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Why a PhD in Biomedical Sciences? Student Ashley Richardson, MSBS, Shares How Mount Sinai Inspired Her to Study Immunology and Microbiology

Updated on Oct 13, 2023 | Research, School

Among the first-year matriculating PhD students who participated in the 2023 Lab Coat Ceremony at the Graduate School of Biomedical Sciences at the Icahn School of Medicine at Mount Sinai was Ashley Richardson, MSBS. In the following Q & A, Ms. Richardson, who is a graduate of the Master of Science in Biomedical Science program, discusses her experiences and aspirations, and why she chose to continue her education at Mount Sinai.

What brought you to Icahn Mount Sinai as a master’s student?

I thought Mount Sinai’s program was really unique because you had the opportunity to do a lot of research and also get clinical experience. At that time, I was deciding between two paths. I knew that I really loved research but I also considered going to medical school. I love that this program allowed me to explore both options. When I was here, I found it to be an amazing program. I had great mentors and the community was great, which inspired me to stay longer.

What were some of your achievements as a master’s student?

I was able to participate in EHOP (East Harlem Outreach Partnership), a student-run clinic at Mount Sinai and, as the Women’s Health Referrals Manager, I got very involved with the organization and the local community. I also worked in a research lab under Dr. Dusan Bogunovic and wrote my thesis paper on genetic susceptibility to Zika Virus infection.

What attracted you to this area of study?

I was attracted to immunology and microbiology because I had a really fabulous professor at the University of Villanova when I was completing my undergraduate degree. He taught us how to analyze research papers, how to truly understand the research that was happening, and how to critique them. At Mount Sinai, I’ve had great mentors who have further increased my interest in these areas.

Why a PhD in Biomedical Sciences?

I’m interested in knowing more about why some individuals respond differently to viral infections. Some people get seriously ill, while others only experience a minor infection. I’m curious about understanding the genetics that can lead to these differences. I hope to further my confidence and ability to lead research projects. I want to keep going forth to understand genetics. My previous skills are mostly in immunology, so I’m aiming to combine this with new knowledge about genetics.

Lab Coat Ceremony for PhD and MD/PhD Students Marks the Start of New Journeys in Research and Training

Updated on Oct 13, 2023 | Featured, Research, School

Amid cheers and applause, first-year PhD students and third-year MD/PhD students received crisp white lab coats to mark the start of their journeys into academic research and training during a recent ceremony held by the Graduate School of Biomedical Sciences at the Icahn School of Medicine at Mount Sinai. The lab coats symbolize the professionalism and authority that trainees will develop and nurture during their time at Mount Sinai.

“Our PhD programs in biomedical sciences, neuroscience, and clinical research provide rigorous collaborative training that prepares our students to spearhead the next generation of scientific and medical breakthroughs,” said Marta Filizola, PhD, Dean of the Graduate School of Biomedical Sciences and the Sharon & Frederick A. Klingenstein-Nathan G. Kase, MD Professor as she welcomed the students, faculty, and guests.

Marta Filizola, PhD

Today’s biomedical and clinical research efforts, she said, must help “solve complex problems and find solutions grounded in data and their rigorous statistical analysis. We are branching out into new realms of research that leverage artificial intelligence and other emerging technologies in medicine to improve patient health and quality of life. Our students are a crucial part of this growth.” Dr. Filizola is also Professor of Pharmacological Sciences, Neuroscience, and Artificial Intelligence and Human Health.

Eric J. Nestler, MD, PhD, Dean for Academic Affairs at Icahn Mount Sinai, and Chief Scientific Officer for the Mount Sinai Health System told the students: “We want you to aim high…Don’t settle on a project because it’s easy and doable. Instead, take a chance by studying something that in its own small way will change the world.”

Why a PhD in Biomedical Sciences? Click here to read how student Mount Sinai lnspired student Ashley Richardson to study immunology and microbiology.

Dr. Nestler said, “I’ve given a lot of thought over the years to what constitutes the essential ingredients for such an undertaking. First, is novelty. Dr. Albert Einstein once said, ‘If you do what you always did, you will get what you always got.’” He also mentioned relevance of the work, technical innovation, creativity, collaboration, perseverance—and “having an available and generous principal investigator and other members of your lab who can also help with brainstorming, troubleshooting, and collaborative experiments [and who] should also support your goals of thinking big, having big expectations for yourself, and publishing your work as high-impact papers in respected, peer-reviewed journals.” Dr. Nestler is also Director of The Friedman Brain Institute and Nash Family Professor of Neuroscience at Icahn Mount Sinai.

Eric J. Nestler, MD, PhD

Genomic scientist Brynn Levy, M.Sc.(Med), PhD, FACMG, who received his PhD degree in clinical cytogenetics from Mount Sinai in 1999 and is world-renowned in the clinical utility of genomic technologies in reproductive medicine, gave an insightful speech about his own educational journey and experiences.

“The first piece of advice I have for you is: be an active participant in your profession, and get involved. As you begin to entrench yourself in your profession, try to be more than just a sideline observer,” he told the students. Also, “It’s important to enjoy what you do” and to “treat every day as a learning experience. Identify great mentors and embrace them, as great mentors teach you more than just medicine and science.”

Dr. Levy is Professor of Pathology and Cell Biology at the Columbia University Irving Medical Center (CUIMC), Medical Director of the Clinical Cytogenetics Laboratory at New York Presbyterian Hospital, and Co-Director of the Laboratory of Personalized Genomic Medicine at CUIMC.

Dr. Levy said that he was fortunate to have “two amazing mentors”—the late Kurt Hirshhorn, MD, at Mount Sinai, and the late Dorothy Warburton, PhD, at Columbia, each a trailblazing researcher in the cytogenetics field.

Dr. Hirshhorn was a legendary pediatrician, medical geneticist, and cytogeneticist known for groundbreaking research during his 50-year career at Mount Sinai, which included establishing one of the first laboratories in the nation for clinical chromosome studies. Among his many honors, he was a member of the National Academy of Medicine. “Kurt led by example,” said Dr. Levy. “Over and above his phenomenal accomplishments and knowledge, he taught me how to have confidence in myself. He never micromanaged me, and instead, he gave me autonomy…He taught me the meaning of paying it forward, possessing the insight of the importance of investing in the next generation.”

Brynn Levy, M.Sc.(Med), PhD, FACMG

Dr. Levy concluded: “As you all embark on the exciting new pathway that you’ve chosen for yourselves, I hope you invest in yourselves. Get involved in your field and engage with your community and colleagues. Be curious and treat every day as a lesson in medicine, science, as well as life. Know your limitations, and see those around you as a resource to continuously improve who you are and what you do. In doing so, I trust that every day will be fulfilling, and you will no doubt make an indelible impact on many patients’ lives and on society as a whole.”

With great fanfare, each student was presented with a lab coat, an effort sponsored annually by the Mount Sinai Alumni Association. Standing together and wearing their lab coats, they recited the PhD Oath in unison. “With my Doctor of Philosophy, I willingly pledge to uphold the highest levels of integrity, professionalism, scholarship, and honor,” they said, as they read a set of guiding principles that would start them on their journeys to rewarding and enjoyable careers.

A slideshow of snapshots from the Lab Coat Ceremony

Mount Sinai Researcher Launches Three Studies of Alzheimer’s Disease in Asian Americans

Updated on Oct 5, 2023 | Diversity and Inclusion, Featured, Psychiatry, Research

Clara Li, PhD, a clinical neuropsychologist and Associate Professor, Psychiatry, at the Icahn School of Medicine at Mount Sinai, has received new grants that will total more than $12 million from the National Institute on Aging (NIA), part of the National Institutes of Health (NIH). The funding will support three new projects that seek to improve the diagnosis and treatment of Alzheimer’s disease and Alzheimer’s disease-related dementias (AD/ADRD) in Asian Americans.

Asian Americans are historically under-represented in clinical research on AD/ADRD. As a result, many older adults with Asian ancestry do not receive adequate diagnosis and treatment for mild cognitive impairment (MCI) or AD/ADRD.

Clara Li, PhD

“Chinese is the third-most-spoken language in the United States after English and Spanish, yet we don’t have many of these tools available,” Dr. Li explains. She’s hoping to change that, with three new studies launched in 2023.

Adapting Assessments for Alzheimer’s: Chinese Translation and Cultural Adaptation

In one of the studies, a five-year effort, Dr. Li will develop assessment tools that are linguistically and culturally adapted for older adults who speak Cantonese or Mandarin, with the hope to extend it to other Asian languages in the future.

Researchers rely on assessment tools from the National Alzheimer’s Coordinating Center Uniform Data Set (NACC UDS) to identify research participants with cognitive impairment or AD/ADRD. But those tests were developed for English speakers and Western cultures.

“I’ve seen many Asian American patients who try to take the English tests because a Chinese version isn’t available, and the language is a barrier,” Dr. Li says. “Sometimes a test would suggest cognitive impairment, but when I would translate the test myself into Chinese, the patient would score in the normal range.”

Language isn’t the only barrier. Cultural differences also make the test confusing for many Asian American patients. When asked to identify an image of a witch on the standard test, for instance, some of Dr. Li’s patients said “janitor” or “cleaner”—a common error because witches aren’t typically depicted with brooms in Chinese culture.

The lack of adequate tests hampers diagnosis and treatment, and also affects research seeking to better understand AD/ADRD in Asian Americans.

“Because we can’t enroll patients unless they can take the tests in English, many are excluded from studies. As a result, Asian Americans make up less than 2 percent of the participants in U.S. clinical trials,” Dr. Li explains. “If we want to increase diversity in research, we need to adapt these materials for Chinese speakers and eventually other Asian languages.”

A Research Infrastructure for Alzheimer’s Disease in Asian Americans

In the second study, Dr. Li will develop a research infrastructure and tools for studying AD/ADRD in older Asian Americans. She and her colleagues will develop questionnaires to fully characterize Asian American participants, including social determinants of health and any environmental or lifestyle factors that could increase or decrease their risk of developing AD/ADRD.

This five-year study will also investigate blood samples from Asian American participants to determine whether there may be novel biomarkers in this population, and whether known biomarkers are relevant to people from Asian backgrounds.

“Amyloid and tau are well known as biomarkers associated with Alzheimer’s disease, but those biomarkers were developed primarily from Caucasian samples. Therefore, the generalization of these findings in Asian Americans is not always clear, including criteria for amyloid and tau burden to establish AD/ADRD risk,” she says. “There may be different thresholds for those biomarkers in different populations.”

Support for Mild Cognitive Impairment

Dr. Li’s third newly funded project is a two-year pilot clinical trial. She and her colleagues will adapt the Memory Support System (MSS) for use in Chinese Americans who speak Cantonese or Mandarin. The MSS is a memory calendar training program to help older adults with MCI organize and remember their daily activities. The system is a component of the Healthy Action to Benefit Independence & Thinking^Ò (HABIT) Program, an evidence-based intervention that provides lifestyle and behavioral treatments for older adults with MCI.

“I see patients with MCI who want to do something to prevent the development of dementia, but if they can’t speak fluent English, they aren’t able to participate in clinical trials,” Dr. Li says. “We hope that by adapting this program, we can offer Chinese American older adults with MCI an opportunity to participate in a trial that seeks to improve memory and function, as well as their mood and quality of life.”

Alzheimer’s Disease Research at Mount Sinai

In addition to the three new studies Dr. Li has launched this year, she is leading two clinical trials at the Alzheimer’s Disease Research Center at Icahn Mount Sinai and is the site Principal Investigator for the Asian Cohort for Alzheimer’s Disease (ACAD) study, a multisite project to analyze genetic data to identify risk variants for Alzheimer’s disease in Asian Americans and Asian Canadians.

Through these projects, she hopes to improve research participation, diagnosis, and treatment related to patients of Asian ancestry—an effort that is long overdue, she says.

“There’s a lot of work that needs to be done. In addition to research inequities, there aren’t enough bilingual physicians outside the community, which often makes it difficult for Asian American older adults to receive integrated specialty care, leading to delayed diagnosis and treatment for AD/ADRD,” she adds.

Mount Sinai serves a diverse patient population and is committed to improving care by addressing bias and racism. Icahn Mount Sinai and Mount Sinai Health System created the Center for Asian Equity and Professional Development to address the equity and professional development challenges faced by Asian Americans and Pacific Islanders.

Learn more about the Alzheimer’s Disease Research Center

Mount Sinai Receives Five-Year Grant to Support First-of-Its-Kind Translational Science Program for Nurses

Oct 4, 2023 | Featured, Nursing, Research

Mount Sinai’s Center for Nursing Research and Innovation (CNRI) is developing a first-of-its-kind program that supports Doctor of Nursing Practice (DNP) students from underrepresented minority communities and disadvantaged backgrounds to become experts in translating research into clinical practice. The program’s development is being funded by a five-year grant from the National Heart, Lung and Blood Institute (NHLBI) of the National Institutes of Health.

“We are so excited to have achieved this significant milestone,” says Kimberly Souffront, PhD, RN, FNP-BC, Associate Director of CNRI. “This initiative is a significant step toward fostering diversity, equity, and inclusion in our research and health care communities. It not only creates opportunities for underrepresented DNP students but also underscores the vital role of diverse perspectives in advancing translational research and eliminating health disparities.”

The 12-week summer program, Translational Research and Implementation Science for Nurses (TRAIN) at Mount Sinai, will provide DNP students with impactful translational research mentorship within the clinical setting. TRAIN will deliver collaborative, multidisciplinary, multispecialty classroom education and hands-on research experiences mentored by experts in fields of health disparities, hypertension, and other clinical topics central to the NHLBI mission. Students who meet the criteria and are enrolled in any accredited DNP program are eligible to apply.

“DNP-prepared nurses from diverse backgrounds are uniquely and exceptionally qualified to lead translational research for advancing health equity,” says Bevin Cohen, PhD, MS, MPH, RN, CNRI Director.

The inaugural TRAIN program will run from Tuesday, May 28, through Friday, August 16, 2024, with participants devoting 30 hours per week to program activities. A generous stipend is provided to offset the financial impact of professional development in this critical field.

“Having nurses who are prepared to participate as full partners in the research enterprise is critically important,” says Lynne Richardson, MD, FACEP, Founding Co-Director of the Institute for Health Equity Research at Mount Sinai and Endowed Professor of Emergency Medicine and Health Equity Science, Icahn School of Medicine at Mount Sinai. “TRAIN will build the pool of doctoral nurses who are engaged in translational research and implementation science.”

Those interested in learning more about the TRAIN program can email questions to TRAIN@mountsinai.org.

Mount Sinai Researchers Publish First Genome-Wide Analysis of Binge Eating Disorder

Sep 22, 2023 | Featured, Psychiatry, Research

Binge eating disorder is the most common eating disorder in the United States, thought to affect as many as 3 percent of people during their lifetimes. Yet it remains poorly understood.

Now, researchers from the Icahn School of Medicine at Mount Sinai have made important progress with the first genome-wide analysis of binge eating disorder (BED). The study, published in Nature Genetics in August, identified genes that appear to be associated with BED risk. The study also found evidence that iron metabolism may play a role in the disease.

“By applying machine learning to the study of binge eating disorder, we’ve gained important insights into this poorly understood condition, and a new tool for exploring other underdiagnosed diseases,” says Panos Roussos, MD, PhD, Professor of Psychiatry, and Genetics and Genomic Sciences at Icahn Mount Sinai and Director of the Center for Disease Neurogenomics, who is a co-author of the study. “By combining Neuroscience with genomics and big data analysis, we can discover more about how the brain works and ultimately prevent psychiatric disease.”

A Fresh Look at Binge Eating Disorder

Binge eating disorder has significant impacts on a person’s health and well-being. “It can cause substantial distress and impairment in quality of life,” says Trevor Griffen, MD, PhD, a psychiatrist and neuroscientist who collaborated on the recent study while he was a fellow in child and adolescent psychiatry at Mount Sinai. “BED often co-occurs with other psychiatric disorders, such as depression, ADHD, and substance use, and seems to be a nexus of metabolic dysfunction, with associations to conditions like diabetes and high blood pressure.”

Trevor Griffen, MD, PhD

Yet it took a long time for the scientific community to recognize BED as a distinct disorder. It was first included as a new diagnosis when the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) was published in 2014. As a result, the diagnosis is all but absent in the electronic health records and large biobanks that researchers tap into for large-scale genetic analyses. Luckily, the Mount Sinai team developed a workaround.

“A big part of this study was using machine learning to figure out the people most likely to have BED,” says lead author David Burstein, PhD, a data scientist at Mount Sinai who works in the labs of Dr. Roussos and study co-author Georgios Voloudakis, MD, PhD, Assistant Professor of Psychiatry, and Genetics and Genomic Sciences.

Using electronic health record data from more than 767,000 people through the Million Veterans Project, Dr. Burstein and his colleagues applied machine learning approaches to sift through medical diagnoses, prescription medicines, body mass index (BMI) data, and other factors, looking for patterns that would predict if a person had BED. Applying their model to smaller cohorts of people with diagnosed BED, they showed the approach could meaningfully predict the disorder, even in the absence of a formal diagnosis.

Genes Point to New Binge Eating Disorder Treatments

Applying the machine learning model to some 362,000 people for whom genetic information was available, the researchers zeroed in on several genetic loci that appear to be associated with BED risk. One of the genes implicated in the new study is MCHR2, which is associated with the regulation of appetite in the brain. Two others, LRP11 and APOE, have previously been shown to play a role in cholesterol metabolism.

David Burstein, PhD

Another gene identified in the study, HFE, is involved in iron metabolism. The identification of HFE aligns with recent research suggesting iron metabolism may have an important role in regulating overall metabolism, Dr. Griffen says. In particular, iron overload seems to be associated with binge eating, the team found. Interestingly, iron deficiency has been implicated in pica, a disorder that drives people to eat non-food items such as soil or hair.

“There have been hints that iron is a player in the eating disorder world,” Dr. Burstein says. “This new study is more evidence that the mineral deserves a closer look.”

The findings also point toward new directions for treating BED. So far, treatment has mostly focused on repurposing therapies used for other disorders, such as depression or ADHD.

“This study identifies genes and systems that could serve as potential targets for treatments that finally address the underlying biology of BED,” Dr. Griffen says. “It also continues to build evidence that there are biological and genetic drivers of binge eating behaviors. The more we get that message out there, the more we can decrease stigma associated with binge eating.”

A New Tool for Eating Disorder Research

Dr. Griffen is continuing to collaborate with Dr. Roussos and Dr. Voloudakis to expand on their findings, with plans to develop mouse models and dig deeper into the mechanisms. Ultimately, their goal is to develop new treatments that target the underlying biology of BED.

Meanwhile, the researchers are eager to apply their new computational approach to other diseases such as bulimia nervosa—another common eating disorder for which no genome-wide analysis has ever been done.

“Being able to infer a diagnosis from medical records is really significant, not only for BED but for other eating disorders, which are often extremely underdiagnosed” and therefore challenging to study using electronic health records, Dr. Burstein says.

The approach can also extend the science into populations that have been overlooked in past research. Most research on eating disorders has focused on white females. Using machine learning, researchers can more thoroughly study eating disorders in males and populations with other racial or ethnic backgrounds.

“This is exciting work, with so many potential future directions,” Dr. Burstein says.

Could Personalized PSA Levels Enhance Prostate Cancer Screening?

Updated on Sep 14, 2023 | Featured, Research

The circular diagram displays which nearby gene or genes are connected to new variants linked with PSA levels. Kachuri, L., Hoffmann, T.J., Jiang, Y. et al.,Nature Medicine.

Prostate-specific antigen (PSA) screening has long been the gold standard for detecting prostate cancer at an early stage, aiming to improve treatment outcomes and increase survival rates.

But the screening tool is not without its controversies. PSA levels can be affected by various factors, resulting in false positives or negatives. This test may miss some cancers while detecting others that might not actually be clinically significant.

Therefore, there has been a growing interest in the field to find ways to enhance its effectiveness.

The answer might lie in every man’s genes.

In the June 1 online issue of Nature Medicine, a team of researchers from the Icahn School of Medicine at Mount Sinai and collaborators revealed that tailoring prostate cancer screening to individuals, in which PSA is adjusted for genetic factors, could offer a more viable approach to enhancing screening.

“While utilizing blood PSA levels for prostate cancer screening remains contentious due to issues like detecting cancer in men with low PSA and missing it in those with slightly elevated PSA, our multicenter study aimed to improve this approach by accounting for individual genetic variations in PSA levels,” says Robert J. Klein, PhD, Professor, Genetics and Genomic Sciences and a co-author of the paper.

Drawing from Dr. Klein’s earlier research highlighting the impact of individual genetics on PSA levels, this study aimed to determine whether adjusting for these genetic factors could enhance the accuracy of the screening tool.

“The goal is for this to pave the way for using genetically tailored PSA levels for prostate cancer screening, instead of using raw PSA levels,” says Robert J. Klein, PhD.

Using data from several cohorts of healthy men of diverse ancestries, the researchers measured PSA and genetic variants. Computational analyses linked each variant to PSA levels, and an algorithm constructed a genetic model for predicting PSA levels. The study assessed the effectiveness of PSA, either adjusted or not adjusted using this score, in predicting prostate cancer presence upon biopsy.

The researchers found that the score could predict nearly 10 percent of variation in PSA levels. However, it demonstrated more effectiveness in men of European descent than of East Asian or African heritage. Upon applying their scoring method to a dataset comprising men with and without confirmed prostate cancer through biopsy, the researchers estimated that about 30 percent of the men could have been spared from undergoing unnecessary biopsies.

“Our study shows how genetic variants can predict PSA levels and explores using this prediction in patient care. The goal is for this to pave the way for using genetically tailored PSA levels for prostate cancer screening, instead of using raw PSA levels,” says Dr. Klein.

Next, the researchers plan to perform a broader analysis involving more individuals of diverse ancestries, including through the BioMe® biobank at Mount Sinai. This step aims to confirm the applicability of the score across different populations.

Dr. Klein and his team are also exploring, as part of a separate undertaking, whether genetics could be used to better predict individuals at risk for prostate cancers that are potentially life-threatening.

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