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Special Issue "The Legacy of the Nobel Prize for Medicine Awardee Renato Dulbecco 10 Years Later: The Post-Genomic Era"

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A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Genetics and Molecular Medicine".

Deadline for manuscript submissions: closed (10 October 2022) | Viewed by 7938

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Special Issue Editors

Prof. Dr. Ludovico Abenavoli

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Department of Health Sciences, University “Magna Græcia”, Campus Germaneto, I-88100 Catanzaro, Italy
Interests: nonalcoholic fatty liver disease; alcoholic liver disease; gut microbiota; Mediterranean diet; nutrition; COVID-19; probiotic
Special Issues, Collections and Topics in MDPI journals

Dr. Luigi Boccuto

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Guest Editor

School of Nursing, Healthcare Genetics Program, Clemson University, Clemson, SC 29646, USA
Interests: autism spectrum disorder; Phelan-McDermid syndrome; cancer; overgrowth; liver disease; gut microbiota; COVID-19

Special Issue Information

Dear Colleagues,

Nobel Prize Awardee Renato Dulbecco has been a pioneer of the investigation of the genetic mechanisms underlying cancer and other complex disorders and is one of the major promoters of the Human Genome Project. Ten years after his departure, his legacy still inspires generations of physicians and researchers in the critical journey toward the post-genomic era. Dulbecco has been a highly influential figure in the field of genetic research and the world scientific community.

The aim of the Special Issue is to highlight the role of Dulbecco in trailblazing the path to genomic medicine: from his contributions to cancer research to the lessons of the Human Genome Project. It will include considerations on how the sequencing of our genome has changed science and opened the door to translational science and precision medicine.

Cutting-edge research includes the following: translational research from genetics to genomics and other omics (epigenomics, transcriptomics, proteomics, metabolomics, and microbiomics); next-generation sequencing and direct-to-consumer genetic tests; new awareness of the interaction between genome and environment; ethical challenges of the post-genomic era; focus on how genetic knowledge has changed the approach to the investigation of complex disorders.

We are soliciting research papers, short reports, reviews, systematic reviews, meta-analyses, letters to the Editor, and commentary papers.

Dr. Ludovico Abenavoli
Dr. Luigi Boccuto
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

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. Medicina is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

Human Genome Project
omics
translational medicine
post-genomic
precision medicine
clinical practice

Published Papers (5 papers)

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Editorial

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Open AccessEditorial

The Legacy of Renato Dulbecco in the Post-Genomic Era

Ludovico Abenavoli

and

Luigi Boccuto

Medicina 2022, 58(8), 974; https://doi.org/10.3390/medicina58080974 - 22 Jul 2022

Cited by 1 | Viewed by 946

Abstract

The true measure of a visionary is marked by their ability to perceive and anticipate future developments in their field [...] Full article

(This article belongs to the Special Issue The Legacy of the Nobel Prize for Medicine Awardee Renato Dulbecco 10 Years Later: The Post-Genomic Era)

Research

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Open AccessArticle

Combination of Hyperbaric Oxygen Therapy and Oral Steroids for the Treatment of Sudden Sensorineural Hearing Loss: Early or Late?

Matteo Cavaliere

Pietro De Luca

Alfonso Scarpa

Adriano Maciej Strzalkowski

and

Medicina 2022, 58(10), 1421; https://doi.org/10.3390/medicina58101421 - 10 Oct 2022

Cited by 1 | Viewed by 1804

Abstract

Background and Objectives: Several treatments are available for sudden sensorineural hearing loss (SSNHL), but no studies have compared the different treatments based on the delay from the onset of the disease. Our study aims to compare the effect of hyperbaric oxygen therapy (HBOT), oral steroids (OS) and combination of both therapies (HBOT + OS) for treating SSNHL. Materials and Methods: This randomized study analyzed 171 patients with SSNHL. Patients were evaluated by pure tone audiometry test (PTA) at baseline (T0) and 20 days after treatment (T1). Three groups were available HBOT-A-, OS-B- and HBOT + OS-C-. After baseline PTA, patients were randomly assigned to each group. Statistical analysis was performed by one-way ANOVA and Chi-square. Results: Patients in the HBOT + OS and HBOT groups improved their auditory function (p < 0.05). HBOT was the best choice for treatment when started by 7 days from SSNHL onset, while HBOT + OS in case of late treatment. Profound SNHL recovered equally by HBOT and HBOT + OS (p < 0.05). Upsloping SNHL obtained better auditory results by HBOT compared to HBOT + OS (p < 0.05). Downsloping and flat SSNHL had the most improvement with HBOT + OS compared to HBOT only (p < 0.05). Conclusions: Combination of HBOT and OS is a valid treatment for SSNHL both in case of early and late treatment. Combination of HBOT and OS was the choice with the best results in case of treatment started >14 days from symptom onset. Full article

(This article belongs to the Special Issue The Legacy of the Nobel Prize for Medicine Awardee Renato Dulbecco 10 Years Later: The Post-Genomic Era)

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Review

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Open AccessReview

How Genetics and Genomics Advances Are Rewriting Pediatric Cancer Research and Clinical Care

and

Medicina 2022, 58(10), 1386; https://doi.org/10.3390/medicina58101386 - 02 Oct 2022

Viewed by 1759

Abstract

In the last two decades, thanks to the data that have been obtained from the Human Genome Project and the development of next-generation sequencing (NGS) technologies, research in oncology has produced extremely important results in understanding the genomic landscape of pediatric cancers, which are the main cause of death during childhood. NGS has provided significant advances in medicine by detecting germline and somatic driver variants that determine the development and progression of many types of cancers, allowing a distinction between hereditary and non-hereditary cancers, characterizing resistance mechanisms that are also related to alterations of the epigenetic apparatus, and quantifying the mutational burden of tumor cells. A combined approach of next-generation technologies allows us to investigate the numerous molecular features of the cancer cell and the effects of the environment on it, discovering and following the path of personalized therapy to defeat an “ancient” disease that has had victories and defeats. In this paper, we provide an overview of the results that have been obtained in the last decade from genomic studies that were carried out on pediatric cancer and their contribution to the more accurate and faster diagnosis in the stratification of patients and the development of new precision therapies. Full article

(This article belongs to the Special Issue The Legacy of the Nobel Prize for Medicine Awardee Renato Dulbecco 10 Years Later: The Post-Genomic Era)

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Open AccessCommentary

Race: How the Post-Genomic Era Has Unmasked a Misconception Promoted by Healthcare

Donna Schaare

Ludovico Abenavoli

and

Luigi Boccuto

Medicina 2023, 59(5), 861; https://doi.org/10.3390/medicina59050861 - 28 Apr 2023

Viewed by 597

Abstract

The term “race” has been employed to categorize human beings into distinct groups based on some perceived biological distinctions. This concept was debunked with the completion of the Human Genome Project and its revolutionary findings that all humans are >99% genetically identical, subsequently making the term “race” obsolete. Unfortunately, the previous misconception is being propagated by the continued use of the term to capture demographic information in healthcare in an attempt to improve equity. This paper seeks to review the history of the term “race”, analyze the current policy, and discuss its limitations. It is important to note that our analysis was exclusively focused on the United States healthcare system and the Affordable Care Act; as such, it may not reflect other regions’ policies, including those in Africa, Asia, and the Middle East. However, we feel that this policy analysis may serve as a model to recommend alterations that mirror the post-genomic era. The need for this policy change was recently highlighted in the 2022 ASHG presidential address, One Human Race: Billions of Genomes, and will reflect the knowledge gleaned by the scientific community through the conclusions of the Human Genome Project. Full article

(This article belongs to the Special Issue The Legacy of the Nobel Prize for Medicine Awardee Renato Dulbecco 10 Years Later: The Post-Genomic Era)

Open AccessBrief Report

BRCA1/2 Reversion Mutations in Patients Treated with Poly ADP-Ribose Polymerase (PARP) Inhibitors or Platinum Agents

Emmanuel S. Antonarakis

and

Medicina 2022, 58(12), 1818; https://doi.org/10.3390/medicina58121818 - 10 Dec 2022

Cited by 2 | Viewed by 1926

Abstract

Background: Reversion mutations in BRCA1/2, resulting in restoration of the open reading frame, have been identified as a mechanism of resistance to platinum-based chemotherapy or PARP inhibition. We sought to explore the incidence of BRCA1/2 reversion mutations in different tumor types. Methods: We retrospectively analyzed molecular profiling results from primary and/or metastatic tumor samples submitted by multiple institutions. The samples underwent DNA and RNA sequencing at a CLIA/CAP-certified clinical lab. Reversion mutations were called only in patients whose available clinical records showed the use of PARP inhibitors or platinum agents prior to tumor profiling. Results: Reversion mutations were identified in 75 of 247,926 samples profiled across all tumor types. Among patients carrying pathogenic or likely pathogenic BRCA1/2 mutations, reversion mutations in BRCA1/2 genes were seen in ovarian cancer (OC) (30/3424), breast cancer (BC) (27/1460), endometrial cancer (4/564), pancreatic cancer (2/340), cholangiocarcinoma (2/178), prostate cancer (5/461), cervical cancer (1/117), cancer of unknown primary (1/244), bladder cancer (1/300), malignant pleural mesothelioma (1/10), and a neuroendocrine tumor of the prostate. We identified 22 reversion mutations in BRCA1 and 8 in BRCA2 in OC. In BC, we detected 6 reversion mutations in BRCA1 and 21 in BRCA2. We compared molecular profile results of 14 high-grade serous ovarian cancers (HGSOC) with reversion mutations against 87 control HGSOC with pathogenic BRCA1/2 mutations without reversion mutations. Tumors with reversion mutations trended to have had lower ER expression (25% vs. 64%, p = 0.024, q = 0.82) and higher KDM6A mutation rate (15% vs. 0, p = 0.016, q = 0.82). Conclusions: We present one of the largest datasets reporting reversion mutations in BRCA1/2 genes across various tumor types. These reversion mutations were rare; this may be because some patients may not have had repeat profiling post-treatment. Repeat tumor profiling at times of treatment resistance can help inform therapy selection in the refractory disease setting. Full article

(This article belongs to the Special Issue The Legacy of the Nobel Prize for Medicine Awardee Renato Dulbecco 10 Years Later: The Post-Genomic Era)

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