Advisory Board and Editors Medical Genetics

Journal Factsheet
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I told my colleagues that PeerJ is a journal where they need to publish if they want their paper to be published quickly and with the strict peer review expected from a good journal.
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Luisa Azevedo

Researcher at the Population Genetics and Evolution group at i3S and invited assistant professor at the Faculty of Sciences of the University of Porto. Scientific topics include molecular basis of phenotype-genotype relationships, mechanisms underlying epistatic interactions under the compensatory mutation model, and the dynamics involved in the amino acid substitution at the protein structural level.

Debmalya Barh

I have worked 15+ years in various industries (molecular diagnostics, healthcare, personal genomics, bioinformatics) and along with that I have continued my academic researches for last 15+ years. My field of research includes human disease genetics and genomics; biomarker and molecular diagnostics, targets and drug discovery; precision medicine, and bioinformatics. In various industries, I have extensively worked in developing genetic tests for various human diseases and traits, geotype-phenotype correlations, bioinformatics tools and database design and several personal genomics and bioinformatics product development. I have published 140+ articles, 35+ book chapters, 25 books, several complete bacterial genomes and bio-software.

Anaïs Baudot

I'm a Systems Biologist with a background in Biology, Genetics and Bioinformatics. I hold a PhD from the Aix-Marseille University. After a Post-Doc in the CNIO (Madrid, Spain), I got a CNRS Researcher position in 2010. I've working since then in the Marseille Institute of Mathematics (CNRS-AMU). I'm interested in -omics studies (interactomes), Networks (partitioning, boolean modelling), and questions related to human diseases, in particular complex diseases, cancers and comorbidities.

Joanne Berghout

Dr. Berghout received her PhD in Biochemistry from McGill University in Montreal, QC where she researched the genetics of complex traits and susceptibility to infectious disease in humans and mouse models. Following that, she spent three years as the Outreach Coordinator for the Mouse Genome Informatics (MGI) database in Bar Harbor, ME. There, she trained researchers in genetics, genomics, data structures and data mining to answer biological questions, and worked closely with other members of the MGI group to develop and optimize the MGI resource. Now her research interests include genetics of all kinds, personalized medicine, big data, and scientific communication. She is currently pursuing projects in precision medicine for analysis of transcriptome data from patients with rare lung diseases (Sarcoidosis, Coccidiomycosis), and integrative network analysis of complex traits including Alzheimer's Disease. She is currently appointed at the University of Arizona's Center for Biomedical Informatics and Biostatistics (CB2) and The Center for Genetics and Genomic Medicine (TCG2M) in Tucson, AZ.

Glen M Borchert

Dr. Glen Borchert holds joint appointments as an Assistant Professor in Biology and Pharmacology at the University of South Alabama. He originally received a B.S. in Biology from the University of Tennessee then completed a Ph.D. in Genetics from the University of Iowa. Dr. Borchert’s research focuses largely on identifying novel genetic regulators and defining their roles in oncogenesis, microbiology and speciation. Since starting his laboratory at South Alabama in August 2012, Dr. Borchert has published dozens of papers in peer reviewed journals and had numerous grant applications funded including a highly prestigious NSF CAREER award (2014-2019).

Dawn E Bowles

Dr. Dawn Elizabeth Bowles, PhD is Assistant Professor in Surgery within the Division of Surgical Sciences at Duke University School of Medicine. She obtained her Ph.D. in Microbiology from Louisiana State University.

Mario R. Capecchi

Professor of Human Genetics at the University of Utah School of Medicine;
Distinguished Professor of Human Genetics and Biology;
Nobel Prize in Physiology or Medicine 2007;
Member of the National Academy of Sciences & the European Academy of Sciences.
Recipient of many awards including the Kyoto Prize in Basic Sciences; the Albert Lasker Award for Basic Medical Research; the National Medal of Science; the Wolf Prize in Medicine; the March of Dimes Prize in Developmental Biology; and the Nobel Prize in Physiology and Medicine with Smithies and Evans.

Ruben J. Cauchi

Ruben J. Cauchi is an Associate Professor of Neurogenetics at the University of Malta School of Medicine. He obtained his D.Phil. from the University of Oxford (UK) and did his postdoctoral research at the MRC Laboratory of Molecular Biology, University of Cambridge (UK). Prof. Cauchi heads the ALS/MND Lab at the University of Malta and leads Malta’s National ALS/MND Registry & BioBank, aiming at understanding the cause of motor neuron disease (MND) including amyotrophic lateral sclerosis (ALS) and identify innovative treatments.

Christopher Cooper

Senior Lecturer in Biological Sciences at the University of Huddersfield, since 2015. Previously Junior Research Fellow, College Lecturer In Biochemistry and various postdocs at the University of Oxford (2013-15). Working on DNA replication, genome integrity and transcription factors in human cancers (and also in prokaryotes). Additional interests in phylogenomics and novel protein expression systems.

Elaine A Dunlop

Dr. Elaine Dunlop is a Lecturer in the Division of Cancer and Genetics at Cardiff University. She received her PhD in Cancer Research from Queen's University, Belfast and her research now centres on the inherited genetic conditions, Tuberous Sclerosis Complex and Birt-Hogg-Dubé syndrome where patients are predisposed to develop cysts and tumours. She is interested in the crossover between the cell signalling observed in these genetic diseases and the pathways which are at fault in cancer, with a focus on mTORC1 growth pathways, autophagy and the tumour microenvironment.

D. Gareth Evans

Prof Evans has established a national and international reputation in clinical and research aspects of cancer genetics, particularly in neurofibromatosis and breast cancer. He has developed a clinical service for cancer genetics in the North West Region of England. He is an important opinion leader nationally through membership of committees and was chairman of the NICE Familial Breast Cancer Guideline Development Group (2002-2010) is now clinical lead (2011-). He lectures on hereditary breast cancer and cancer syndromes. He developed a national training program for clinicians, nurses & genetic counsellors in breast cancer genetics and established a system for risk assessment and counselling for breast cancer in Calman breast units implemented through a training course (1998-2011)

He has published 854 peer reviewed research publications; 302 as first or senior author. In addition he has published over 150 reviews and chapters and has had a book published by Oxford University Press on familial cancer. In the last 5 years he has raised over £35 million in grants for multicentre and local studies – approximately £31 million to Manchester. He is Chief Investigator on two (£1.59 & £1 million) NIHR program grant (2009-2014 and 2016-2020) on breast cancer risk prediction and also has an NIHR RfPB grant as CI (2011). He has led a successful bid for a Nationally funded NF2 service (£7.5 million pa) that started in 2010 and is involved in the national complex NF1 service

Ramcés Falfán-Valencia

Dr. Ramcés Falfán-Valencia is a Researcher in Medical Sciences at the HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas at Mexico City, Mexico. His research focuses on Biomedical Sciences, Physical Anthropology, and Genetics. Dr. Falfán-Valencia's main interests include Genomics in COPD and Interstitial Lung Diseases.