sinai were awarded $184 million from the NIH in 2018.

The Neuroscience Department’s No. 1 ranking reflects $31.2 million in awards received during the NIH’s 2018 fiscal year and includes 41 awards for which department faculty members are Principal Investigators.

“We are thrilled by this outstanding achievement, which is a milestone for the neuroscience community at Mount Sinai. This is a testament to the outstanding quality of our faculty, postdoctoral fellows, graduate students, and staff, and reflects the cutting-edge research conducted in our laboratories,” says Paul J. Kenny, PhD, Chair of the Department. “These highly competitive funds enable Mount Sinai researchers to pursue initiatives that advance understanding of human health and disease and to swiftly develop treatments and technologies that will change the lives of patients worldwide.”

Eric J. Nestler, MD, PhD

Each year, Blue Ridge releases its analysis of NIH funding, ranking individual departments by total award dollars.

“Through a large, multidisciplinary effort that involves numerous basic science and clinical departments, we have made impressive strides in understanding how the nervous system functions under normal conditions and malfunctions in disease, making us uniquely poised to translate these advances into fundamentally new and improved treatments for some of the world’s most devastating disorders,” says Eric J. Nestler, MD, PhD, Nash Family Professor of Neuroscience, Director of The Friedman Brain Institute, and Dean for Academic and Scientific Affairs at the Icahn School of Medicine at Mount Sinai.

Dubin Gala Honors Champions of Breast Cancer Care and Awareness

Updated on Jun 30, 2022 | Featured, Patient Stories

At the benefit gala, from left: Elisa Port, MD, FACS; Eva Andersson-Dubin, MD; and Amy Tiersten, MD.

A leading physician-scientist and three “passionate champions” of breast cancer awareness were honored by the Dubin Breast Center of The Tisch Cancer Institute at the Mount Sinai Health System at its eighth annual benefit. The celebratory event, held on Monday, December 10, at the Ziegfeld Ballroom in Manhattan, attracted 520 guests and raised $2.6 million to support the Center’s breast health and treatment programs.

The three “champions” were Melissa Spohler, Meredith Shepherd, and their mother, Priscilla Alexander—all diagnosed with breast cancer in their 50s. “This is a family of women who have strength. They have integrity, they are kind, they give to others,” says Eva Andersson-Dubin, MD, founder of the Dubin Breast Center and Mount Sinai Health System Trustee, who presented awards to the honorees with Elisa Port, MD, FACS, the Center’s Director. “These are women we should all look up to as role models to see how they deal with breast cancer.”

Also honored at the gala was a “spectacular clinical investigator,” Amy Tiersten, MD, Clinical Director of Breast Medical Oncology, The Mount Sinai Hospital, and Professor of Medicine (Hematology and Medical Oncology), Icahn School of Medicine at Mount Sinai. “I have really poured a lot of lifeblood and energy into building a research program and clinical practice and collaborating with all the wonderful other physicians at the Dubin Breast Center,” says Dr. Tiersten, who specializes in metastatic breast cancer. “Through Dr. Tiersten’s research, we can provide our patients with the next generation of treatments—treatments that provide hope,” Dr. Port says.

The event included music by accomplished performers, including LaChanze, Ariana DeBose, and Storm Lever from Summer: The Donna Summer Musical on Broadway. And Ms. Alexander, 81, gave a moving speech about the Dubin Breast Center, saying that it did not yet exist when she was treated with cancer at age 53, but it now provides “great comfort” to her daughters and other patients.

From left: honorees Melissa Spohler, Priscilla Alexander, and Meredith Shepherd

“My daughters are part of a sisterhood at the Center,” Ms. Alexander says. “They have the good fortune of being watched over by the best professionals in their specialties, trained at the cutting edge of testing, diagnosis, treatment, emotional support, and ongoing research.” As a patient at another New York City hospital 28 years ago, Ms. Alexander had a double mastectomy and took an early test for a BRCA (breast cancer susceptibility) gene mutation. The test was negative. But because her mother and four of her six female cousins had all been treated for breast cancer, Ms. Alexander urged her four daughters to be vigilant. Ms. Shepherd says, “In hearing my family’s history, everyone’s first question is ‘Are you a BRCA family?’ I always say, ‘No, we’re a something family, it just hasn’t been found yet.’”

Ms. Spohler, 56, had at least one breast screening test every six months starting at age 40. In March 2016, a radiologist saw ambiguous “bright spots” on an MRI, and six months later an ultrasound identified breast cancer. “I was lucky because it was discovered when it was small,” Ms. Spohler says. “I had a double mastectomy because I didn’t want to live with the fear of it coming back.” Ms. Shepherd, 52, was diagnosed with breast cancer in August 2018. Her radiologist saw a small mass in her right breast, and a biopsy found that it was a benign growth called a papilloma. Ms. Shepherd says she went “right away” to Dr. Port, who had also treated her sister. As part of a preoperative check before removing the growth, Dr. Port ordered an MRI. That test discovered breast cancer unrelated to the papilloma, and Ms. Shepherd also had a double mastectomy.

All of the honorees say the key to early detection is awareness. “I would say to any woman that if you have breasts, you are potentially at risk,” Ms. Spohler says. “You have to monitor yourself. You have to know your own history and know your family’s history, because that is what might save you.”

Consortium Sheds New Light on Brain Disorders

Updated on Jun 30, 2022 | Featured, Neuroscience, Psychiatry, Research

From left: Kristen Brennand, PhD, Associate Professor, Neuroscience, Genetics and Genomic Sciences, and Psychiatry; Prashanth Rajarajan, MD/PhD candidate; and Schahram Akbarian, MD, PhD, Professor, Psychiatry, and Neuroscience.

Reprinted with permission from AAAS.

More than two dozen researchers at the Icahn School of Medicine at Mount Sinai are advancing brain science by mapping the complex molecular underpinnings of autism spectrum disorder, schizophrenia, and bipolar disorder through their work in the National Institute of Mental Health’s (NIMH) PsychENCODE Consortium. Since this work began in 2015, their contributions—and that of their PsychENCODE colleagues from 14 other U.S. institutions—have helped identify several hundred new risk genes for mental disorders. The research has also revealed critical time windows during brain development when these genes can influence the disease process.

In December, the Consortium published its initial findings in 10 studies that appeared in Science, Science Translational Medicine, and Science Advances. The researchers analyzed more than 2,000 postmortem brain samples from people with no psychiatric conditions and those with schizophrenia, autism, and bipolar disorder. They created and then integrated data sets that included information on DNA variations and gene expression for about 32,000 cells from major regions of the brain. Then the investigators employed machine learning to create a predictive model of risk for the psychiatric disorders.

Their seminal findings received an enthusiastic response from the NIMH. “The PsychENCODE project came through,” said Thomas Lehner, PhD, MPH, Director of the Office of Genomic Research Coordination at the NIMH. “We’re at the beginning—I cannot overstate how early we are. But I can confidently say that for the first time we have a beginning of an understanding of the biology—the molecular pathophysiology of mental disorders—of schizophrenia, and bipolar and autism spectrum disorder.”

Unraveling the Complexity of the Human Brain

“Exploring how the human genome is folded and packaged into the nucleus of each of our billions of brain cells was both awe-inspiring and humbling at the same time,” says Prashanth Rajarajan, MD/PhD candidate at the Icahn School of Medicine at Mount Sinai, who was first author on seminal brain research that was published in the December 14, 2018, issue of Science.

The scientific team discovered that early development is associated with major changes in the spatial organization of DNA inside of brain cells. These changes in how the chromosomal material is packed seem to disproportionately affect DNA sequences linked to schizophrenia heritability risk and provide new insights into the genetic causes underlying this disease.

The study, which was conceived and executed at the Icahn School of Medicine, included senior authors Schahram Akbarian, MD, PhD, Professor, Psychiatry, and Neuroscience; and Kristen Brennand, PhD, Associate Professor, Neuroscience, Genetics and Genomic Sciences, and Psychiatry. Colleagues at the New York Genome Center and the University of Massachusetts also contributed to the study.

According to Mr. Rajarajan, “There is so much more to the genome than just the four-letter DNA code (A, T, C, G)—such as its folded architecture, which is a highly organized and regulated process. Eighteen years after fully sequencing the human genome, we still understand very little about how it actually comes to life. Our study, and the others that were published, are beginning to unravel more nuances than previously imagined, making it a really exciting time to be in the field of neuroscience and psychiatry research.”

NIMH Program Director Geetha Senthil, PhD, added that the massive scope of the project required a “concerted effort. Many investigators had to come together and do this collectively.” While the mental disorders in the studies are distinct, Dr. Senthil said, “There are some aspects where the biology is similar. The genes interact with each other in a way to influence the disease process. If we can find biological clues early on, we can intervene early on. While we are building and generating more data, analyzing this data to find basic mechanisms, there’s an opportunity also for drug discovery.”

The 10 papers published by the PsychENCODE Consortium were dedicated to the late Pamela Sklar, MD, PhD, former Chair of the Department of Genetics and Genomic Sciences at the Icahn School of Medicine, and a pioneer in genomic brain research, who was an early leader of the NIMH effort. The Icahn School of Medicine last year renamed the division she created the Pamela Sklar Division of Psychiatric Genomics.

Mount Sinai laboratories within The Friedman Brain Institute, The Seaver Autism Center for Research and Treatment, the Department of Psychiatry, The Mindich Child Health and Development Institute, the Department of Genetics and Genomic Sciences, the Department of Neuroscience, and the Icahn Institute for Data Science and Genomic Technology were involved in the PsychENCODE Consortium.

“Mount Sinai serves as one of the lead sites in this national consortium. The discoveries that are being made by our scientists and their colleagues at other major institutions are moving us closer to understanding and finding treatments for these devastating brain disorders,” says Eric J. Nestler, MD, PhD, Nash Family Professor of Neuroscience, Director of The Friedman Brain Institute, and Dean for Academic and Scientific Affairs, Icahn School of Medicine at Mount Sinai.