Improving Diversity in Autism Genomic Research

The Seaver Autism Center for Research and Treatment partnered with Centro Ann Sullivan Del Perú to serve children with autism spectrum disorder and their families. Above, Pilar Trelles, MD, Assistant Professor of Psychiatry at the Icahn School of Medicine at Mount Sinai, conducting an evaluation with a family in Lima, Peru.

Genomic research is now an integral part of the study and treatment of autism spectrum disorder (ASD) and related neurodevelopmental disabilities, so it is crucial to include more ethnically and racially diverse populations, said Pilar Trelles, MD, a psychiatrist and researcher at the Seaver Autism Center for Research and Treatment, who was the featured speaker for a virtual talk. The session, “Forming Community Ties to Improve Diversity in Autism Genomic Research,” is available here.

The talk was part of the Raising Disability Awareness Virtual Talk Series, which featured speakers from around the Mount Sinai Health System and the community to raise awareness and promote an inclusive and equitable work place and health care environment for people with disabilities.

“Data contained in the National Human Genome Research Institute and European Bioinformatics Institute Genome-Wide Association Studies Catalog indicate that most of the individual genetic samples—78 percent—come from individuals of European descent,” said Dr. Trelles, Assistant Professor of Psychiatry at the Icahn School of Medicine at Mount Sinai.  “And this is translating into clinical practice, because we are learning less about individuals of diverse ancestry.”

Pilar Trelles, MD, is a psychiatrist and researcher with the Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai.

Dr. Trelles and other staff at the Seaver Autism Center are dedicated to caring for people of all ages with ASD, leading clinical trials, and furthering research into drug development, molecular targeting, neurology, and genomics. She said that disparities and barriers exist overall for people with ASD who belong to minority groups. Some of these barriers include lack of trust in research—often based on historic inequities in science and health care—limited representation of minorities in science, a lack of cultural competency among physicians and scientists, and a lack of infrastructure.

To combat disparity and increase the accessibility to care, Dr. Trelles collaborated with families and children with ASD in Peru, creating an international partnership between the nonprofit Centro Ann Sullivan Del Perú and the Seaver Autism Center. The partnership is intended to “promote family and caregiver empowerment, educational programs, and collection of bio-specimens for genetic analysis and clinical information,” she said. The goal for the future of health care for people with ASD and their families is to develop a strong partnership where there is a clear and direct benefit to the community.

“It cannot be a one-time thing, it has to be a sustainable model that will last over time,” Dr. Trelles said. As a result of increasing accessibility where possible, her team found that compared with 2016, there has been a significant increase of Asian, Black, mixed ancestry, and Hispanic people in research participation.

Dr. Trelles ended her talk on a hopeful note. “The idea is to work with communities that could benefit from the expertise that we have, where we can actually bring a clear benefit, and provide better care and education for families,” she said. “So that we can build trust and transparency moving forward.” For more information, visit the Seaver Autism Center site.

Living With Vision Challenges During the Pandemic

Large-type keyboards help improve accessibility.

Lighthouse Guild, an organization dedicated to providing services that inspire and support people who are visually impaired to attain their goals, was the featured organization during a virtual talk. The organization provides coordinated care for eye health, vision, and rehabilitation, as well as behavioral health services. The talk entitled, “Living With Vision Challenges During COVID-19,” is available here.

Janet Weinstein, Director of Outreach for Lighthouse Guild.

“During the COVID-19 pandemic, people with low vision have had increased difficulties with the restrictions and safety precautions we have all been taking, especially as people are getting out more,” said Janet Weinstein, Director of Outreach for Lighthouse Guild. “We specialize in vision rehabilitation—that is, equipping people to resume their activities of daily living with the vision that they have, or for those who are blind, developing alternative techniques.”

In the educational session, Ms. Weinstein described the various types of vision loss, including macular degeneration, diabetic retinopathy, glaucoma, and cataracts. The talk was part of the Raising Disability Awareness Virtual Talk Series. The series, launched by ODI in 2020 for Disability Awareness Month, featured speakers from around the Mount Sinai Health System and the community to raise awareness and promote an inclusive and equitable workplace and health care environment for people with disabilities.

Lisa Beth Miller, LCSW-R, Outreach and Referral Coordinator for Lighthouse Guild.

Lisa Beth Miller, LCSW-R, Outreach and Referral Coordinator for Lighthouse Guild, discussed how the COVID-19 pandemic affected changes in lifestyle for people with vision impairments. While social distancing and wearing masks became the norm, Ms. Weinstein stressed the importance of navigating cautiously when away from home, using gloves or tissues when touching handrails, and embracing technology, such as apps with audio description and magnification features to help maintain social distance.

During the pandemic, telephones and personal computers became even more important for people with vision loss, allowing them to access telehealth and stay connected with friends, family, classes, and work, Ms. Miller said.

Lighthouse Guild is dedicated to providing resources to those who may need eye exams, education or rehabilitation services, including technology assessments and training, to address vision challenges. Ms. Miller said that “it makes a huge difference in someone’s life to know they’re not alone,” and encouraged participants to consider themselves ambassadors for those who may have vision problems, to support them in their needs. More information on the organization can be found at the Lighthouse Guild site.

 

Noted Historian Lonnie G. Bunch, III, PhD, Discusses COVID-19, the Death of George Floyd, and Combating Racism in Health Care

During the week leading up to the Icahn School of Medicine at Mount Sinai’s 52nd Annual Commencement on Friday, May 14, medical student Rachel Wilkinson held a virtual “fireside chat” with historian and educator Lonnie G. Bunch, III, PhD, Secretary of the Smithsonian Institution. At Icahn Mount Sinai’s Commencement, Ms. Wilkinson received her medical degree, and Dr. Bunch—Founding Director of the Smithsonian’s National Museum of African American History and Culture, which opened in 2016—was awarded an honorary Doctorate of Humane Letters.

Their 50-minute discussion centered on race and history and how the COVID-19 pandemic and the death of George Floyd will be remembered by future generations. Without a doubt, Dr. Bunch said, the past 18 months mark one of the most important periods in American history.

Dr. Wilkinson: How will the story of 2020-2021 be told in years to come?

Dr. Bunch: George Floyd’s murder, the insurrection at the Capitol on January 6, the devastation of COVID-19 on Americans generally and on people of color specifically—that is something historians will be writing about for generations to come. There are many moments in history that are an inflection point, where it illuminates all the dark corners of our experience, and that’s what these last two years have done: they’ve forced us to confront so many things etched by racism.

The challenge for historians is what will happen. Is this going to be a sprint that ends or a long wave that allows us to be a more transformative and fairer nation? Are we a country that lives up to our ideals or the country that realizes fairness is limited and only certain people have access to the American dream?

Dr. Wilkinson: Is there something missing that people are getting wrong about the past year and a half?

Dr. Bunch: You want people to realize this is not someone else’s story, but their story too, regardless of race, regardless of how long their family has been in this country. If we can get people to realize we’re in this together then there’s hope for a future.

Dr. Wilkinson: Thousands of us are graduating this year as doctors and biomedical scientists, and we’re trying to understand what our role should be in combating racism. What do you see as the role of health care providers?  

Dr. Bunch: The fundamental challenge is that the public health profession has used people of color as subjects rather than patients, and there is concern about fairness within the health care system. Your profession needs to embrace its history. Your profession needs to understand that it has contributed to some of the best and some of the worst outcomes in health care. Understand it, own it, and begin to look internally at what that means—a broader, more inclusive group of people going through medical school. Your job is to master your profession and to recognize that it’s not enough to be a good doctor; you’ve got to be a good person and fight the good fight.

Dr. Wilkinson: Where does medical education fit into confronting racism or injustice, overall?

Dr. Bunch: I hear many doctors say it’s a personal choice how you live your life, eat, and exercise. But it’s also a fact that if you live in Princeton, New Jersey, versus living in Trenton, New Jersey, you have a much longer life expectancy. We have to confront these issues and make sure we create a culture where health care is accessible and given fairly to all. It means you’re going to have to confront structural racism and assumptions, and when people of color come into an emergency room you’re going to have to think about them a little differently than what your initial reaction might be, that you’re being fair in giving them the treatments they need.

Dr. Wilkinson: How can health systems push the envelope on racial justice?

Dr. Bunch: I don’t want to hear doctors saying, “I can’t get out of my lane.” Your lane is really the whole system of health care. The health care community has a lot of power, a lot of resources. John Lewis (the late politician and civil rights leader), used to say to me, “Despair slows you down.” For the medical profession it’s time to own the challenge.

Dr. Wilkinson: What are you most proud of in terms of our nation’s progress toward racial justice? 

Dr. Bunch: As a historian, what’s clear to me is that America has moved in dramatic ways. What I take from history is the sense that change is possible but change is not permanent. We’ve seen moments of great leaps forward and moments of moving back. What concerns me the most is the belief that success for an individual means success for all, and that’s not true. There are people of all genders and races who you can point at and say, “Look, we have a woman CEO of a Fortune 500 company, or we have an African American.” Individual success is key, but until that trickles down to the entire community it really is just an anomaly, not the way it should be. You’re only successful if the group furthest removed from success is beginning to reap the benefit of that success.

Dr. Wilkinson: Where do we find sources of hope?

Dr. Bunch: I find hope in history. History is a reservoir I dip into and I see (the abolitionist and statesman) Frederick Douglass and Madam C.J. Walker (the first Black female millionaire in America). People who didn’t give up, people who should have given up. I also get hope from people like you and my daughter (an emergency medicine physician), people who are doing things I could never have imagined, people who say, “I will be the best in my profession and the best person of color I can be.” When I talk to people around the world—from Italy and Israel and London—and I hear them saying, “Black lives matter.” I take hope from the fact that we’re now in a world where it’s harder to keep secrets. By illuminating examples of horrible moments you can change and address those.

Dr. Wilkinson: What motivated you to take on the massive challenge of building the National Museum of African American History and Culture?

Dr. Bunch: This idea of building a museum was floating around for 100 years and began with Black Civil War veterans saying, “Why not tell our story too?” I realized if we could build a national Museum of African American History and Culture on the Mall (in Washington, D.C.) as part of the Smithsonian, that would nurture the souls of my ancestors so that African Americans would not be seen as an ancillary story but central to who we are as Americans. It’s not just a story of woe is me or pain. It’s a story of resiliency.

My favorite part of the museum is helping people understand how important slavery is to all of us—that these are people whose lives dramatically altered America. Resiliency is really at the heart of the Black experience.

Language Services Supports Mount Sinai’s Most Vulnerable Patients

Interpretation and translation services are available at the bedside and to patients’ family members.

The COVID-19 pandemic presented many challenges for the Language Services team at the Mount Sinai Health System. The team provides language translation and interpretation services to support patients with disabilities and those with limited English proficiency. Their offerings include interpretation services on the front lines and keeping family members informed. In response to COVID-19 protocols in place, the Language team developed and deployed tools and initiatives, such as video remote interpreting for meetings, clear masks, sound amplifiers, and “proactive rounding” to ask patients and families about their needs.

The session, “Better Together—Leveraging Our Values to Serve Our Most Vulnerable Patients During the Pandemic,” was hosted by the Mount Sinai Office for Diversity and Inclusion and delivered by Silvina de la Iglesia, Associate Director of Language Services at Mount Sinai. Ms. de la Iglesia highlighted Mount Sinai’s core values, which are safety, agility, creativity, empathy, teamwork, and equity, and said the pandemic had made interpreters more essential than ever. The talk can be viewed here. Click the “cc” button for closed captions.

Silvina de la Iglesia, Associate Director of Language Services at Mount Sinai.

The talk was part of a series featuring speakers from around the Mount Sinai Health System, as well as the community, to raise awareness and promote an inclusive and equitable work place and health care environment for people with disabilities. “In the pandemic, we have had the opportunity to translate our core values into action,” said Ms. de la Iglesia.

Delivering high quality interpretation services and accommodations while following COVID-19 precautions was challenging, she said. Many of the services the program provides were adapted to be offered on a remote basis, causing staff to provide interpretation and auxiliary services via Zoom, FaceTime, and other telehealth platforms. Communicating effectively is key when it comes to the patient safety and meeting the needs of patients with disabilities and other vulnerable populations. With public health measures in place to prevent the spread of COVID-19 among internal staff and external vendors, staff had to be creative in how they delivered services. This included deploying new assistive devices, as well as using clear masks for patients who are hard of hearing and require lip reading as a means of communication.

According to Ms. de la Iglesia, to elevate the patient experience means not only adapting to the pandemic with technologically advanced devices, but also remaining true to the empathetic values held by the Health System and connecting patients with their loved ones. To learn more about the services offered, please visit the Language Services webpage.

“There’s always more work to do when it comes to disabilities,” Ms. de la Iglesia said, such as, adding more services for people with limited English proficiency or health care literacy. “The spectrum is so broad that we could never cover it all, but at least with different efforts to raise awareness, engaging the community in daily operations, and listening to feedback, we do better for our patient.”

Compassion and Connection: Caring for Patients in a Time of Need


Patient Experience Week, observed Monday, April 26, through Friday, April 30, honors the people who improve the patient experience every day and celebrates their accomplishments.

From nurses and physicians to support staff and executive professionals, all Mount Sinai employees are part of the patient experience.

This year Mount Sinai is recognizing how employees connected with patients through compassion during COVID-19. In this video, you can see how in many different ways, teams across many Mount Sinai locations—both clinical and non-clinical, remote and in-person—rose to the occasion, moved past barriers, showed compassion, and innovated to effectively care for patients in a time of need.

Watch Mount Sinai Brooklyn

Watch Mount Sinai West

Watch Mount Sinai Beth Israel

Watch NYEE

Watch Mount Sinai Queens

Mount Sinai Doctors

Mount Sinai South Nassau

Mount Sinai Morningside

The Mount Sinai Hospital

Watch the slideshow of employees throughout the Mount Sinai Health System

 

The Mount Sinai SAVI Program Observes Sexual Assault Awareness Month

As our communities navigate the ongoing coronavirus pandemic, we must not forget the importance of Sexual Assault Awareness Month this April. Sexual assault occurs when unwanted, unwelcome sexual behaviors are forced upon someone without their consent. According to the most recent Department of Justice National Crime Victimization Survey, every 98 seconds, a person in the U.S. is sexually assaulted.

The Mount Sinai Sexual Assault and Violence Intervention Program (SAVI) was founded in 1984 to respond to this public health crisis in Manhattan and Queens by advocating for the rights of sexual violence survivors to be believed, supported, and centralized through free trauma-informed services and advocacy. Since SAVI’s doors opened, survivors of sexual and intimate partner violence and those closest to them have accessed SAVI’s free counseling by calling SAVI’s main intake line at 212-423-2140.

Each fall, SAVI has provided a 40-hour classroom-based training to prepare volunteer advocates to provide onsite emotional support and advocacy for survivors in the Emergency Department. The SAVI Advocate training is one of the many free prevention and trauma-informed response educational opportunities that SAVI provides. SAVI also has specialized capacities to address specific community needs, such as the Takanot Program, which serves Orthodox Jewish survivors of sexual and intimate partner violence, and anti-Commercial Sexual Exploitation interventions and services.

To continue raising awareness of the prevalence and prevention of sexual violence, SAVI observes Sexual Assault Awareness Month (SAAM) this April. SAAM is centrally coordinated by the National Sexual Violence Resource Center, who produce free awareness print and media resources on their website.

Denim Day: Last Wednesday of April (4/28)

Per organizers Peace Over Violence, who started this campaign 21 years ago:

“The campaign began after a ruling by the Italian Supreme Court where a rape conviction was overturned because the justices felt that since the victim was wearing tight jeans she must have helped the person who raped her remove her jeans, thereby implying consent. The following day, the women in the Italian Parliament came to work wearing jeans in solidarity with the victim.”

More information can be found at denimdayinfo.org.

The Mount Sinai community was invited to participate in Denim Day by –

  • WEARING denim (with supervisor permission)
  • Taking a SELFIE in denim
  • POSTING this image on social media (Instagram, Facebook or Twitter) with the HASHTAG #denimdaysavi
  • TAGGING @mountsinaisavi

JOIN one of our Denim Day webinars to learn more about ways to interrupt sexual violence, and victim blaming culture! Register here.

SAVI hopes that someday, SAAM and even their program will no longer be necessary but until then, you can be part of the movement by joining their mailing list (email SAVIPresents@mssm.edu) and following @mountsinaisavi on social media to learn about campaigns, actions, and other opportunities to take a stand against sexual violence.

Amanda Burden (she/her/hers) brings more than 15 years’ experience as an educator, program manager, and public health professional to SAVI as the Training and Education Outreach Supervisor. Since joining the program in 2016, Burden has facilitated the delivery of trauma-informed education, public health campaigns, and subject matter expertise to thousands of volunteers, trainees, staff, clinicians, and faculty across the Mount Sinai Health System. To inquire about the program’s free sexual or intimate partner violence prevention or response resources and education available for your communities, please visit the SAVI website or call the main line at 212-423-2140.

If you or someone you know is experiencing, or healing from, sexual or intimate partner violence, please let them know that they are not alone, and to call 212-423-2140 when they are ready to speak to a free counselor at SAVI.