What You Need to Know About Participating in Autism Research at Mount Sinai


Clinical research is critical to advance our understanding of the causes of neurodevelopmental disorders and to develop effective treatments. The Seaver Autism Center for Research and Treatment at Mount Sinai maintains an active clinical research portfolio with a variety of recruiting studies at any given time.

Individuals on the autism spectrum as well as those with certain related genetic syndromes may be eligible to participate. The Seaver Center’s Rare Disease Program studies Phelan-McDermid syndrome, ADNP syndrome, FOXP1 syndrome, and DDX3X syndrome. Areas of focus include biomarker discovery, natural history studies, and clinical trials.

In addition to valuable contributions to science, the Seaver Center team works hard to ensure study participation is an enjoyable and low stress experience. When reflecting on their experiences, Seaver Autism Center families often recall a sense of warmth and trust.

One parent, Sakia, felt touched by how happy her son is whenever her family arrives for a visit: “As soon as he walks in, he’s running in, running into rooms, and it doesn’t bother anybody. Everyone is very welcoming.”

Paige Siper, PhD

In this Q&A, Paige Siper, PhD, Chief Psychologist of the Seaver Center, explains how research studies are conducted, the benefits of participating, and how you or someone you know can get involved.

What happens at a research study visit?

Research visits include standardized assessments administered by the clinical research team. Our multidisciplinary team spans psychiatry, psychology, and neurology, including a robust training program of psychology and psychiatry students and fellows. For idiopathic autism studies, gold-standard diagnostic testing, including the Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) is administered to determine eligibility. For studies in genetic syndromes, results from genetic testing are reviewed to confirm eligibility. Most studies include cognitive and adaptive assessments. Results from clinical assessments are summarized in a research report and include personalized recommendations provided to families free of charge. Many research studies include our biomarker battery which includes electroencephalography (EEG), eye tracking and, in certain studies, brain imaging using functional magnetic resonance imaging (fMRI).

What are the benefits of participation?

In line with the Seaver Center’s mission, the goal of the clinical research program is to enhance the diagnosis of autism and related disorders, discover biological markers, and to develop and disseminate breakthrough treatments. Research participation is necessary to achieve these long-term objectives.

In addition to helping future generations through medical advancements, as mentioned above, research participants receive results from clinical testing in the form of a research report with recommendations at no cost. These reports may be used to access necessary services both within and outside the school setting.

Who can participate?

Every study has specified enrollment criteria and therefore eligibility varies by study. The Seaver Autism Center has a number of ongoing research studies and encourages you to reach out to the team to discuss studies you or your child may be eligible for.

How do you get involved?

To learn more, call the Seaver Autism Center at 212-241-0961 or email theseavercenter@mssm.edu and one of the clinical research coordinators will provide you with more information.

You may also stay in the know by signing up for the Seaver Autism Center newsletter and by following the Center on social media.

Computational Psychiatry Postdoctoral Fellow Earns NIH Director’s Early Independence Award

Cognitive scientist, computational neuroscientist, well-being researcher—it’s hard to choose only one label to describe Shawn Rhoads, PhD, who recently completed a postdoctoral research fellowship at the Center for Computational Psychiatry at the Mount Sinai Health System. But one title that sticks is recipient of the 2024 National Institute of Health (NIH) Director’s Early Independence Award. The prestigious award, part of the NIH’s High-Risk, High-Reward Research program, supports creative early-career scientists in launching independent research careers.

The award will support Dr. Rhoads as he launches his own lab at Mount Sinai, where he is transitioning to a faculty position as Assistant Professor of Psychiatry, Icahn School of Medicine at Mount Sinai. His research uses modern tools including neuroimaging and computational modeling to approach a modern—and growing—problem. “We’re in the midst of a loneliness epidemic,” Dr. Rhoads explains.

In 2023, the United States Surgeon General released a health advisory on social isolation, citing recent research that found half of U.S. adults report loneliness. Such social disconnection has been linked to a host of negative outcomes, including a greater risk of heart disease, dementia, depression, and early death.

Dr. Rhoads’s research aims to understand the cognitive and neural processes that drive social decision-making—work that could lead to interventions that boost social connection and improve well-being.

A New Way to Study Loneliness  

As an undergrad at the University of Southern California, Dr. Rhoads double majored in psychology and physics. “I was interested in physics as a potential research path, but it was missing that human element,” he says. Fortunately, he found the perfect marriage of his interests and talents in cognitive science and computational modeling. He went on to earn a PhD in the Laboratory on Social and Affective Neuroscience at Georgetown University.

In 2022, he joined Mount Sinai as a postdoctoral fellow in the lab of Xiaosi Gu, PhD, Director of the Center for Computational Psychiatry at the Mount Sinai Health System, and Associate Professor of Psychiatry, and Neuroscience, Icahn School of Medicine at Mount Sinai. It was a perfect fit. “Mount Sinai is one of the only places in the country with an integrated center using computational methods to better understand mental health,” he says.

Working with Dr. Gu, Dr. Rhoads set about designing a project to learn more about loneliness. One response to feeling lonely is to experience a craving or desire for social interaction. “We often think of craving as a negative thing, as in addiction,” he says. “But in this case, craving can be positive if it motivates us to go out into the world to seek connection.”

Some of Dr. Gu’s previous work explored craving in substance use disorders. Now, she and Dr. Rhoads are applying a similar framework to understand how social craving arises, and what happens when that process goes awry. Their model suggests that social craving changes in response to social cues, such as seeing a group of people having fun together. Such social cravings, they predict, are also influenced by expectations and experiences. What happens, for instance, if someone goes to a party expecting a fulfilling social interaction, but doesn’t end up connecting with anyone?

With support from the NIH award, he will use functional brain imaging to understand what happens in people’s brains when they experience social cravings and engage in social interactions. Ultimately, Dr. Rhoads hopes to determine whether those patterns of neural activity can predict negative mental health outcomes such as depression or anxiety.

Seeing Social Decision Making in Real Time

In another line of research, Dr. Rhoads is looking into the brain to see social decision-making in action. In collaboration with researchers, including Ignacio Saez, PhD, Associate Professor of Neuroscience, Neurosurgery, and Neurology, Icahn Mount Sinai, and leader of the invasive electrophysiology core at the Nash Family Center for Advanced Circuit Therapeutics at Mount Sinai, he is working with patients hospitalized while receiving 24/7 intracranial direct brain monitoring as part of their epilepsy treatment.

Dr. Rhoads designed a “gamified” cognitive task for two patients to play together. Each player can earn points working independently, but they have a better chance of high scores if they team up to work with one another. “In order to play together, you need to engage in higher-order social cognitive processes,” he says. For instance, the players have to think multiple steps into the future—not only about their own actions, but also about what they think their partner might do. “The player’s choices are contingent upon their beliefs about what the other person’s strategy is. If I go right, for example, I might assume you’ll go left,” he says.

This ability to consider another person’s mental state is known as theory of mind. By taking direct brain recordings while patients play the game, Dr. Rhoads and his colleagues can apply computational models to make predictions about the players’ beliefs and actions, and see how those predictions play out in the form of brain activity. By collecting brain recordings from two individuals as they interact, the researchers can see social learning and social decision-making in real time. “This is a dynamic system, with changing information as the two players adapt and make choices,” he says.

The ability to imagine another person’s thoughts and perspectives can be helpful, such as when two people are collaborating. But it can also go awry. A person with social anxiety, for example, might ruminate on what they think another person is thinking about them. A person with psychosis might have paranoia about other people being out to get them. “The idea is that we can adapt this model to examine when these cognitive processes can be maladaptive,” Dr. Rhoads says.

A Bright Future for Computational Psychiatry

Though Dr. Rhoads is launching his independent research career, he’s not interested in going it alone. He is eager to collaborate across disciplines, bringing together diverse tools and perspectives to answer questions with implications for individuals and for society.

Meanwhile, he hopes to make computational research accessible to more people. He’s co-director of the Summer Program in Computational Psychiatry Education (SPICE), a research program for high school and college students offered by the Center for Computational Psychiatry. He’s also helping to organize a computational psychiatry workshop for trainees of all levels.

“Computational psychiatry can seem like a daunting field to get into. But we need a diverse and well-represented future of researchers,” he says. “Making these tools more accessible will help us answer some big questions about social behavior and well-being.”

How One Postdoctoral Fellowship Award Recipient Is Helping to Expand Our Knowledge of the Fundamental Mechanisms of Neurodegenerative Diseases

Kristen Whitney, PhD, and John F. Crary, MD, PhD, in the Crary Lab

Kristen Whitney, PhD, whose research in the Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, is aimed at uncovering the earliest changes that occur in the aging brain that are causing cells to die, was named the 2024 recipient of the Robin Chemers Neustein Postdoctoral Fellowship Award.

The award, which encourages and supports female research scientists at Icahn Mount Sinai, was established in 2010 through a generous gift from Robin Chemers Neustein, JD, MBA, a former member of Mount Sinai’s Boards of Trustees. Recipients are senior postdoctoral scientists who intend to complete their training within two years, have demonstrated high-impact accomplishments in biomedical sciences, and exhibit the potential for an independent scientific career.

Dr. Whitney is a postdoctoral fellow in the John F. Crary, MD, PhD, Lab. Dr. Crary is Director of the Mount Sinai Neuropathology Brain Bank and Research CoRE, and Professor of Pathology, Molecular and Cell-Based Medicine, Artificial Intelligence and Human Health, and Neuroscience, Icahn Mount Sinai. His lab is dedicated to uncovering the fundamental mechanisms of neurodegenerative diseases with a focus on the tau protein, the principal component of neurofibrillary tangles seen in Alzheimer’s disease and other disorders, such as progressive supranuclear palsy (PSP).

Says Dr. Crary: “Dr. Whitney is at the forefront of this effort, spearheading innovative research that uses stem cell-derived brain organoids to model PSP. Her work is specifically focused on understanding the role of the integrated stress response in tauopathy, helping to illuminate how cellular stress pathways influence the progression of tau-related diseases. Her contributions are critical in advancing our understanding of PSP, positioning her as a leader in neurodegenerative disease modeling.”

Understanding these mechanisms is a promising path to identifying novel therapeutic strategies and drug targets to delay or cure these devastating diseases.

Dr. Whitney says she first became interested in neurodegenerative diseases in her freshman year of college when she started working as a histology technician in a neuropathology lab. Later, she worked directly with patients as a clinical research coordinator at an Alzheimer’s Disease Research Center. “I observed firsthand the devastating consequences of these diseases,” she says.

In her doctoral work, she investigated a novel drug therapy for traumatic brain injury in preclinical animal models. “My training background in both clinical and basic science research, and working with human samples and model systems, inspired the direction of my postdoctoral work in experimental neuropathology and human patient-derived brain cell model systems,” she says.

“I feel the most powerful way to identify therapeutic strategies for neurodegenerative diseases is to conduct patient-oriented research, focusing on the precious brain donations from our patient populations and developing new personalized, and thus clinically relevant-based model systems, such as our ‘mini-brain’ organoids.”

Dr. Whitney came to Mount Sinai for postdoctoral training specifically to work with Dr. Crary. “His background as a physician-scientist offered a unique opportunity to learn clinical and experimental neuropathology while conducting translational research,” she says.

“Mount Sinai has been an incredible environment to complete my postdoctoral training, particularly in the stem cell, organoid, and neurodegenerative research community,” Dr. Whitney adds. “I have had the opportunity to be mentored by, and collaborate with, some of the top researchers in the field. My projects would never have been possible without all the resources available at Mount Sinai, especially the Dean’s CoREs, such as the Stem Cell Engineering CoRE and the Mount Sinai Neuropathology Brain Bank and Research CoRE.”

“I am beyond thrilled and honored to be selected for this year’s Robin Chemers Neustein Postdoctoral Fellowship Award,” says Dr. Whitney. “Advocacy for women in science and the commitment to dismantling barriers resonate deeply with my values, making the mission of this award especially meaningful for me. I am so grateful to Dr. Crary for his invaluable mentorship throughout the years, and to the selection committee for their recognition and support.”

My Story: A Doctor Becomes a Cancer Patient

“I am grateful for all the compassionate care I got at Mount Sinai,” says Shari Brasner, MD, who has been an obstetrician/gynecologist at Mount Sinai for more than three decades. She was diagnosed with a rare gynecological cancer, but her cancer is in remission and her life has returned to normal. Now she helps other cancer survivors through the Woman to Woman program.

Shari Brasner, MD, has been an obstetrician/gynecologist at Mount Sinai for more than three decades. She has always put her patients first, no matter what it took. But in the fall of 2020, she became a patient.

Unexpectedly, she was diagnosed with a rare gynecologic cancer, and even as she continued as much as possible to care for her patients, she turned to her colleagues at Mount Sinai for lifesaving care. It wasn’t easy. She wore a wig to cover her balding head, long sleeves to hide injection bruising, and she coped with feeling awkward about being on the receiving end of care.

In this first-person account, she describes her experiences as both doctor and patient and how, thanks to surgery and chemotherapy, her cancer is in remission and her life has returned to normal.

She’s grateful for the compassionate care she received at The Mount Sinai Hospital and has become involved with Woman to Woman, an organization at Mount Sinai that pairs gynecologic cancer survivors with patients undergoing treatment, so she can help others who are experiencing what she went through.

It was a shock to learn I had a rare gynecologic cancer.  We were in the midst of the COVID-19 pandemic, in the fall of 2020, so life was already turned upside down. But then my life became even more upside down.

At first, I thought I had an ovarian cyst. I’d been having abdominal pain and since I’d had ovarian cysts removed in the past, I thought this might be another cyst. An ultrasound suggested that might be the case and my doctor recommended having the cyst and ovary removed. Since I didn’t need to rush, I scheduled the procedure for a convenient time in mid-October.

At the beginning of October, I went Boston to spend a weekend with my son, Zachary. While I was there, I developed acute abdominal pain, and it became very clear that we were going to have to move up my surgery date. I asked my husband Jeff to drive me back to New York.

At this point, I’d worked at The Mount Sinai Hospital for more than 25 years. While we were driving down, I called all my patients with appointments for Monday and Tuesday and asked them to reschedule for later in the week. Then I called my surgeon, and I said, “I’m in acute pain. I think we need to do the surgery today.” Fortunately, he was available.

My husband dropped me off at the entrance of the Mount Sinai Emergency Department. He couldn’t come in because of the COVID-19 precautions. An ultrasound in the ED showed that I was bleeding into my abdomen, and they quickly took me to the operating room. The planned surgery was laparoscopy, a minimally invasive procedure, to remove the ovary with the cyst. But they found so much blood in my belly that they converted to an open procedure.

When they opened me up, they saw that there was a mass at the edge of my uterus, next to the ovary. The surgeon removed the ovary and mass and, because I was already postmenopausal, he also removed the uterus. There was no sign of cancer, but they sent the tissue to the lab for routine testing as always. I went home two days later.

A few days after I got home, my surgeon called, saying the pathology report showed I had a rare gynecologic cancer called choriocarcinoma. This disease is most associated with a recent pregnancy. I had not been pregnant in years; my twins were 24 years old. Choriocarcinoma’s tumor marker is the pregnancy hormone (human chorionic gonadotropin or hCG) and my tumor marker was off the charts. It was a bizarre diagnosis.

“I think it can be helpful and hopeful to women in the midst of treatment to interact with someone who’s on the other side of it, who can confidently say, “My life is not any different today than it was before all this happened.” It’s a nice way to pay it forward and do something with all my gratitude.”

The next step was look for any spreading, or metastasis. I called a radiology colleague; everybody bent over backwards for me, doing the testing the day I called. They did a magnetic resonance imaging (MRI) of my head and computed tomography (CT) scan of my abdomen and pelvis. I had several lesions in my lungs, including some blood clots. I started taking blood thinners to treat the clots.

One week later, at the end of October, I started chemotherapy. The first few chemo sessions were inpatient. But after a few months, when my hCG level wasn’t falling as quickly as hoped, my doctor changed some of the drugs. I then had outpatient chemo for several months, until early April.

When I look back, the pandemic was a very convenient time to have cancer. I am a private person and tried to be discreet with the patients and staff. Because of COVID-19, there were almost no on-campus meetings, and all our grand rounds were virtual. I was able to complete my treatment without the scrutiny of my peers. I felt fortunate that I was back at work, in a job that required me to be out of the house and engaging with people.

I also didn’t want my patients to think I was in any way frail or compromised, that I couldn’t take care of them. So I always wore a wig or two scrub hats to conceal my bald head. I was also self-conscious about my arms. The daily blood thinner shots made me bruise easily and every blood draw was obvious in my arms. I took to wearing long sleeve shirts under the scrubs to hide my arms. Masks helped too. When patients would say, “You look different,” I would tell them, “You do too, because of the mask.”

My doctors checked my hCG level regularly, and we watched it fall. When it got to zero, I did one or two more cycles of chemo to make sure it stayed there. My daughter Samantha called me her Zero Hero, and threw me a party to celebrate in June 2021.

I think for most doctors, being a patient in the hospital where you work is awkward. The nurses had to be respectful of my privacy while also taking care of me. They were wonderful. But I bet it was more awkward for them than for me.

After the initial post op visit, follow-up care was just blood work to monitor the hCG level. Sometimes, I had the blood drawn in my office and let my doctors know that it was still at zero. When my health care providers left Mount Sinai, I didn’t transfer my care to anyone else. I just do a blood test every few months to check that the marker remains at zero.

I am grateful for all the compassionate care I got at Mount Sinai. Now I am involved with Woman to Woman, an organization that pairs gynecologic cancer survivors with patients who are in treatment for gynecologic cancer. I think it can be helpful and hopeful to women in the midst of treatment to interact with someone who’s on the other side of it, who can confidently say, “My life is not any different today than it was before all this happened.” It’s a nice way to pay it forward and do something with all my gratitude.

Congratulations to the 2024 Mount Sinai Emergency Nurse Awardees

The Mount Sinai Department of Emergency Medicine recently hosted the annual Emergency Nurses Award Ceremony, celebrating 43 team members across six categories.

In harmony with the Emergency Nurses Association’s Emergency Nurses Week theme, awardees were voted for by their team and represent the “Shimmer and Shine,” the brightest stars among their peers and leaders in emergency care.  The event was held Wednesday, October 9.

Emergency Nurses Week is celebrated annually during the second week of October.

Rookie of the Year Award: The recipient for this category has eighteen months of less experience working in the Emergency Department and consistently displays confidence, initiative, and high potential in providing clinical care and contributing to the team’s success. From left: Brittany Horsford, RN; Eric Gunther, RN; Francesca Ferri, RN; Nataniel Fazilov, RN; Yvette Williamson, RN; Anthony Duncan, MBA, BSN, RN; Samantha Rodriguez, RN; Edward Joseph, RN.

 

Preceptor of the Year Award: The recipient for this category serves as a resource and mentor for team members and new hires by sharing knowledge and skills and exemplifying best practices in providing care to our community of patients. From left: Romina Condo, RN; Tracey Plaskett, RN; Tamar Cohen, RN; Geraldine Millington, RN; Daya Manmadhan, MSN, MHA, RN; Lauren McArdle, RN; James Hoeft, RN;;Sasha Stoney, RN.

 

Support Staff Member of the Year Award: The recipient for this category demonstrates support of and collaboration with Nursing staff through effective team-work, clear communication, focus on patient safety and enhancing the overall experience for patients and families.From left: Ilana Ortiz, PCA; Tyson Theogene, ERT; Gabriel Abreu, ERT; Jeofrey Gacad, UC; Allison Prince, PCA; Sabrina Jackson, RN accepting on behalf of Iesha Frazier, EDT; Debbie Hendrickson, PCA.

 

Resilience and Wellness Award: The recipient for this category serves as a role model for resilience and wellness by exemplifying healthy habits and lifestyle, also helps to promote Mount Sinai resiliency resources and engages others in healthy habits.From left: Judy Louie, RN; Shelly Ann Culzac, RN; Cathy Diaz, RN; Shirley Liu, RN; Talitha Nix, RN; Katrina Serrano, RN; Staci Madison, RN; Shari Weisburd, RN, BSN.

 

Emergency Department Clinical Nurse of the Year: The recipient for this category is a staff nurse who adheres to nursing standards of practice, consistently demonstrates exceptional patient care and professionalism. This nurse helps facilitate positive team engagement and high-quality patient outcomes.From left: Ledjan Halollari, MSN, RN; Tanya Murray, RN; Ophelia Beckford, RN; John Carlo Sahagun, RN; Lillibeth Pansoy, RN; Francena Bryan, RN; Yasmina Garcia, RN; Mary Anne Blanco, RN; Marlo Meehan, RN.

 

Emergency Department Nurse Leader of the Year: The recipient for this category demonstrates excellent leadership skills by serving as a resource through effective communication, working to inspire passion, and promoting professional development. This leader motivates, supports, and creates a high-performance culture for the team. From left: Kayla Buonadonna, Assistant Nurse Manager; Stephanie Rivera, Assistant Nurse Manager; Francelia Thomas, Nurse Manager; Casey Scott, Charge Nurse; Stefania Chiulli, Nurse Manager; Lauren Cain, Assistant Nurse Manager; Jill Frick, DNP, RN, CEN.

 

Mount Sinai Team Presents Research at World Professional Association for Transgender Health 28th Scientific Symposium

The Mount Sinai team at the World Professional Association for Transgender Health 28th Scientific Symposium in Lisbon, Portugal.

At the recent World Professional Association for Transgender Health (WPATH) 28th Scientific Symposium, “A Gender Diverse World in Global Unity,” Joshua Safer, MD, FACP, FACE, Executive Director of the Mount Sinai Center for Transgender Medicine and Surgery, and others from Mount Sinai presented leading-edge research on hormone therapy for transgender and gender-diverse patients.

This presentation was one of 17 delivered by the Mount Sinai team, showcasing their commitment to advancing knowledge and promoting access, equity, and inclusion in health care.

The symposium, held from September 25-30 in Lisbon, Portugal, brought together medical experts, advocates, students, and colleagues from around the world to share insights and collaborate on advancing transgender and gender-diverse health care.

Mount Sinai’s Center for Transgender Medicine and Surgery, alongside the Office for Diversity and Inclusion, played a key role in the symposium and hosted a reception that allowed participants to network and discuss important research, highlights, and best practices in the field.

Dr. Safer was a panelist in a discussion of adjunct agents, or additional therapies, used with estrogens for feminizing hormone therapy in transgender women. In addition, Daniel J. Slack, MD, Assistant Professor of Medicine (Endocrinology, Diabetes and Bone Disease), presented important data suggesting that blood clots in transgender women might be connected to other medical conditions and health care access issues rather than the estrogen therapy that is often blamed.

Presentations by the Mount Sinai team also included substantial data regarding the benefits of specific gender-affirming surgical techniques and opportunities to address health care gaps for transgender people.

Together, we are pushing the boundaries of research and championing the health and well-being of all,” Dr. Safer says. “We look forward to continuing this vital work and building a future where everyone can thrive.”

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