Mes: agosto 2020

NEW YORK, Aug. 4, 2020 /PRNewswire-PRWeb/ — Researchers from the Icahn School of Medicine used a novel genetic sequencing technology to identify the genetic cause of—and a treatment for—a previously unknown severe auto inflam-matory syndrome affecting an 18-year-old girl since infancy.

The technology, tailored to the patient’s own genetic code at a single cell level, helped the re-searchers characterize an unknown mutation in a gene called JAK1 that caused the patient’s immune system to be permanently turned on, resulting in rashes over much of her skin, growth abnormalities, kidney failure, allergic hypersensitivities, and an unusual inflammatory condi-tion throughout the digestive tract.

The study, led by Dusan Bogunovic, PhD, Associate Professor of Microbiology, and Pediatrics, at the Icahn School of Medicine at Mount Sinai, faculty member of The Mindich Child Health and Development Institute and the Precision Immunology Institute at Mount Sinai, and Director of the Center for Inborn Errors of Immunity, was published in the August 3 issue of the journal Immunity. The discovery points toward new ways to study how genetic diseases manifest and presents a model of personalized diagnosis and treatment for patients with genetic diseases.

Autoinflammatory diseases are caused by abnormal activation of the immune system, leading to recurrent episodes of inflammation that may result in damaged or failed organs. The researchers determined that not all of the patient’s cells carried this mutation and had different genetic makeups or genotypes, what the researcher describe as a mosaic.

«Most genes use both their maternal and paternal copies, called alleles,» said Dr. Bogunovic. «Our findings show the JAK1 mutation in this patient used only one copy per cell, known as monoallelic expression. This challenges the textbook principles of genetics and may help ex-plain irregularities that are frequently encountered across genetic diseases.»

In the paper, the researchers describe the use of next-generation genomic, molecular, and multi-parametric immunological tools to probe the effects of the patient’s JAK1 mutation. By map-ping the genotype of JAK1 across the patient’s body, researchers were able to pinpoint precisely when the mutation arose in early development in the embryo. It later gave way to a host of symptoms from early childhood to early adulthood. The hunt began for a specific therapy that would curb the excessive activity of her mutant JAK1 and potentially cure her inflammatory symptoms.

«We identified one drug, tofacitinib, a JAK inhibitor, that curbed the excessive activity of her hyperactive inflammation. When administered the therapy, she rapidly improved within weeks. Her skin lesions cleared, her daily gastrointestinal symptoms resolved, and the clinical signs of inflammation went away, putting the patient in remission for two years until her unfortunate demise from coronavirus-related illness,» said Dr. Bogunovic. «This research helps better un-derstand the basic function of JAK1, which has broad implications for diseases of the immune system and how to treat them. In addition, the genetic discoveries uncovered in this case open up new research avenues into the complexities of how genetic diseases manifest and present a model of the future of personalized medicine. By coupling advanced clinical care with next-generation sequencing and detailed laboratory studies, we successfully diagnosed and treated a life-threatening disease.»

The research was accomplished with collaboration from the Vagelos College of Physicians and Surgeons at Columbia University Irving Medical Center, The Rockefeller University and New York University Grossman School of Medicine in New York City and the Universite de Nantes and Centre Hospitalier Universitaire de Nantes in Nantes, France.

About the Mount Sinai Health System
The Mount Sinai Health System is New York City’s largest academic medical system, encom-passing eight hospitals, a leading medical school, and a vast network of ambulatory practices throughout the greater New York region. Mount Sinai is a national and international source of unrivaled education, translational research and discovery, and collaborative clinical leadership ensuring that we deliver the highest quality care—from prevention to treatment of the most se-rious and complex human diseases. The Health System includes more than 7,200 physicians and features a robust and continually expanding network of multispecialty services, including more than 400 ambulatory practice locations throughout the five boroughs of New York City, Westchester, and Long Island. The Mount Sinai Hospital is ranked No. 14 on U.S. News & World Report’s «Honor Roll» of the Top 20 Best Hospitals in the country and the Icahn School of Medicine as one of the Top 20 Best Medical Schools in the country. Mount Sinai Health Sys-tem hospitals are consistently ranked regionally by specialty by U.S. News & World Report.

For more information, visit https://www.mountsinai.org or find Mount Sinai on Facebook, Twit-ter and YouTube.

SOURCE Mount Sinai Health System

OAKLAND, Calif., Aug. 4, 2020 /PRNewswire/ — GIRLS LEADERSHIP, a national, educational nonprofit started in 2009, announces new findings from READY TO LEAD, a groundbreaking research study that will monumentally impact the way that girls, especially Black and Latinx girls, are supported and taught to become skilled and ambitious leaders. These findings, released in partnership with lead sponsor Morgan Stanley, will inform new curriculum and pathways for leadership development for the diverse needs of 25 million girls across the U.S., initiating necessary changes within educational institutions to address systemic gender and racial injustices.

«We understand from the research findings that there is often a dangerous disconnect between the experiences and perspectives of our country’s teaching force—about 80% of whom are White women—and the girls—over 50% of whom are girls of color,» says Simone Marean, CEO and Cofounder of GIRLS LEADERSHIP. «This begged us to ask the question: What happens when Black and Latinx students, who know their power and already identify as leaders, speak up in a classroom? These findings forced us to think differently about how to properly support and train teachers to see the value—rather than the threat—of these strong voices. It also taught us that much more research is needed to understand this bias at the beginning, in elementary school.»

While attempting to better understand how and when girls develop their leadership identity and skills, GIRLS LEADERSHIP realized that existing studies were primarily focused on a very narrow scope of the population—White, middle class, and/or affluent girls. These studies did not account for important cultural distinctions for the majority of girls in the U.S.: girls of color.

«Morgan Stanley has a longstanding partnership with Girls Leadership and looks forward to working closely with them on the READY TO LEAD campaign, which will provide concrete actions to remove key barriers to leadership for young women of color,» says Susan Reid, Global Head of Diversity and Inclusion at Morgan Stanley. «Effecting positive and lasting change for marginalized communities is a central goal of our firm’s D&I efforts, and this campaign is a significant step in doing so for Black and Latinx women.»

GIRLS LEADERSHIP engaged Fluent Research to explore the internal and external factors that support and inhibit the leadership of girls of color. After surveying more than 2,000 girls and families and over 200 teachers nationally, and analyzing the qualitative and quantitative data, the organization determined the following:

• Black & Latinx Girls Are Ready to Lead: Black and Latinx girls have the highest levels of self-reported confidence, identify as leaders, and have leadership aspirations.
• Racial and Gender Bias Are the Key Barriers to Leadership: Black and Latinx girls identified the external factors of racial and gender bias present in their schools and broader society as significant obstacles to their leadership goals and opportunities.
• Teacher Bias Limits Leadership Opportunities: Students of color experience bias and unfair treatment in the form of not having the same opportunity to get leadership roles, teachers have lower expectations for Black and Latinx students compared to White students, and Black and Latinx experience harsher disciplinary actions than White students who exhibit the same behaviors.
• Teacher Support of Black and Latinx Girls’ Leadership Is Important: Black and Latinx girls score higher on the leadership scale than girls of other races/ethnicities, even if they are in schools with predominantly White teachers. However, in schools with predominantly teachers of color, Black and Latinx girls score even higher on the leadership scale.
• Parents and Mentors Contribute Significantly to Positive Leadership Aspirations: Black and Latinx girls who have parents and mentors who think of and refer to them as leaders positively correlates with higher scores on the leadership scale as well as the earning of higher grades.

These findings quantify both the strengths and assets of Black and Latinx girls and proves that they are poised to step into leadership—at school and beyond. Yet, institutional racial and gender bias in educational organizations and the broader society prevent Black and Latinx girls from fully activating their potential.

GIRLS LEADERSHIP seeks to shed light on these disparities and their unfortunate impact on Black and Latinx girls in order to be a conduit of change for how we design girls’ leadership curriculum and teach them in the U.S.. Through its proprietary Power ColLABorative Training—a professional development for teachers and youth-serving professionals focused on culturally responsive, girl-centered leadership development—GIRLS LEADERSHIP aims to build on its programs and scale its reach based on these findings.

GIRLS LEADERSHIP—with the support of Morgan Stanley in its role as lead sponsor of the READY TO LEAD study—is helping to permeate policy, culture, and practices in order to tell a new story about what happens to the power of the voices and leadership aspirations of girls of color in adolescence.

To support the research study, GIRLS LEADERSHIP is launching a social media campaign that focuses on encouraging Black and Latinx women and girls to share their personal stories about embracing their leadership abilities and finding their voice via the #ReadyToLead social media hashtag. The campaign will create a groundswell of community sharing while demanding necessary policy and systemic change to rebuild schools as the foundation of leadership, influence, and power for all girls.

To learn more, visit readytolead.girlsleadership.org and join the conversation with #ReadyToLead.

Other sponsors of this study include Genentech, Vodafone, Applied Materials Foundation, New York Women’s Foundation, Billie Jean King Leadership Foundation, The Harnisch Foundation, Paul Weiss, and Airbnb.

ABOUT GIRLS LEADERSHIP: Founded in 2009, Girls Leadership is a national educational nonprofit fiercely committed to teaching girls K–12 to exercise the power of their voice. GIRLS LEADERSHIP is devoted to understanding the personal, cultural, and structural factors that impact girls’ leadership identity and skill development at a crucial point in their trajectory. Its goal is to raise the bar on how institutions approach fostering leadership development for girls in a way that truly incorporates and addresses the impact of trauma, important cultural differences, and racial bias.

Media Contact:
Jennifer Arranaga
Jennifer@invisiblehand.co 
949-375-5043

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SOURCE Girls Leadership