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)

Current Issue: 2024  Archive: 2023 2022 2021 2020 2019 2018 2017

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

Website | E-Mail

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!


Open Access Opinion

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 Syndrome

Received: 15 February 2024;  Published: 08 May 2024;  doi: 10.21926/obm.genet.2402234


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 [...]
Open Access Case Report

Sun Safety Struggles Among Children with Xeroderma Pigmentosum in a Tropical Low-Income Country

Received: 05 February 2024;  Published: 19 April 2024;  doi: 10.21926/obm.genet.2402229


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 [...]
Open Access Case Report

The Jacobs Syndrome: Clinical Case

Received: 15 October 2023;  Published: 28 February 2024;  doi: 10.21926/obm.genet.2401218


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 [...]
Open Access Research Article

Exploring Education for Children with 22q11.2 Deletion Syndrome: A Qualitative Study of Mothers Perspectives

Received: 26 September 2023;  Published: 28 February 2024;  doi: 10.21926/obm.genet.2401217


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 [...]
Open Access Original Research

Problems of Motor Development of 6-7 Years Old Children with Autism Spectrum Disorders

Received: 21 September 2023;  Published: 11 December 2023;  doi: 10.21926/obm.genet.2304205


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 [...]