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Framework to visualize lipid associations with hundreds of complex diseases from electronic health records



Photo credit: University of Pennsylvania

It is not shocking to anyone that fat molecules are linked to heart disease. Lipids, a term for fatty acids and their derivatives, are the subject of innumerable works on the subject of cardiovascular diseases. If you’re studying lipids, there’s a good chance you’re studying them in terms of people’s hearts and blood flow.

But does this strong connection actually mask some of the other connections lipids have with disease? Could it inadvertently blind some researchers and scientists that it may be the cause of other diseases like gout?

A new analysis of genetic information available in biobanks, led by researchers from the Perelman School of Medicine, raises this question. When analyzing data from the biobanks – which contain unidentified information such as DNA and disease diagnoses from thousands of real patients – the researchers found genetic links to diseases such as gout, as well as digestive disorders and local skin and adipose tissue infections. These connections to lipids could possibly be the causes of these conditions.

“We developed an efficient framework to not only identify robustly replicating lipid genes and visualize their associations with hundreds of complex diseases from electronic health records, but also to investigate whether lipids should be studied as potential causal exposures for some diseases,” said Yogasudha Veturi, Ph.D., a postdoctoral fellow in the Department of Genetics at Penn Medicine, and lead author of an article published in Nature Genetics on this analysis.

Analyze connections between lipids and diseases

In the first step of her analysis, Veturi, along with lead author Marylyn Ritchie, Ph.D., Director of the Center for Translational Bioinformatics and Professor of Genetics, and her research team, tried to identify all possible genetic variants associated with blood lipid levels. They did this by referencing millions of genetic markers in a number of biobanks – vast stores of genetic information – to see which appeared to be repeated across multiple sets of data, using an approach called a “genome-wide association study.” They also used gene expression data from an independent repository to identify new genes whose expression is genetically correlated to lipid levels, using an approach known as a “transcriptome-wide association study”.

With 67 novel lipid-linked genes identified as common in various biobanks, Veturi, Ritchie and their team took a second step: studying the links between the lipid genes identified and the diseases they might be linked to. This was accomplished by analyzing all lipid-linked genes detected (both newly identified and previously reported), disease diagnoses from electronic health records, and gene expression from an independent repository using an approach called an expression-based phenomenon-wide association study. They were able to identify genes that are not only linked to lipids, but also to certain diseases; this multiple bond phenomenon is called “pleiotropy”.

Of course, this analysis led to some of the anticipated diseases in the cardiovascular, endocrine and neurological diseases (such as Alzheimer’s and multiple sclerosis). However, some unexpected conditions also occurred, such as blood in the urine and disorders of the colored area of ​​the eye, the iris.

If this is a little complicated or surprising to you, think about it this way: Suppose you wanted to find out which sweet foods, beyond the obvious, get some of their sweetness from chocolate.

Framework for visualizing lipid associations with hundreds of complex diseases from electronic patient records

Photo credit: University of Pennsylvania

So at this step, it would be like examining the chocolate itself, as well as some of the sugars you know that go into making chocolate. If you look through these and break down recipes, you can find the ones you would expect: chocolate chip cookies, cookie dough ice cream, etc. But you could also find something you didn’t know about like mole sauce. And because you looked at the sugar next to the chocolate, you’d realize that these recipes might not require the chocolate as much as the sugar in it.

Once you have this insight and know that there is no need to look for chocolate in the recipes at all, you can look for the exact combination of sugars you know that come together to make chocolate. And that’s essentially what the researchers did in the third step, through a process called “Mendelian randomization”: They simultaneously examined a large number of genetic variants that were randomly associated with lipids – and determined whether lipids were a possible cause of various diseases could. By not directly examining the relationship between lipids themselves and disease, they mitigated the influence of unintended biases that might have influenced the results.

This analysis was like looking at recipes in a different way to discover elements related to chocolate. While you still find the expected, like brownies, you’re also discovering something completely unfamiliar, like a pizza. This final step also led to the expected discovery that cardiovascular disease has putative causal links to lipids (like finding brownies with chocolate). In addition, the research team also discovered that lipid genes have causal links to more surprising diseases such as gout, excessive blood sodium levels, bronchial neoplasms, and skin and adipose tissue infections. In this step, other diseases that were linked to lipid genes from the second phase of the analysis were also found.

Unexpected lipid compounds open doors for new research and treatments

The whole point of the process is to take a better look at the contributing parts and take a step outside of conventional thinking, maybe to discover something new.

In this way, this research shows a way to expand the science behind disease. For example, if you were doing a keyword search in the New England Journal of Medicine and searched for both “gout” and “lipid”, you would get 72 results, the top articles still focusing on cardiovascular disease and cardiovascular effects Focus on treating patients with gout.

“Of course, the effects of lipids on cardiovascular disease are hugely important and should continue to be studied extensively,” said Ritchie. “But we hope that by uncovering the wide range of effects and potential causes lipids could have, more research will be carried out in these lesser-understood areas. Hopefully this will lead to some breakthroughs and future drug development.”

Interestingly, researchers believe that the lipid study process they developed could be used to study other molecules or genes that may not be prominent in certain diseases.

For example, high levels of liver enzymes (e.g., ALT, GGT) typically indicate some signs of liver damage or diseases such as non-alcoholic fatty liver and pancreatitis. They have also been linked to heart failure.

“It would be fascinating to see whether genes that cause liver damage have similar effects on diseases in other organ systems or whether high liver enzyme levels could lead to other diseases in the electronic health record,” said Veturi. “Once functional validation, these discoveries can help reuse existing drugs to treat more than the targeted disease.”

Blood lipids related to cancer, along with family history

More information:
Yogasudha Veturi et al., A Unified Framework Identifies New Links Between Plasma Lipids and Diseases from Electronic Medical Records Across Large Cohorts, Nature Genetics (2021). DOI: 10.1038 / s41588-021-00879-y Provided by the University of Pennsylvania

Quote: Framework for the visualization of lipid associations with hundreds of complex diseases from electronic health records (2021, July 2), accessed on July 2, 2021 from hundreds. html

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First Lady Wolf Highlights Importance of Mental Health for Justice-Impacted Women



Today, First Lady Frances Wolf hosted Women In Reentry: Mental Health, the third in a series of virtual conversations between reentry advocates and mental health professionals. The panel discussed the impact of incarceration on a woman’s mental health and the impact it can have on her re-entry. They also highlighted active programs that support the mental health needs of women affected by the judiciary.

Panelists included:

  • Dr. Dan Jurman, Executive Director of the PA Office of Advocacy and Reform (OAR)
  • Kelly Evans, Assistant Secretary for Reintegration in the PA Correctional Facility (DOC)
  • Jen Smith, PA Department of Drug and Alcohol Programs (DDAP) secretary
  • Rev. Dr. Michelle Simmons, CEO and Founder of Why Not Prosper
  • Jamie Minick, Assistant Branch Manager at Bethany Christian Services / Renew Program

“As a society, we are becoming more aware of the role mental health plays in our collective wellbeing, and we see the downside of not caring about it or addressing our trauma,” said First Lady Wolf. “For women affected by justice, these realities are no different, and helping them get support, advice or treatment is the foundation of their success when they return home.”

Dr. Jurman and Sec. Smith started the conversation by defining trauma and substance use disorders (SUDs) and explaining why understanding these terms is key to managing the mental health of women serving in the criminal justice system.

“It is critical that we understand the impact trauma and mental illness have on women before and during incarceration and what this means for their successful reintegration into our communities after their release,” said Dr. Jurman. “Once you understand the effects of these trauma, you can work to prevent them and create environments in which these women can thrive.”

According to the Pennsylvania Department of Corrections, about 66 percent of women in state correctional facilities (SCIs) are on the DOC mental health list, while over 50 percent of women have a history of substance abuse. Since most women are also mothers and / or first-time carers, the need for gender-specific, trauma-informed care is critical not only for the well-being of the returnee themselves, but of their entire families and communities.

For more than 20 years, SCI-Muncy, one of two SCIs for women, has established programs to treat trauma and abuse, which are very often part of the life stories of incarcerated women. New employees in PA women’s prisons are required to complete PA Correction Women Offenders training that trains them on how to be the most responsive when working with a female population. DOC also offers Seeking Safety, a gender-specific program that addresses post-traumatic stress disorder and SUDs. DOC is currently developing a new assessment tool that takes gender differences into account in risk / needs assessment and minimizes the bias that leads to women being “overclassified”.

“Mental health problems and substance use disorders are widespread among women entering our system, and often both go hand in hand,” said Assistant Secretary Evans. “The Pennsylvania Department of Corrections continues to recognize the importance of meeting individuals at admission where they are and providing each individual returne with the treatment and rehabilitation support services that are unique to their situation. We continue to take a holistic approach to prepare our returners for the many challenges they will face when they return to work. We offer many treatment programs, career opportunities, educational offers and all-round services for those who are in the process of re-entry in order to ensure that the handover is as warm as possible. This includes the recent addition to drug-assisted treatment (MAT) for people with SUD and the use of probation officers and social workers for re-entry to support a successful re-entry.

In October 2018, the Substance Abuse and Mental Health Agency (SAMHSA) granted Pennsylvania $ 55.9 million in federal grants for the state’s response to the opioid epidemic. The Wolf Administration has allocated $ 3 million to the Department of Corrections to significantly expand access to FDA-cleared MAT for returnees and to aid the agency’s efforts to hire an in-house addiction medicine specialist. Then, in 2020, more than $ 1.2 million in grants were awarded to nine county jails to support the county jail-backed MAT program to increase opioid use disorder (OUD) services for those living in Jails and prisons throughout the Commonwealth are incarcerated.

“Expanding access to evidence-based MAT and services has been a key goal of the Wolf Administration in tackling the addiction crisis, especially for priority populations such as incarcerated women,” said Secretary Smith. “We have seen the lives of those in prison have changed with the expansion of state-level treatment, and we must continue to develop programs such as drug courts and police diversion programs that have and have been successful in rehabilitating people Break the cycle. “From relapse.”

The 2019 American Psychological Association article Imprisoned Women: Poverty, Trauma, and Unmet need Notes that female offenders are often more exposed to cumulative trauma and physical and sexual victimization over the life cycle; untreated mental illness; the use of substances to cope with stress; and behavioral decisions that arise in connection with gross economic inequalities. In addition, once they are released, women face an uphill battle with health challenges as well as emotional and behavioral disorders. For those who did not receive the required mental or SUD treatment while in detention, relapse rates are high, especially if there are no appropriate community services.

Community-based organizations like Renew and Why Not Prosper empower women to prioritize their mental health through the various services they offer.

Recovering Mothers with Newborns, or ReNew, is a prevention program by Bethany Christian Services that supports expectant mothers with a history of drug use who are also incarcerated by helping them before and after release from Lancaster County Prison (LCP) as well as before and after the birth of their child. Your process is to identify eligible women and screen them upon entry into the LCP; Conduct an assessment to identify each woman’s needs; Coordinate treatment prior to discharge from the LCP; Ensuring continuous care for up to one year after the birth of the child; and assistance in recovery.

Why Not Prosper was founded in Philadelphia by Rev. Dr. Michelle Simmons founded and connects women with resources, including those related to mental health treatment, through her Sisters Achieving Mentorship through Transformation (SAM) hotline; a community resource center program for women in the Germantown area; and pre-release mentoring for women in the Riverside Correctional Facility and SCIs Muncy and Cambridge, among others. Why Not Prosper currently serves women in Philadelphia and recently secured a location in Harrisburg to expand its reach. The next Women in Reentry roundtable is scheduled for Wednesday, December 15th.

The conversation can be viewed on the One Lens Facebook page or PAcast.

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BD Issues 2021 Global Inclusion, Diversity and Equity Report



The report, titled “Together We Advance ID&E,” highlights the progress BD is making on a critical aspect of human health, which is one of four pillars of the company’s environmental, social and governance (ESG) strategy. BD’s commitment to ID&E sets a new standard for how the company works together to innovate new products and solutions to enable the future of healthcare.

The ID&E systems, processes and tools that drive action and accountability at BD are detailed in the report. They are the foundation on which BD will further accelerate its ID&E efforts to meet the company’s 2030+ goals of maintaining a healthy and thriving workforce, nurturing the corporate culture of inclusion, safety and wellbeing, and also to the community and health contributes to the company.

“The pillars of our ESG strategy are interlinked, and our ID&E programs are critical to our making a meaningful contribution to business, planet, community and human health,” said Tom Poland, Chairman, CEO and President of BD. “We were on our way to creating a more inclusive workplace where members of our global team could be themselves, feel comfortable, speak up, grow and develop in their careers, and share their best and most innovative thinking. When more people and perspectives sit at the table, we produce better, more innovative solutions for the healthcare industry. “

Goals for 2030+ set last month include improving ethnic and gender diversity by 1% year-on-year at management and leadership levels and ensuring equal pay (by gender) around the world. Globally, women held 39.9% of management positions and 29.9% of management positions at BD at the end of fiscal 2021, improvements over the previous year and above the benchmarks in the healthcare industry. Additionally, 30.2% of BD’s US workforce are ethnically diverse at the management level and 21.2% at the executive level. Further demographic data will be published in the sustainability report FY2021.

“Although we have seen an increase in ethnic and gender diversity, we are working hard to keep that progress going,” said Nicole Thompson, Vice President HR – Inclusion, Diversity, Equity & Engagement at BD. “We are well positioned to meet and exceed the growing expectations of our employees, customers, shareholders and the communities we serve by accelerating ID&E programs that help us advance the world of health for all.”

As part of BD’s commitment to ID&E, the company regularly participates in external benchmarking surveys to track progress and provide additional visibility to stakeholders. In 2021, it was included on prestigious lists in recognition of the company’s inclusive policies and practices, including:

  • Named Top Diversity Company in the United States by DiversityInc.
  • 100% score in the Corporate Equality Index of the Human Rights Campaign and recognized as one of the best employers for LGBT equality.
  • 90% score in DisabilityIN’s Disability Equality Index and recognized as the best employer for the inclusion of people with disabilities.

For more information on the company’s ID&E programs, please visit

About BD
BD is one of the largest global medical device companies in the world, driving the world of health by improving medical discovery, diagnostics, and care. The company supports the heroes at the forefront of healthcare by developing innovative technologies, services, and solutions that advance both clinical therapy for patients and clinical processes for healthcare providers. BD and its 70,000 employees are passionate and committed to improving the safety and efficiency of the clinician’s care process, enabling laboratory scientists to accurately identify disease, and improving researchers’ skills to develop the next generation of diagnostics and therapeutics . BD is present in virtually every country and works with organizations around the world to address some of the toughest global health problems. By working closely with customers, BD can help improve outcomes, reduce costs, increase efficiency, improve safety and expand access to health care. For more information on BD, please visit or contact us on LinkedIn at and Twitter @BDandCo.


Troy Kirkpatrick

Nadia Goncalves

Vice President, Public Relations

Senior Director, Investor Relations



[email protected]

[email protected]

SOURCE BD (Becton, Dickinson and Company)

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