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Genomics Medicine

Rossella Libé
INTRODUCTION: Adrenocortical carcinoma (ACC) is a rare cancer, with an incidence less than 0.7-1.5 per 1 million people per year, with a poor prognosis. The overall survival (OS) depens on the ENSAT stage: in particular in metastatic ACC the OS varies between 10 and 20 months, with a 5-yrs survival around 10%. ACC present a different behaviour, probably due to a different biology. For these reason a careful prognostic classification is mandatory, in order to stratify the patients and purpose a specific management...
September 12, 2018: Minerva Endocrinologica
Amber M Bates, Maria Paula Gomez Hernandez, Emily A Lanzel, Fang Qian, Kim A Brogden
Background: Biomarkers like programmed death ligand-1 (PDL1) have become a focal point for immunotherapeutic checkpoint inhibition in head and neck squamous cell carcinoma (HNSCC). However, it's only part of the total immunosuppressive biomarker profile of HNSCC cells. Matrix metalloproteinases (MMPs) are enzymes that break down the basement membrane allowing cancer cells to metastasize and play an important role in the tumor microenvironment. MMPs can also activate certain cytokines, growth factors, and chemokines post-translationally...
June 2018: Translational Cancer Research
Ali Torkamani
The manifestation of disease can vary substantially from person to person. Yet, much of the emphasis of genomics in individualized medicine has been on linking genetic variants to broad disease categories. A new approach takes a first step towards predicting detailed phenotypic information from disease-causative variants.
September 13, 2018: Trends in Genetics: TIG
M Nikanjam, P R Cohen, S Kato, J K Sicklick, R Kurzrock
Metastatic basal cell carcinoma is an ultra-rare manifestation of a common disease, appearing in 0.0028% to 0.5% of basal cell carcinomas. Initial therapeutic efforts focused on cytotoxic chemotherapy administration. However, it is now known that the Hedgehog signaling pathway is crucial for basal cell proliferation and Hedgehog pathway mutations may lead to tumorigenesis; thus, small molecule inhibitors of alterations in the components of this pathway, including smoothened (SMO) and GLI, have been the focus of recent therapeutic developments...
September 14, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
Leili Rohani, Adiv A Johnson, Pooyan Naghsh, Derrick E Rancourt, Henning Ulrich, Heidrun Holland
Now that induced pluripotent stem cell (iPSC)-based transplants have been performed in humans and organizations have begun producing clinical-grade iPSCs, it is imperative that strict quality control standards are agreed upon. This is essential as both ESCs and iPSCs have been shown to accumulate genomic aberrations during long-term culturing. These aberrations can include copy number variations, trisomy, amplifications of chromosomal regions, deletions of chromosomal regions, loss of heterozygosity, and epigenetic abnormalities...
September 14, 2018: Stem Cells Translational Medicine
Bhavna Hurgobin, Emma de Jong, Anthony Bosco
Respiratory diseases such as asthma, chronic obstructive pulmonary disease and lung cancer represent a critical area for medical research as millions of people are affected globally. The development of new strategies for treatment and/or prevention, and the identification of biomarkers for patient stratification and early detection of disease inception are essential to reducing the impact of lung diseases. The successful translation of research into clinical practice requires a detailed understanding of the underlying biology...
September 14, 2018: Respirology: Official Journal of the Asian Pacific Society of Respirology
Maryam El Gewely, Mélanie Welman, Lan Xiong, Sophie Yin, Hélène Catoire, Guy Rouleau, Jacques Y Montplaisir, Alex Desautels, Simon C Warby
Two genome-wide association studies (GWAS) suggest that insomnia and restless legs syndrome (RLS) share a common genetic basis. While the identified genetic variation in the MEIS1 gene was previously associated with RLS, the two GWAS suggest a novel and independent association with insomnia symptoms. To test the potential pleiotropic effect of MEIS1, we genotyped three MEIS1 variants in 646 chronic insomnia disorder (CID) patients with and without RLS. To confirm our results, we compared the allelic and genotypic distributions of the CID cohort with ethnically matched controls and RLS cases in the French Canadian cohort...
September 12, 2018: Sleep
Masaya Tsukamoto, Toshiya Nishimura, Kyohei Yodoe, Ryoji Kanegi, Yasunori Tsujimoto, Md Emtiaj Alam, Mizuki Kuramochi, Mitsuru Kuwamura, Manami Ohtaka, Ken Nishimura, Mahito Nakanishi, Toshio Inaba, Kikuya Sugiura, Shingo Hatoya
Canine induced pluripotent stem cells (ciPSCs) can be used in regenerative medicine. However, there are no reports on the generation of genome integration free and completely exogeneous gene silenced (footprint-free) ciPSCs that are tolerant to enzymatic single cell passage. In this study, we reprogrammed canine embryonic fibroblasts (CEFs) using the auto-erasable replication-defective and persistent Sendai virus vector, SeVdp(KOSM)302L and generated two ciPSC lines. The ciPSCs were positive for pluripotent markers including alkaline phosphatase activity as well as OCT3/4, SOX2 and NANOG transcripts and NANOG, Stage Specific Embryonic Antigen-1 and partial TRA-1-60 protein expression, even after SeVdp(KOSM)302L removal...
September 14, 2018: Stem Cells and Development
Ann F Chou, John Mulvihill, Celia Kaye, Sylvia Mann, Marc S Williams, Lori Williamson
PURPOSE: The Institute of Medicine recommended the utilization of metrics to improve quality in health care, although they have rarely been used in genetics. This study developed and tested a set of metrics for a quality assessment tool for genetic services METHODS: A systematic review of literature, guidelines, and consensus statements identified candidate measures for a possible assessment tool. An expert panel conducted a modified Delphi technique to rank the metrics. Ratings were computed to generate a score for each metric, creating a set of metrics for consensus discussions, pilot testing, and feasibility testing in eight Midwestern states...
September 14, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Sean P Farris, Brien P Riley, Robert W Williams, Megan K Mulligan, Michael J Miles, Marcelo F Lopez, Robert Hitzemann, Ovidiu D Iancu, Alexander Colville, Nicole A R Walter, Priscila Darakjian, Denesa L Oberbeck, James B Daunais, Christina L Zheng, Robert P Searles, Shannon K McWeeney, Kathleen A Grant, R Dayne Mayfield
This review summarizes the proceedings of a symposium presented at the "Alcoholism and Stress: A Framework for Future Treatment Strategies" conference held in Volterra, Italy on May 9-12, 2017. Psychiatric diseases, including alcohol-use disorders (AUDs), are influenced through complex interactions of genes, neurobiological pathways, and environmental influences. A better understanding of the common neurobiological mechanisms underlying an AUD necessitates an integrative approach, involving a systematic assessment of diverse species and phenotype measures...
December 6, 2017: Alcohol
Cary Jo R Schlick, Joshua P Castle, David J Bentrem
Clinical research has boomed over the past decade, with the development of multiple clinical datasets that are available for retrospective review. However, data remain incomplete based on fragmented reporting, provider change, and loss of follow-up. New technologies are being developed to assist with this limitation, by joining health care systems' medical records, and tracking Medicare claims files. The future of health care will rely more heavily on these systems, and artificial intelligence to quickly pull relevant clinical and genomic data regarding particular diagnoses, as a means to personalize medicine...
October 2018: Surgical Oncology Clinics of North America
Zahraa Rahal, Farah Abdulhai, Humam Kadara, Raya Saab
Different types of cancers exhibit disparate spectra of genomic alterations (germline and/or somatic). These alterations can include single nucleotide variants (SNVs), copy number alterations (CNAs) or structural changes (e.g. gene fusions and chromosomal rearrangements). Identification of those genomic alterations has provided the opportune element to derive new strategies for molecular-based precision medicine of adult and pediatric cancers including risk assessment, non-invasive detection, molecular diagnosis and personalized therapy...
2018: American Journal of Cancer Research
Lucia A Hindorff, Vence L Bonham, Lucila Ohno-Machado
Advances in genomic medicine are arising from efforts to build a national learning healthcare system (LHS) and large-scale precision medicine studies. However, the underlying evidence base lacks sufficient data from populations historically underrepresented in biomedical research. Although the literature on health and healthcare disparities is extensive, disparities in the availability and quality of health information about diverse and underrepresented populations are less well characterized. This Perspective describes scientific and ethical benefits to incorporating health information from diverse and underrepresented populations in the LHS, resulting in a more robust and generalizable LHS...
September 13, 2018: Personalized Medicine
Marc D Ruben, Gang Wu, David F Smith, Robert E Schmidt, Lauren J Francey, Yin Yeng Lee, Ron C Anafi, John B Hogenesch
The discovery that half of the mammalian protein-coding genome is regulated by the circadian clock has clear implications for medicine. Recent studies demonstrated that the circadian clock influences therapeutic outcomes in human heart disease and cancer. However, biological time is rarely given clinical consideration. A key barrier is the absence of information on tissue-specific molecular rhythms in the human body. We have applied the cyclic ordering by periodic structure (CYCLOPS) algorithm, designed to reconstruct sample temporal order in the absence of time-of-day information, to the gene expression collection of 13 tissues from 632 human donors...
September 12, 2018: Science Translational Medicine
P Mark Bartold
Personalized medicine is a medical model that involves the tailoring of healthcare - with medical decisions, practices, and/or products being customized to an individual patient. In this model, diagnostic testing is often employed for selecting appropriate and optimal therapies based on the context of a patient's genetic content or other epidemiologic, sociologic, molecular, physiologic, or cellular analyses. With the advent of major advances in periodontal medicine, including genomic discoveries and greater understanding of the multifactorial nature of periodontitis, it seems that the time is ripe to use personalized medicine as a model for personalized periodontics...
October 2018: Periodontology 2000
Si-Mei He, Xiao Wang, Sheng-Chao Yang, Yang Dong, Qi-Ming Zhao, Jian-Li Yang, Kun Cong, Jia-Jin Zhang, Guang-Hui Zhang, Ying Wang, Wei Fan
Plant-derived terpenes are effective in treating chronic dysentery, rheumatism, hepatitis, and hyperlipemia. Thus, understanding the molecular basis of terpene biosynthesis in some terpene-abundant Chinese medicinal plants is of great importance. Abundant in mono- and sesqui-terpenes, Rhodomyrtus tomentosa (Ait.) Hassk, an evergreen shrub belonging to the family Myrtaceae, is widely used as a traditional Chinese medicine. In this study, (+)-α-pinene and β-caryophyllene were detected to be the two major components in the leaves of R...
2018: Frontiers in Plant Science
Felicity K Boardman, Rachel Hale
BACKGROUND: Genomic medicine is rapidly evolving, particularly in the domain of reproduction. Population carrier screening for a range of disorders is becoming possible using whole genome/exome sequencing. However, very little is known about the views of genetically disabled adults toward selective reproduction. METHODS: Forty-three in-depth qualitative interviews were carried out with adults living with different types of genetic condition, recruited through support groups and clinics...
September 9, 2018: Molecular Genetics & Genomic Medicine
Jean-Yves Madec, Marisa Haenni
Antimicrobial resistance (AMR) plasmids have been recognized as important vectors for efficient spread of AMR phenotypes. The food reservoir includes both food-producing animals and food products, and a huge diversity of AMR plasmids have been reported in this sector. Based on molecular typing methods and/or whole genome sequencing approaches, certain AMR genes/plasmids combinations were found more frequently in food compared to other settings. However, the food source of a definite AMR plasmid is highly complex to confirm due to cross-sectorial transfers and international spread of AMR plasmids...
September 6, 2018: Plasmid
Michele C Gornick, Kerry A Ryan, Aaron M Scherer, J Scott Roberts, Raymond G De Vries, Wendy R Uhlmann
In genomic medicine, the familiarity and inexactness of the term "actionable" can lead to multiple interpretations and mistaken beliefs about realistic treatment options. As part of a larger study focusing on public attitudes toward policies for the return of secondary genomic results, we looked at how members of the lay public interpret the term "medically actionable" in the context of genetic testing. We also surveyed a convenience sample of oncologists as part of a separate study and asked them to define the term "medically actionable...
September 7, 2018: Journal of Genetic Counseling
Junyang Yue, Chuanxue Zhu, Yu Zhou, Xiangli Niu, Min Miao, Xiaofeng Tang, Fadi Chen, Weiping Zhao, Yongsheng Liu
Chrysanthemum morifolium is an ornamentally and medicinally important plant species. Up to date, molecular and genetic investigations have largely focused on determination of flowering time in the ornamental species. However, little is known about gene regulatory networks for the biosynthesis of flavonoids in the medicinal species. In the current study, we employed the high-throughput sequencing technology to profile the genome-wide transcriptome of C. morifolium 'Chuju', a famous medicinal species in traditional Chinese medicine...
September 7, 2018: Scientific Reports
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