Mount Sinai Spin-Off to Revolutionize Diagnostics

Sep 11, 2017 | Featured, Research, Your Health

Lisa Edelmann, PhD, Chief Diagnostics Officer, Sema4, and Eric Schadt, PhD.

Eric Schadt, PhD, a pioneer in big data and systems biology and Founding Director of the Icahn Institute for Genomics and Multiscale Biology, recently launched Sema4, a new venture at the Mount Sinai Health System that is looking to revolutionize clinical diagnostics and offer sophisticated genetic testing to doctors and patients across the country.

Operating as an independent, for-profit company based in Stamford, Connecticut, Sema4 (pronounced semaphore) will continue to collaborate closely with Mount Sinai. The company is combining comprehensive genetic screening, diagnostic testing, predictive modeling, and open access data to create innovative tools that enable patients and their physicians to make more informed decisions about patient health.

The first spin-off of its kind at Mount Sinai, Sema4 has a staff of more than 350, including many scientists, doctors, engineers, clinicians, and genetic counselors from the Icahn Institute and the Department of Genetics and Genomic Sciences. Mount Sinai’s significant investment in Sema4 reflects its commitment to genetic research, diagnostics, and next-generation treatments.

Sema4 will build upon Mount Sinai’s success in genetic testing under the leadership of Lisa Edelmann, PhD, the long-time Executive Director of the Mount Sinai Genetic Testing Laboratory in New York City, who now serves as Sema4’s Chief Diagnostics Officer, and Todd Arnold, PhD, Chief Laboratory Operations Officer.

“By creating Sema4, we can bring this tremendous expertise to a national audience and use what we learn from the broader population to help us deliver better care to our Mount Sinai patients,” says Kenneth L. Davis, MD, President and Chief Executive Officer of the Mount Sinai Health System.

“The creation of this company represents a major investment in genomics and in the clinical sphere, which will allow Sema4 to grow as a commercial entity and bring to market more sophisticated tests for patients at Mount Sinai and around the country,” says Dr. Edelmann.

With the launch, Sema4 began offering the high-quality genetic testing developed through years of research and patient interaction at Mount Sinai. This includes Expanded Carrier Screen (formerly NextStep), which tests for 281 genetic diseases by using six different technologies to provide more accurate and meaningful results for patients.

As part of its national expansion, Sema4 recently launched CarrierCheck™, the only carrier test that screens for 67 inherited conditions and can be ordered online by consumers. CarrierCheck, a simple, saliva-based test, was developed in collaboration with Helix, a personal genomics company based in the San Francisco Bay Area. Sema4 also launched a new test that analyzes key cancer genes to help doctors personalize cancer therapy. In the future, Sema4 will offer new and enhanced, non-invasive prenatal and supplemental newborn screening tests.

The more data Sema4 collects through its tests, the more information it will have to develop better insights, computer models, and predictions that can be used to help transform the way diseases are diagnosed, treated, and prevented, says Dr. Schadt, Sema4’s Chief Executive Officer, who also serves as Dean for Precision Medicine at the Icahn School of Medicine at Mount Sinai and the Jean C. and James W. Crystal Professor of Genomics.

“We would like to create larger sets of data about patients that they and their doctors can analyze to make the best health care decisions,” Dr. Schadt says. “Our bet is that medicine will become much more of an information science, and providers who can master the information and base meaningful decisions on that data will be able to better serve their patients.”

Dennis S. Charney, MD, Anne and Joel Ehrenkranz Dean, Icahn School of Medicine at Mount Sinai, and President for Academic Affairs, Mount Sinai Health System, says, “We look forward to collaborating closely with the Sema4 team and to rapidly deploying the tools they develop throughout the Mount Sinai Health System.”

For additional information about Sema4, please go to sema4genomics.com or call 800-298-6470.

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Metro New York’s Ask Mount Sinai: People of Color are at Risk of Skin Cancer, Too

Updated on Jun 30, 2022 | Your Health

People of color have higher rates of skin cancer in skin with less pigment that is not exposed to sunlight often, such as the palms and bottom of the feet, according to Meera Sivendran, MD, Assistant Professor of Dermatology at the Icahn School of Medicine at Mount Sinai and a physician at The Mount Sinai Health System’s Skin of Color Center, which specializes in treating the unique needs of patients with pigmented skin, hair, and nails.

Read the article in Metro New York 

Beyond Asthma: Could Subglottic Stenosis Cause My Noisy Breathing?

Updated on Jun 30, 2022 | Your Health

Matthew C. Mori, MD

Frustrated by a year of increasingly difficult breathing, a 39-year-old female patient sought relief in the office of Matthew C. Mori, MD, a laryngologist at the Grabscheid Voice and Swallowing Center of Mount Sinai. Despite aggressive asthma treatment, nothing had helped. When he asked the patient to take a deep breath, Dr. Mori could hear noisy “stridor”—a high-pitched breath sound caused by upper airway obstruction—from across the room. Stridor is subtly distinct from the expiratory wheezes of an asthmatic. On further examination, Dr. Mori discovered the source of her breathing difficulty: subglottic stenosis.

What Is Subglottic or Tracheal Stenosis?
Subglottic or tracheal stenosis is a narrowing of a portion of the subglottis or trachea. The trachea is our “windpipe,” which connects our throats with our bronchi and lungs. Just above the trachea is the larynx, or “voice box,” which contains our vocal cords. The airway opening between the vocal cords is called the “glottis.” Just below the glottis, and above the trachea, is the subglottic airway. The narrowing of this portion typically involves a very short segment of the airway.

What Causes Subglottic or Tracheal Stenosis in Adults?
Among adults, subglottic or tracheal stenosis can result from trauma, tumors, or a history of tracheostomy and prolonged intubation (for example, having a breathing tube in during a long stay in the intensive care unit). It can also be caused by systemic diseases such as amyloidosis, autoimmune diseases such as Wegener granulomatosis, history of radiation therapy to the neck, and infection. With such a wide variety of causes, anyone can be at risk. The patient who contacted Dr. Mori was diagnosed with idiopathic subglottic stenosis (iSGS). Idiopathic means the cause is unknown. Interestingly, iSGS is found primarily in Caucasian women. Dr. Mori, an Assistant Professor of Otolaryngology at the Icahn School of Medicine at Mount Sinai, works within the Division of Laryngology, part of the North American Airway Collaboration (NOAAC), which has ongoing research to find the underlying cause of and best treatments for iSGS.

How to Distinguish Between Asthma and Subglottic or Tracheal Stenosis
According to Dr. Mori, if a patient comes for an evaluation, tracheal or subglottic stenosis can be diagnosed by the end of the appointment. During an evaluation, Dr. Mori performs a detailed history and physical exam which involves examining the throat and the windpipe with a flexible laryngoscope. Direct visualization shows whether there is narrowing. A patient can have both asthma and stenosis. It is important for patients to see a pulmonologist to undergo evaluation for asthma.

What Are the Treatment Options?
Patients with mild cases of  subglottic or tracheal stenosis may not require treatment. It is important to examine these patients at regular intervals to assess for progression of disease. For those undergoing treatment, options depend on severity and can include medications, surgery, or both. Medical treatments include anti-inflammatory medications such as corticosteroids, antibiotics, and anti-reflux medication that treats gastroesophageal reflux (GERD). Anti-reflux therapy is usually combined with diet and lifestyle changes to reduce stomach acid production and reflux. Every patient is different, so specific medication regimens are tailored to the underlying causes. In-office or surgical procedures include steroid injection, endoscopic dilation with balloon or metal dilators, endoscopic resection of the stenosis with laser therapy or microinstruments, and external approaches through the neck. The most common type of open surgery is cricotracheal or tracheal resection and involves resection of the narrow scarred segment.

To make an appointment with Dr. Matthew Mori, call 212-241-9425.

Signs and Symptoms of Subglottic or Tracheal Stenosis:

  • Difficulty breathing, with a high-pitched noise when inhaling (at rest or with exercise)
  • Coughing
  • Fatigue
  • Exercise intolerance
  • Malaise, or an overall feeling of being tired or ill
  • Pauses in breathing, or apnea
  • Chest congestion
  • Voice changes

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