(ISSN 2577-5790)
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 a variety of article types (Original Research, Review, Communication, Opinion, Comment, Conference Report, Technical Note, Book Review, 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.
Publication Speed (median values for papers published in 2023): Submission to First Decision: 5.1 weeks; Submission to Acceptance: 17.0 weeks; Acceptance to Publication: 7 days (1-2 days of FREE language polishing included)
Special Issue
Rare Genetic Syndromes: From Diagnosis to Treatment
Submission Deadline: November 30, 2024 (Open) Submit Now
Guest Editor
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.
Manuscript Submission Information
Manuscripts should be submitted through the LIDSEN Submission System. Detailed information on manuscript preparation and submission is available in the Instructions for Authors. All submitted articles will be thoroughly refereed through a single-blind peer-review process and will be processed following the Editorial Process and Quality Control policy. Upon acceptance, the article will be immediately published in a regular issue of the journal and will be listed together on the special issue website, with a label that the article belongs to the Special Issue. LIDSEN distributes articles under the Creative Commons Attribution (CC BY 4.0) License in an open-access model. The authors own the copyright to the article, and the article can be free to access, distribute, and reuse provided that the original work is correctly cited.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). Research articles and review articles are highly invited. Authors are encouraged to send the tentative title and abstract of the planned paper to the Editorial Office (genetics@lidsen.com) for record. If you have any questions, please do not hesitate to contact the Editorial Office.
Welcome your submission!
Publication
A Child Carrying a Large Deletion in the 10p.15.3-p12.31 RegionAbstract Partial deletion of 10p is a rare disorder. Common features of this disorder include intellectual disability, developmental delay, dysmorphic features, hypoparathyroidism, deafness, and renal anomalies, but the phenotypes can vary between patients. We report an infant girl presented with global developmental delay, distinctive facial features [...] |
A Narrative Review on the Use of Eye-Tracking in Rett Syndrome: Implications for Diagnosis and TreatmentAbstract Rett syndrome (RTT) is a rare neurodevelopmental disorder primarily affecting females, characterized by a spectrum of debilitating symptoms that impact neurological, cognitive, and motor functions. Eye-tracking technology (ETT) has emerged as a prominent tool in Augmentative and Alternative Communication (AAC) systems, particularl [...] |
Prevention of Drug Resistant Epilepsy and Developmental Epileptic Encephalopathy: Preventative Vigabatrin Treatment in Tuberous Sclerosis Complex and the Case for Fenfluramine Treatment of Children with Newly Diagnosed Dravet Syndromeby
Amanda Pong
and
Pavel Klein
Abstract Tuberous sclerosis complex (TSC) is caused by mutations of hamartin (TSC1) or tuberin (TSC2) resulting in disinhibition of the mTOR pathway of cellular proliferation and differentiation and severe neurocognitive impairment, intractable epilepsy and tumors. Epilepsy develops in ~90% folllowed by drug-resistant epilepsy (DRE). Recent [...] |
Sun Safety Struggles Among Children with Xeroderma Pigmentosum in a Tropical Low-Income CountryAbstract Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by increased sensitivity to ultraviolet radiation, leading to severe skin manifestations and a higher risk of early-onset malignancies. Previous studies from temperate climate countries with sound economic levels showed adequate photoprotection compliance among pediatric XP [...] |
The Jacobs Syndrome: Clinical CaseAbstract This work describes a clinical case of a violation of sex formation in a newborn child with Y-chromosome dysomy. The diagnostic challenges related to Y-chromosome variability and associated anomalies in sex development are being considered. The work presents clinical and laboratory data for Y-chromosome dysomy. It is noted that [...] |
Exploring Education for Children with 22q11.2 Deletion Syndrome: A Qualitative Study of Mothers PerspectivesAbstract 22q11.2 deletion syndrome (22q11.2DS) is a complex and widely variable genetic syndrome involving multisystem physical health problems, significant cognitive and psychosocial challenges, all of which may impact upon learning and academic achievement. In the current study, we explored mothers’ perceptions of their child’s learning within [...] |
Problems of Motor Development of 6-7 Years Old Children with Autism Spectrum Disordersby
Lyudmila N. Voloshina
,
Viktor L. Kondakov
,
Karina E. Panasenko
,
Lyudmila K. Buslovskaya
and
Dmitry V. Shcherbin
Abstract According to modern research, there is a high risk of motor development disorders in children 6-7 years old with autism spectrum disorders. This determines the relevance of studying the problem of individual differences in motor development of children 6-7 years old with autism spectrum disorders, the need for objective assessment of its level [...] |
| 2023 |  |
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| CiteScore | SJR | SNIP |
| 0.4 | 0.160 | 0.093 |
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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.
Mirela Olympia Fagarasan Palmer
Luigi Fontana, MD, PhD.jpg)
Zhong-Ting (Justin) is a PhD student from Nanyang Technological University (Singapore). He holds BSc in Applied Chemistry and MSc in Environmental Engineering. He was a R&D researcher of NanoMaterials Technology Pte Ltd in Singapore (2006-2012). His current research interests are functional nanomaterials synthesis & design, and their application into environmental/chemical engineering. He has published near 60 SCI papers in Applied Catalysis B, Chemical Engineering Journal and so on with H-Index 23. He also serviced as reviewers over 40 Journals such as Appl. Catal. B, Water Research, Chem. Eng. J, ACS Applied Materials & Interface, etc. He was honored such as “The Bsic Research Achievment 1st Award of CIESC”, “The ZJUT Fund Breeding Distinguished Young Scholars” etc.
Rolf Teschke studied Medicine in Munich and Marburg, where he finished his MD thesis before starting a residency at the Department of Pathology, University of Marburg. Subsequently and with a fellowship of the Deutsche Forschungsgmeinschaft, he worked at the Bronx VA Hospital/Mount Sinai Hospital in New York during 1972–1975 together with Professor Charles S. Lieber and successfully isolated MEOS and expanded its characterization. Back in Germany, he was at the Heinrich-Heine University in Düsseldorf with a focus on alcoholic liver disease, biochemical drug studies, and clinical intoxications by halogenated aliphatic hydrocarbons, where he became a Professor of Medicine. In 1987, he was offered a chief position and appointed as Director of the Medical Department II, City Hospital Hanau, Teaching Hospital of the Johann Wolfgang Goethe University Frankfurt/Main. His clinical and research interests are on liver injury by drugs and herbs including causality assessment by RUCAM in close association with Dr. Gaby Danan in Paris. A perfect cooperation exists also with Professor Tran Dang Xuan of the University of Hiroshima, Japan. Finally, he is the author of more than 275 publications including books and book chapters, and he is editor in chief of scientific journals and member of editorial boards.