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Gender Medicine: Pharmacogenetics and Personalised Medicine 2.0

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (31 October 2022) | Viewed by 4654

Special Issue Editors


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Guest Editor
Associate Professor in Medical Genetics, Section of Medical Biochemistry, Molecular Biology & Genetics, Dpt. of Biomedical and Specialty Surgical Sciences, University of Ferrara, I-44100 Ferrara, Italy
Interests: pharmacogenetics/genomics, precision medicine and gender medicine in inherited thrombophilia and cardiovascular disease; coagulation and inherited bleeding disorders; SNPs in iron homeostasis and folate pathways; genetics of wound healing; childhood haematological malignancies
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Guest Editor
Department of Morphology, Surgery & Experimental Medicine and LTTA Centre, University of Ferrara, 44121 Ferrara, Italy
Interests: translational research; gender medicine; regenerative medicine; personalized and precision medicine; focus on inflammation and biomarkers in cardiovascular and complex diseases; aging; neurodegenerative/cognitive impairment diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In the era of individualized and precision medicine, where pharmacogenetics and genomics have key roles, Gender Medicine should be considered an essential step for Personalised Medicine. Patient-centered care defines the third millennium health-care goal. The role of both sex and gender in physiological and pathophysiological processes of diseases is becoming crucial in terms of efficient prevention, clinical signs identification, prognosis, therapies optimisation, as well as in terms of social-psychological and cost-effective impact. Accordingly, viewing patients through a sex and gender lens is a novel and promising approach. Personalized healthcare must be based on evidence derived from targeted research studies aimed at understanding how different sex and hormonal status influence health across the life-span. To understand the genetic, molecular and biochemical bases of the existing “gap” among patients will pave the way to discovering and identifying novel drug-targets and designing new therapeutic protocols together with personalized laboratory tests. A modern project to successfully integrate gender and sex differences and precision medicine should include gender and sex specific oriented researches.

In this Special Issue, we focus on how gender-oriented precision medicine can be translated from bench to bedside. We welcome original papers and review articles that focus on the latest advances on the molecular research of gender medicine. Gender medicine in different disciplines including cardiology, endocrinology, pharmacology, oncology, dermatology, infection disease, geriatrics and aging, gastroenterology, and neurology are welcome.

Prof. Dr. Donato Gemmati
Prof. Dr. Veronica Tisato
Guest Editors

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

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Keywords

  • Sex and Gender
  • Genetics, genomics, and epigenetic studies
  • Proteomic profiling
  • “RNAs” profiles to predict prognosis and outcome
  • Biochemistry and molecular biology
  • Sex-specific disease biomarkers
  • Methylation profiles to predict prognosis and outcome
  • Drug response and resistance
  • Regenerative medicine
  • Hormone profiles and inflammation
  • Complex/multifactorial diseases

Published Papers (2 papers)

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Research

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16 pages, 962 KiB  
Article
Genetic Variants of ANGPT1, CD39, FGF2 and MMP9 Linked to Clinical Outcome of Bevacizumab Plus Chemotherapy for Metastatic Colorectal Cancer
by María Gaibar, Miguel Galán, Alicia Romero-Lorca, Beatriz Antón, Diego Malón, Amalia Moreno, Ana Fernández-Santander and Apolonia Novillo
Int. J. Mol. Sci. 2021, 22(3), 1381; https://doi.org/10.3390/ijms22031381 - 30 Jan 2021
Cited by 4 | Viewed by 1902
Abstract
Angiogenesis pathway genes show substantial genetic variability causing inter-individual differences in responses to anti-angiogenic drugs. We examined 20 single nucleotide polymorphisms (SNPs) in 13 of these genes to predict tumour response and clinical outcome measured as progression free survival (PFS) and overall survival [...] Read more.
Angiogenesis pathway genes show substantial genetic variability causing inter-individual differences in responses to anti-angiogenic drugs. We examined 20 single nucleotide polymorphisms (SNPs) in 13 of these genes to predict tumour response and clinical outcome measured as progression free survival (PFS) and overall survival (OS) in 57 patients with metastatic colorectal cancer (mCRC) given bevacizumab plus chemotherapy. SNPs were detected (iPLEX® Assay) in genomic DNA extracted from formalin-fixed paraffin-embedded tumour specimens. The variant allele CD39 rs11188513 was associated with a good tumour response (p = 0.024). Patients homozygous for the wild-type allele FGF2 rs1960669 showed a median PFS of 10.95 months versus 5.44 months for those with at least one variant allele-A (HR 3.30; 95% CI: 1.52–7.14; p = 0.001). Patients homozygous for wild-type MMP9 rs2236416 and rs2274755 showed a median PFS of 9.48 months versus 6 and 6.62 months, respectively, for those with at least one variant allele (p = 0.022, p = 0.043, respectively). OS was also lengthened to 30.92 months (p = 0.034) in carriers of wild-type ANGPT1 rs2445365 versus 22.07 months for those carrying at least one variant allele-A. These gene variants were able to predict clinical outcome and tumour response in mCRC patients given bevacizumab-based therapy. Full article
(This article belongs to the Special Issue Gender Medicine: Pharmacogenetics and Personalised Medicine 2.0)
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28 pages, 5960 KiB  
Review
Facilitation of Ovarian Response by Mechanical Force—Latest Insight on Fertility Improvement in Women with Poor Ovarian Response or Primary Ovarian Insufficiency
by Chia Lin Chang
Int. J. Mol. Sci. 2023, 24(19), 14751; https://doi.org/10.3390/ijms241914751 - 29 Sep 2023
Cited by 1 | Viewed by 1710
Abstract
The decline in fertility in aging women, especially those with poor ovarian response (POR) or primary ovarian insufficiency (POI), is a major concern for modern IVF centers. Fertility treatments have traditionally relied on gonadotropin- and steroid-hormone-based IVF practices, but these methods have limitations, [...] Read more.
The decline in fertility in aging women, especially those with poor ovarian response (POR) or primary ovarian insufficiency (POI), is a major concern for modern IVF centers. Fertility treatments have traditionally relied on gonadotropin- and steroid-hormone-based IVF practices, but these methods have limitations, especially for women with aging ovaries. Researchers have been motivated to explore alternative approaches. Ovarian aging is a complicated process, and the deterioration of oocytes, follicular cells, the extracellular matrix (ECM), and the stromal compartment can all contribute to declining fertility. Adjunct interventions that involve the use of hormones, steroids, and cofactors and gamete engineering are two major research areas aimed to improve fertility in aging women. Additionally, mechanical procedures including the In Vitro Activation (IVA) procedure, which combines pharmacological activators and fragmentation of ovarian strips, and the Whole Ovary Laparoscopic Incision (WOLI) procedure that solely relies on mechanical manipulation in vivo have shown promising results in improving follicle growth and fertility in women with POR and POI. Advances in the use of mechanical procedures have brought exciting opportunities to improve fertility outcomes in aging women with POR or POI. While the lack of a comprehensive understanding of the molecular mechanisms that lead to fertility decline in aging women remains a major challenge for further improvement of mechanical-manipulation-based approaches, recent progress has provided a better view of how these procedures promote folliculogenesis in the fibrotic and avascular aging ovaries. In this review, we first provide a brief overview of the potential mechanisms that contribute to ovarian aging in POI and POR patients, followed by a discussion of measures that aim to improve ovarian folliculogenesis in aging women. At last, we discuss the likely mechanisms that contribute to the outcomes of IVA and WOLI procedures and potential future directions. Full article
(This article belongs to the Special Issue Gender Medicine: Pharmacogenetics and Personalised Medicine 2.0)
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