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Emergency Medicine

Bridging the ruralurban health-care divide through community … – Nature.com

Kotzebue is one of the most remote places in Alaska. The Siamit programme, a collaboration between Indigenous Iupiat people and researchers based at institutions in Boston, Massachusetts, aims to improve the health of people in Kotzebue and the surrounding region.Credit: Design Pics Inc/Alamy

Achieving health equity in rural areas requires researchers, communities and health workers to collaborate to translate knowledge into clinical care1. Partnerships that bridge research hospitals, medical schools and rural health systems can play a part in this process by fostering relationships, sharing training infrastructure and exchanging knowledge between communities, academic institutions, patients and carers2. In turn, rural communities can be productive, lifelong homes for clinician-researchers who are pursuing careers in academic medicine3.

Our programme, Siamit, is a small-scale example of this model in a remote, predominantly Indigenous Iupiat region in northwest Alaska that spans 12 villages and more than 100,000 square kilometres of the Alaskan Arctic. Founded in 2016, Siamit encompasses a series of interwoven research, training and service partnerships between three organizations: the Maniilaq Association, the regions non-profit health system; the Harvard Medical School (HMS) Department of Global Health and Social Medicine, based in Boston, Massachusetts; and the Massachusetts General Hospital (MGH) Division of Wilderness Medicine, also in Boston. Siamits mission is to advance rural health equity by connecting academic medicine and community care.

Our first year of programme development focused on a series of needs assessments, conducted in each of the regions villages by teams of academics and community members. Through interviews with patients and their families and professional carers, as well as other community members, we identified three priorities: expanding access to physician care in outlying villages, meeting workforce-development priorities in the region, and addressing social- and behavioural-health needs through the primary-care system4.

African scientists call for research equity as a cancer crisis looms

In 2017, we began to address these priorities. Physicians from MGH, including faculty members and fellows in relevant specialties, began working at village clinics and the Maniilaq Health Center, the regional hub hospital in Kotzebue, Alaska. Meanwhile, academic staff in both Alaska and Boston developed and taught a social-medicine curriculum for health workers and trainees in rural Alaska. Pursuing funding for research and clinical practice in parallel became part of our strategy to implement necessary health-care programmes, while evaluating their impact and sharing results. We established programmes in primary care, emergency medicine, psychiatry and addiction medicine, womens health and social medicine each of which includes research components that inform programme design. In all programmes, the main focus is on care delivery.

In the following years, Siamit focused on expanding research and training infrastructure between Alaska and Boston. We developed a medical-resident rotation programme at Maniilaq Health Center that supports physicians pursuing rural health careers, as well as a postgraduate research fellowship for early-career Indigenous health workers. Our faculty members developed medical-education courses for physicians across the Indian Health Service, the national health programme serving American Indians and Alaska Natives, and the Alaska Tribal Health System, the sovereign health system serving Alaska Natives5. Over time, some graduates became part of our core medical staff and Alaska-based faculty; others became affiliated faculty and research partners at academic medical centres across the United States. An ecosystem began to take shape, with the three-fold mission of teaching, research and service at the centre, at the second most remote hospital in the country.

Indias social health activists are tackling cancer in rural communities

Over the past seven years, a few principles common to community-medicine projects have resonated deeply in our work. First, governance is key. Rural communities tend to know their needs, values and priorities best, and they should lead partnerships to address those priorities. In Indigenous-health research, in the face of a long history of extraction of knowledge and exploitation, particular attention should be paid to governance systems and sovereignty6. Formal community leadership and clearly stated organizational values can all have a role in reinforcing this principle.

Second, health research in under-resourced communities should focus on real, material improvements to health and health care. This could mean that the scope of work is narrower and deeper, with less focus on the incentives of conventional academic life, and more emphasis on long-term commitments to understanding local contexts, needs and concerns. Such work requires a particular kind of researcher, as well as a particular kind of academic home. Institutions that move towards embracing public service, social responsibility and care for the community in their hiring and promotion criteria will be the ones where such efforts succeed.

Third, the value of academicrural health partnerships grows exponentially once a certain threshold of integration is reached. Isolated projects can have great impact, and a more limited, well-defined scope of work can make sense as an anchor point for academiccommunity teams. Still, the ecosystem of relationships, projects and priorities that has taken shape under a broader, community-governed mandate in our region has value. Such an approach requires a clear framework for decision-making and action, along with optimism for the future of rural health.

Although rural communities might be distant from the typically urban infrastructure of health research and training, many have high levels of community engagement, strong social networks and innovative health systems that dovetail with the ethos and function of academic medicine. We can imagine a not-too-distant future in which many academic clinicians base their lives in rural and remote communities, which will have a larger role in the shape and conduct of academic life. The common ground between rural priorities, clinical need and academic mission is enough for lives, careers and institutions to be built on and all parties will be better for it.

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Bridging the ruralurban health-care divide through community ... - Nature.com

Emergency Medicine

Trunnionosis in Metal-on-Polyethylene Total Hip Arthroplasty With … – Cureus

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Genetics

Cannabis addiction may be partly down to genetics – New Scientist

Cannabis use disorder may be influenced by genetics

FangXiaNuo/Getty Images

People who develop a cannabis use disorder share certain genetic markers, and that pattern holds across racial groups, according to the largest study of its kind.

Around one-third of people who self-identify as regular cannabis users will go on to develop cannabis use disorder the continued, regular use of the drug despite a negative impact on ones life. People with cannabis use disorder often find it difficult to quit the drug and need higher and higher doses to feel an effect.

Its possible that you could be only a weekend user and still meet the criteria for cannabis use disorder, but its pretty unlikely, says Joel Gelernter at the Yale School of Medicine. These are mostly much more frequent users.

The genetic link to problematic cannabis use has been explored before, but this latest research is the first to look at a large sample across different racial backgrounds. Researchers combed the genetic information of more than 1 million individuals registered in the Million Veteran Program, which collects data from military members in the US. Their sample included a range of ancestry groups, such as European, African, East Asian and mixed race. Then, using a technique called genetic correlation, they compared variations in each persons DNA to see if these were associated with a certain trait: in this case, cannabis use disorder.

We found that the pattern was very close to identical across the different ancestries, says Dan Levey, also at the Yale School of Medicine. They compared variations in each persons DNA and found that some were associated with a certain trait. For example, in people with European ancestry, strong expression of a neuronal receptor called CHRNA2 was associated with a higher risk of developing cannabis use disorder.

The researchers also analysed health records and found a link between lung cancer and developing cannabis use disorder for those with European ancestry, even when controlling for cigarette use. Gelernter says that, as a result, we may see a rise in lung cancer cases which often take years to diagnose alongside the rise in the popularity of cannabis. If smoking pot does lead to increased risk for lung cancer, the uptick wont be observable until decades from now, says Gelernter. This is something that people should be on the lookout for.

As the use of marijuana and its compounds rises around the world, New Scientist explores the latest research on the medical potential of cannabis, how it is grown and its environmental impact, the way cannabis affects our bodies and minds and what the marijuana of the future will look like.

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Cannabis addiction may be partly down to genetics - New Scientist

Genetics

Planting the milestones of human genetics in Senegal – Nature.com

I remember, after my PharmD graduation, how happy my mother was. She said, Now that you are done with school, you have to set up your own drugstore, find a good husband and settle down. However, my destiny was far from supporting this maternal wish since my aim at that time was to become a medical researcher. I had tremendous support from my eldest brother, Mouhamadou Ndiaye, an eminent professor of cardiac and vascular surgery at the University Cheikh Anta Diop (UCAD). I started with two years training in clinical biochemistry, hematology and immunology at the University of Cocody in the Ivory Coast.

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Planting the milestones of human genetics in Senegal - Nature.com

Genetics

Genetic continuity and change among the Indigenous peoples of … – Nature.com

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Genetics

Flagship Pioneering Unveils Quotient Therapeutics to Create … – PR Newswire

Quotient's Somatic Genomics platform reveals new approaches to treat disease based on the vast genetic variation present in the body's trillions of cells

Company emerges from stealth after two years of platform development with an initial commitment of $50 million from Flagship Pioneering

CAMBRIDGE, Mass., Nov. 21, 2023 /PRNewswire/ -- Flagship Pioneering, thebioplatform innovation company, today unveiled Quotient Therapeutics, a company pioneering somatic genomics, the study of genetic variation at the cellular level, to discover therapeutics informed by new links between genes and disease. Flagship has made an initial commitment of $50 million to advance development of the company's platform following two years of development at Flagship Labs and pursue a pipeline of medicines across a wide range of therapeutic areas and modalities.

"The assumption that we each have a single genome turns out to be off by a trillion-fold," said Geoffrey von Maltzahn, Ph.D., Co-Founder and Chief Executive Officer of Quotient Therapeutics and General Partner, Flagship Pioneering. "All cells accumulate random genetic changes in their DNA, resulting in trillions of unique genomes in the body. Some genetic changes make a cell resistant or vulnerable to disease, while others can cause disease. We started Quotient to study the natural genetics library inside every tissue, discover gene variants that are beneficial, neutral, or disease-causing, and to harness that knowledge to develop the medicines of tomorrow."

Quotient's Somatic Genomics platform utilizes proprietary single molecule, genome sequencing technology to reveal the extensive variation encoded in the somatic genome at unprecedented resolution. Created by Flagship scientists in partnership with leading geneticists at the Wellcome Sanger Institute and the University of Texas Southwestern, this platform is able to study natural selection at the cellular level through four steps: phenotyping of cells from clinical tissue samples, isolation, single cell genotyping, and computation. As a result, naturally selected genes, proteins, and pathways are identified as prospective targets for the development of transformative therapies intended to cure, prevent, or reverse disease. Quotient's approach will enable the development of first-in-class drugs across a broad range of modalities and therapeutic areas, including immune disease, cardiometabolic disease, infectious disease, oncology, neurodegenerative disease, rare disease, and aging.

Jacob Rubens, Ph.D., Co-Founder and President of Quotient Therapeutics and Origination Partner, Flagship Pioneering added, "At Quotient, we're inspired by the maxim that 'Nothing in biology makes sense except in the light of evolution.' Our Somatic Genomics platform measures genetic changes underlying the evolution of cells in the body to make sense of disease, illuminating the path to a wide range of potentially curative medicines. Already, we've created the world's largest somatic genomes dataset, demonstrated the applicability of our platform to multiple therapeutic areas, and translated our genetic discoveries into drug discoveries."

Noubar Afeyan, Ph.D., Founder and CEO, Flagship Pioneering and Co-Founder and Strategic Oversight Board Chairman, Quotient Therapeutics, remarked, "One of the defining characteristics of the modern era of genetics has been the systematic comparison of people's genomes. Today, we stand at the precipice of a new era, enabled by the comparison of the trillions of genomes inside each one of us. Genetics has already created tremendous advances in human health, and Quotient is pioneering the next big leap forward."

Academic co-founders of Quotient include Professor Sir Mike Stratton, MD, PhD, Inigo Martincorena, PhD, and Peter Campbell, PhD, from the Wellcome Sanger Institute, and Hao Zhu, MD, from University of Texas Southwestern. In addition to von Maltzahn and Rubens, Quotient is led by Scott Hayton, Ph.D., Acting Chief Operating Officer, Caroline Fox,M.D., MPH, Senior Vice President, Head of Genetics and Target Discovery, and SimonBrunner, Ph.D., Co-Founder and Head of Platform. Quotient is co-located in Cambridge, MA and Cambridge, UK with research facilities in both cities.

To learn more about Quotient Therapeutics visit http://www.quotient-tx.com.

About Quotient Therapeutics

Quotient Therapeutics is the first company to systematically study the genetic variation and evolution of the trillions of cells inside the human body. The company's Somatic Genomics platform reveals novel links between genes and disease across a broad range of therapeutic areas, enabling the discovery of transformative medicines intended to cure, prevent, or reverse disease. Founded by Flagship Pioneering in 2022, Quotient is backed by experts in the field of somatic genetics.

About Flagship Pioneering

Flagship Pioneering is a biotechnology company that invents and builds platform companies, each with the potential for multiple products that transform human health or sustainability. Since its launch in 2000, Flagship has originated and fostered more than 100 scientific ventures, resulting in more than $90 billion in aggregate value. To date, Flagship has deployed over $3.4 billion in capital toward the founding and growth of its pioneering companies alongside more than $26 billion of follow-on investments from other institutions. The current Flagship ecosystem comprises 41 companies, including Denali Therapeutics(NASDAQ: DNLI),Foghorn Therapeutics(NASDAQ: FHTX),Generate:Biomedicines,Inari,Indigo Agriculture,Moderna(NASDAQ: MRNA),Omega Therapeutics(NASDAQ: OMGA),Sana Biotechnology(NASDAQ: SANA),Seres Therapeutics(NASDAQ: MCRB) andTessera Therapeutics.

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Flagship Pioneering Unveils Quotient Therapeutics to Create ... - PR Newswire

Genetics

Weaponized genomics: potential threats to international and human … – Nature.com

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Genetics

New insights into genetic risk factors for early breast cancer in … – News-Medical.Net

A new research paper was published in Oncotarget's Volume 14 on October 4, 2023, entitled, "Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity."

Breast cancer (BC) is the most common type of cancer among women in Kazakhstan. To date, little data are available on the spectrum of genetic variation in Kazakh women with BC.

In this new study, researchers Gulnur Zhunussova, Nazgul Omarbayeva, Dilyara Kaidarova, Saltanat Abdikerim, Natalya Mit, Ilya Kisselev, Kanagat Yergali, Aigul Zhunussova, Tatyana Goncharova, Aliya Abdrakhmanova, and Leyla Djansugurova from the Institute of Genetics and Physiology, Kazakh Institute of Oncology and Radiology, Al-Farabi Kazakh National University, and Asfendiyarov Kazakh National Medical University aimed to identify population-specific genetic markers associated with the risk of developing early-onset BC and test their association with clinical and prognostic factors.

"To our knowledge, this is the first study using NGS [next-generation sequencing] technology to study the genetic predisposition to early-onset BC women from Kazakhstan and assess their impact on the patients' clinical outcomes."

The study included 224 Kazakh women diagnosed with BC (40 age). Entire coding regions (>1700 exons) and the flanking noncoding regions of 94 cancer-associated genes were sequenced from blood DNA using MiSeq platform. The researchers identified 38 unique pathogenic variants (PVs) in 13 different cancer-predisposing genes among 57 patients (25.4%), of which 6 variants were novel. In total, 12 of the 38 distinct PVs were detected recurrently, including BRCA1 c.5266dup, c.5278-2del, and c.2T>C, and BRCA2 c.9409dup and c.9253del that may be founder in this population. BRCA1 carriers were significantly more likely to develop triple-negative BC (OR = 6.61, 95% CI 2.4417.91, p = 0.0002) and have family history of BC (OR = 3.17, 95% CI 1.148.76, p = 0.03) compared to non-carriers.

"This study allowed the identification of PVs specific to early-onset BC, which may be used as a foundation to develop regional expertise and diagnostic tools for early detection of BC in young Kazakh women."

Source:

Journal reference:

Zhunussova, G., et al. (2023). Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity. Oncotarget. doi.org/10.18632/oncotarget.28518.

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New insights into genetic risk factors for early breast cancer in ... - News-Medical.Net