OBM Genetics is an international Open Access journal published quarterly online by LIDSEN Publishing Inc. It accepts papers addressing basic and medical aspects of genetics and epigenetics and also ethical, legal and social issues. Coverage includes clinical, developmental, diagnostic, evolutionary, genomic, mitochondrial, molecular, oncological, population and reproductive aspects. It publishes research articles, reviews, communications and technical notes, etc. There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.
Archiving: full-text archived in CLOCKSS.
Rapid publication: manuscripts are undertaken in 15.0 days from acceptance to publication (median values for papers published in this journal in the second half of 2021, 1-2 days of FREE language polishing time is also included in this period).
Rare Genetic Syndromes: From Diagnosis to Treatment
Submission Deadline: September 30, 2023 (Open) Submit Now
Fabrizio Stasolla, PhD, Professor
"Giustino Fortunato" University of Benevento, Benevento, Italy
Research interests: autism spectrum disorders; Cerebral Palsy; Rare genetic syndromes (e.g. Angelman, Rett, Cornelia de Lange, fragile X); cognitive-behavioral interventions; Post-coma; Alzeimer; Parkinson; sclerosis neurodegenerative diseases; single-subject experimental designs
About This Topic
Children, adolescents, and young adults with rare genetic syndromes (e.g., Angelman, Down, Cornelia de Lange, Fragile X, Rett, and Williams syndromes) may experience significant problems while dealing with everyday life requests. Beside intellectual disabilities, communication disorders, motor impairments, and/or sensorial deficits may be included. An early diagnosis can be considered critical. Rehabilitative programs can be addressed accordingly.
This special issue will consider any type of paper (e.g., systematic reviews, scoping reviews, meta-analysis, empirical studies, randomized controlled trials, between groups comparisons, single-subject experimental studies, case-reports, and/or protocol studies) having individuals diagnosed with a rare genetic syndrome with both assessment and rehabilitative purposes as a basic target. Although technology-based interventions are privileged (i.e., assistive technology, new technologies as augmented and/or virtual reality setups, artificial intelligence settings, serious games, mobile and/or wearable technologies, telerehabilitation), any approaches (e.g., pharmacological or non-pharmacological, with behavioral and/or cognitive-behavioral therapies) are sought.
As a result of the significant disruption that is being caused by the COVID-19 pandemic, we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times. Please do let us know if you need additional time. Our editor office will continue to remind you of the original timelines but we intend to be highly flexible at this time.
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Vidhi is a Clinical yoga therapist; mentor for yoga therapy training in Krishnamacharya tradition. She holds a MSc in Public health from Kings College London.
She is Complementary and Natural Health Council Profession Specific Board member for Yoga Therapy and Yoga Researcher in the NHS. She has authored articles in yoga and patient group magazines. She supported Central Middlesex Hospital (CMH) rheumatology patient group with patient driven audits and held first in UK pilot study of Yoga Therapy. She has published articles in complementary therapies in medicine and also abstracts in EULAR, Innovations in Medicine Conference for Royal College of Physicians and International Congress on Integrative Medicine and Health, Baltimore. She also completed her internship with London School of Hygiene and Topical medicine conducting a systematic review of behavioral interventions for chronic conditions in low and middle-income countries.
She is also on the mind-body medicine sub-committee supported by the Royal College of Medicine (RSM).
She teaches modular introductory course at Imperial College School of Medicine curriculum to their year medical students and was awarded Inspiration award 2017 (Runners Up). She delivers yoga therapy for the management of addiction in Rehab Clinics such as Promis Clinic as well as other trauma related physical and mental issues. She has collaborated with consultants and General Physicians around West London to deliver Yoga Therapy as a complementary healing modality.
|Address:||8 Allard place, Ingleburn, NSW 2565|
Academic degrees and titles according to the USSR all-union qualification system
Candidate of Technical Sciences (PhD) in the speciality of “Electrical Engineering”.
Doctor of Biological Sciences in the specialities of “Human and animal physiology” and “Biophysics”.
Senior Research Fellow in the speciality of “Biological and Medical Cybernetics”.
Professor in the speciality of “Control in Biological and Medical Systems (Including the Application of Computer Technology)”.
Fields of interest: Analysis and modeling of biological signals including EEG, ERP, ECG, VEP and EMG. Quantitative methods of psychophysiological research.
Grant RYR000 from the International Science Foundation for the project: “The Coding Role of Facilitatory Synapses” (1994)
Linkage Grant HTECH.LG 930981 on the Priority Area on High Technology from the NATO scientific and environmental affairs division for the project “Simulation of Epileptogenesis via Computer Reconstructions of Neuronal Processes”, in collaboration with professor G. Kostopoulos (University of Patras, Greece). 1993-1995.
Publications: More than 90 scientific papers, and a monograph “Transients in Neuronal Systems”, Publ. House of Armenian Academy of Sciences, Yerevan, 1987.
Mirela Olympia Fagarasan Palmer
Anaheim, CA 92815
Phone: (619) 204-3342
E-Mail: email@example.com, firstname.lastname@example.org
I work in academia as an internationally recognized neuropharmacology and neuroimmunology researcher. I published more than 500 scientific reports in the field of neuropsychopharmacology and signal transduction . I am leading a laboratory interested in understanding the fundamental neurobiological mechanisms of neuropsychiatric disorders to contribute at development of new pharmacological treatments. We use genetic, neuroendocrine and neurochemical methods. We recognize the role of the immune system in modulating neuropsychiatric diseases and we are developing in vitro cellular models and in vivo animal models to study the neuro-immune interactions under normal and disease states I has successfully combined research, teaching, administration and clinical care and continue to work on advancing our understanding of serious mental illness and drug development. We used to translate research findings into medical practice for the purposes of diagnosing, preventing and treating diseases. I has published scientific reports on peptides, their receptors, signal transduction and the role of these neuropeptides in the immune systems. I hold patents for using modified peptides in the treatment of septic shock. I have skills and expertise in receptor pharmacology, immunohistochemistry, in vivo and in vitro cell culture, biochemistry, animal models, cell and molecular biology. I has lectured worldwide on these subjects and the others. I have 19 years of research experience with development and use of in vitro models to test compounds, such as receptor binding, receptor activation, signal transduction, receptor-receptor interactions, and induction of changes in cell cycle, proliferation and apoptosis. Furthermore I validated appropriate assays and models of diseases, screen compounds, and study mechanisms of action.
Ph.D. in Neuroendocrinology
|Professor of Neuropharmacology:||University of South California, Los Angeles P September 1996- present|
|Senior Scientist:||Mount Sinai School of Medicine, New York September 1994 –September 1996|
|Senior Scientist:||George Washington University, Washington D.C. and Peptide Technologies, Maryland September 1992-September 1994|
|Visiting Scientist:||National Institute of Mental Health and Peptide Design, Bethesda, MD September 1987-September 1992|
DProf. DProf. Prof. Prof. Prof. Miklas Scholz, cand ing, BEng (equiv), PgC, MSc, PhD, DSc, CWEM, CEnv, CSci, CEng, FHEA, FIEMA, FCIWEM, FICE, Fellow of IWA, Fellow of IETI, has published four books and 267 journal articles. Prof. Scholz has total citations of over 9280 (above 5610 citations since 2016), resulting in an h-index of 48 and an i10-Index of 178. A bibliometric analysis of all constructed wetland-related publications and corresponding authors with a minimum number of 20 publications and 100 citations indicates that Miklas is on place 5 in the world of about 70 authors (including those who have sadly passed away). In 2019, Prof. Scholz was awarded EURO 7M for the EU H2020 REA project Water Retention and Nutrient Recycling in Soils and Streams for Improved Agricultural Production (WATERAGRI). He received EURO 1.52M for the JPI Water 2018 project Research-based Assessment of Integrated approaches to Nature-based SOLUTIONS (RAINSOLUTIONS).
I was trained in General Surgery in Genoa (Italy). I spent one year at the University of Massachusetts as a research fellow (Division of Organ Transplantation) and was trained in an ASTS accredited multiorgan and hepatobiliary surgery fellowship at Mount Sinai Hospital in New York City (2007-2009). Since 2009 I worked at the Division of Hepatic Surgery and Liver Transplantation at the University of Pisa, the largest liver transplant program in the country and one of the largest in Europe.
I dedicated most of my career to transplantation and pioneered the use of very old donors in liver transplantation (reporting the first series of liver transplants using nonagenarian grafts), ex-situ machine perfusion and DCD donors.
I research interest are the proper selection of extended criteria grafts, DCD, the identification of markers of organ viability during normothermic regional and machine perfusion and organ therapeutics. In the last year I focused my interest in organ therapeutics reporting the first use of nanotechnology in discarded human grafts during ex-situ normothermic machine perfusion to minimize ischemia reperfusion injury.
I became expert in quality management systems, accreditation and performance evaluation in healthcare.
Dr. Alharbi joined Fakeeh Care Group in 2020. He was previously the Head of the Specialized Surgery Department at King Abdullah Medical City, and the Leading Consultant and Deputy Chairman of Plastic and Reconstructive Surgery and Burn Unit at RWTH Aachen University Hospital and Medical College in Germany, one of the largest science and technology universities in Germany and one of the most renowned university hospitals in Europe.
His education and qualifications include German and European Board (Plastic, Reconstructive and Aesthetic Surgery); German Clinical Fellowship in Hand and Microsurgery; Academic Doctorate in Regenerative Research from RWTH Aachen University; Executive Master Degree in Hospitals and Health Services Administrations from King Abdul-Aziz University and Medical Bachelor and Bachelor of Surgery from King Abdul-Aziz University. Dr. AlHarbi also holds Accreditation Degree Certificate from the Foundation for the Advancement of International Medical Education and Research, USA.
Dr. Alharbi is a member in several national and international boards, councils, and committees. He is the Chairperson for the Annual Plastic, Reconstructive and Regenerative Meeting in Jeddah, Saudi Arabia and the National Delegate of the International Society of Plastic and Regenerative Surgeons in Saudi Arabia. He is also a member in the American Burn Association and the German Association of Hand Surgery. Dr. AlHarbi also holds a Membership in the European Wound Care Association and the International Federation for Adipose Science and Therapy. Dr. AlHarbi is the Sec. General for Dr. Soliman Fakeeh Awards in Research, Innovation, Health Promotion d Medical Education. He is also appointed to be the General Supervisor of the Fakeeh Annual Congress, one of the biggest in the kingdom in the Kingdom of Saudi Arabia. His leadership skills, academic and clinical background shape him to run projects in terms of healthcare systems, hospitals, clinical practice, academic medical centers and colleges, research and innovation in addition to community engagement services.
Luigi Fontana, MD, PhD
Chairaman Ophthalmology Unit, University of Bologna, Bologna, Italy
Luigi Fontana MD, PhD is full professor and chairman of the Ophthalmology Unit IRCCS-AOSP University of Bologna, Bologna, Italy. Following his Residency Program in Ophthalmology at the University of Bologna, he completed a Fellowship in Visual Science at the Institute of Ophthalmology, University College of London, a Fellowship in Glaucoma at Moorfields Eye Hospital, London, and a Fellowship in Cornea at Moorfields Eye Hospital, London. He completed his Ph.D. in the vascular pathogenesis of normal tension glaucoma at the University la Sapienza in Rome. Dr. Fontana has worked for more than 20 years on the treatment of complex eye anterior segment diseases including cornea, ocular surface, cataract and glaucoma. He founded and directed the regional Eye Bank of Emilia Romagna for 10 years. His research encompassing more than 200 articles, book chapters, and books is mainly focused on new surgical techniques of corneal transplantation, glaucoma surgery and cataract surgery. He is former and current Board Member of several scientific societies including the Cornea Society, European Cornea Society, Società Italiana Trapianto di Cornea. Dr. Fontana is member of the Editorial Board of several international journals of ophthalmology.
Maria Morello, PhD
Clinical Biochemistry and Molecular Biology
Department of Experimental Medicine
Tor Vergata University, Rome
Maria Morello, PhD, is a full-time senior researcher and adjunct professor at University of Tor Vergata, Faculty of Medicine, Department of Experimental Medicine, laboratory of Clinical Biochemistry. She also performs hospital care activities at University Hospital of Tor Vergata, Rome (PTV)-Clinical Biochemistry section.
Born on the 15th of June 1968, she currently lives in Rome and is married with two children.
In 1991 she graduated (cum laudae) in Biological Science at the University of Rome “La Sapienza” in collaboration with CNR, elaborating a thesis entitled “Distribution of Nerve growth factor (NGF) receptor and acetyl choline transferase enzyme (ChAT) levels in the central nervous system of stressed rodents” (supervisors: Prof. Rita Levi Montalcini and Prof. Luigi Aloe).
In 1993 she qualified as Clinical Biologist at University of Rome “La Sapienza”.
In 1993 to 1994 she received a scholarship from Italian Space Agency (ASI) to carry out studies on the alterations of the concentrations of some bio-elements in the brain and muscles of rats subjected to simulated hypo-gravity.
In 1995 she obtained a permanent position as a Researcher at Department of Neuroscience, Faculty of Medicine (ex Med 26-Neurology).
From 1995 to 2006 she was a Biologist at the Divisional Service of Neuromuscular Diseases (Santo Eugenio-University Hospital, Rome), studying morphological analysis of neurons and muscle biopsies (applying and validating immunoenzymatic and immunocytochemical techniques).
In 1995 she obtained a grant (ITA-USA CNR-grant-short term mobility) as visiting researcher at the College of Medicine, Department of Anatomy and Neurobiology, University of Tennessee, Memphis, USA, to conduct research in order to characterize neurons of the basal ganglia of rats, by ultrastructural analysis (using immunocytochemical and histochemical techniques).
In 1999 she received a grant (ITA-UK CNR-grant-short term mobility) as visiting researcher at the Medical Research Council, Anatomical Neuropharmacological Unit, Department of Pharmacology, Oxford, UK, working on a project in neuroscience entitled: “Role of neuronal nitric oxide/cGMP pathway in rodent brain”.
In 2007 she obtained a permanent position as Director Biologist at the Laboratory of Clinical Biochemistry, Department of Experimental Medicine University Hospital of Tor Vergata (PTV), Rome (BIO12-E05/E3). She is currently responsible on the validation of medical lab examinations, such as biochemical exams, at the urgency, autoimmunity, protein, hematological and allergology sections.
From 2013 to 2017 she was a visiting Researcher (collaboration ITA-FRA), and worked with the Equipe “Plasticité olfactif et réparation du système nerveux”, UMR 7259 Neurobiologie des interactions cellularires et neurophysiopathologie (NICN), CNRS Aix-Marseille, France; where she worked on a project regarding the neurogenesis in animal models of Alzheimer Disease.
In 2017 she obtained a Doctoral Degree (PhD) in “Applied Medical and Surgical Sciences, Clinical Nutrition” (in collaboration with the University of Tor Vergata and the University of Marseille), presenting a thesis entitled: “Vitamin D and Alzheimer’s disease effects of supplementation/depletion on neurogenesis, amyloid plaques and cognition” (supervisors: Prof A. De Lorenzo, and Prof. F. Feron).
From 1995 to 2007 she carries teaching activity in neurosciences fields: Neuroanatomy and neurobiology (course for neurophysiopathology technicians), From 2007-today, she carries teaching activity in Biochemistry: Clinical Biochemistry and Medical Laboratory practices (to medical students- Faculty of Medicine), Human Clinical Biochemistry (Master's degree course in Medical Biotechnology), Biochemical monitoring of rehabilitation (Master’s degree course in Science and Techniques of Motor Activity), Pathophysiological Diagnostics (Undergraduate course for Orthopedic Technicians), Clinical Biochemistry (Specialization Course in Clinical Pathology for Biologist and Medical Doctors).
Starting form 1993 she contributed to several research projects concerning studies on Neurosciences, Neurobiology and Biochemistry.
In the recent years, her research activity has been focused mainly on the study of biochemical markers in neurodegenerative diseases as well as cytokines and vitamins in autoimmune diseases and the evaluation of cytokine and inflammatory markers in Covid.
She is a member of several national and international scientific organizations and societies: Italian Association of Neuropathology, Italian Association of Electron Microscopy, SIMEL, Italian Association, Laboratory Medicine, SiBioc Italian Association, Laboratory Medicine, SIES Italian society of hematology.
She is the author of several publications in national and international scientific journals and has given several oral presentations at national and international congresses, conventions and meetings.