by Christin Deal  , Kara Coffey  and Hey Chong

Received: 02 June 2023;  Published: 04 August 2023;  doi: 10.21926/obm.genet.2303190

Newborn screening (NBS) for Severe Combined Immunodeficiency (SCID) has been successfully implemented in all 50 United States and Puerto Rico from 2008-2018. This life-saving screening tool has drastically improved overall survival of babies diagnosed with SCID from 74% to 96%. TREC is a stable, circular DNA molecule that is produced during the process of T-cell receptor (TCR) rearrangement and is the target of the quantitative PCR screen on Guthrie cards. Low TRECs are a marker of low naive T cell numbers. This ne [...]

by Michel Ravelonandro  and Pascal Briard

Received: 16 January 2023;  Published: 25 July 2023;  doi: 10.21926/obm.genet.2303189

In order to sustain productivity, growers are implementing fruit trees to provide plum pox virus (PPV) resistant varieties. Unfortunately, classical breeding approaches have failed to develop resistant varieties. RNA interference (RNAi) silencing, as an alternate strategy, has been shown to be an efficient approach to combat PPV disease (sharka). PPV resistance based on RNAi has been demonstrated in natural conditions for over 10 years. Experiments using graft inoculation in high-containment greenhouses show that s [...]

by Sandra D.K. Kingma  , An I. Jonckheere  , Laurence Roosens  and François Eyskens

Received: 31 March 2023;  Published: 24 July 2023;  doi: 10.21926/obm.genet.2303188

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by a deficiency of the lysosomal hydrolase α-L-iduronidase. MPS I is characterized by a broad range of disease manifestations. This includes devastating neurocognitive and bone manifestations and a short life expectancy in severely affected MPS I patients. Neurocognitive manifestations are typically limited in more attenuated MPS I, but patients may still suffer from severe somatic and bone manifestations. Severe MPS I patients are primaril [...]

by Vasiliy A. Chokheli  , Semyon D. Bakulin  , Olga Yu. Ermolaeva  , Vishnu D. Rajput  , Anatoly S. Azarov  , Arpna Kumari  , Viсtoriya V. Stepanenko  , Anastasia A. Bushkova  , Pavel A. Dmitriev  , Marcos Edel Martinez-Montero  and Tatiana V. Varduni

Received: 11 November 2022;  Published: 20 July 2023;  doi: 10.21926/obm.genet.2303187

Hedysarum cretaceum Fisch is a critically endangered herbaceous species with high ornamental and phytomeliorative properties; thus, it needs urgent conservation and protection methods to conserve. In the present study, an efficient method for microtonal propagation of H. cretaceum is developed. The seed sterilization was optimized as treatment with 96% alcohol (2 min) and burned (1 sec) through a burner flame. Murashige and Skoog (MS) medium with the addition of 0.5 mg/L 6-Benzylaminopurine (BAP) (shoots per explan [...]

by Swaraj Mohanty  , Soumya Lipsa Rath  , Poornima Sharma  and Yasmin Ahmad

Received: 11 January 2023;  Published: 04 July 2023;  doi: 10.21926/obm.genet.2303186

The outbreak of coronavirus disease-2019 (COVID-19) had a striking impact on the worldwide healthcare system within a very short period. The availability of a large number of clinical data on SARS-CoV-2, conventional precautionary majors, and treatment strategies with the existing therapeutic antiviral drug molecules also fails to control progression and disease transmission among the population. Hence, we implemented pharmacoinformatics approaches to facilitate the drug discovery by repurposing naturally available [...]

by Behzad Foroutan

Received: 02 January 2023;  Published: 03 July 2023;  doi: 10.21926/obm.genet.2303185

The main purpose of this paper was to generate a narrative review related to the current knowledge of the TP53 gene and its product, the p53 protein. It was also attempted to elucidate the different p53 reactivation strategies of great interest, as various small molecules are being studied to reactivate mutant p53. PubMed and ScienceDirect were searched for p53, mutant p53, and wild-type p53 limited by the title filter through the end of 2022. The collected articles were studied, evaluated and summarized. In the sh [...]

by Zahra Iran Pour Mobarakeh  , Mansoureh Nickbakht  , Susan Sabbagh  , Maryam Khorramizadeh  and Marzieh Amiri

Received: 02 January 2023;  Published: 29 June 2023;  doi: 10.21926/obm.genet.2302184

Congenital hearing loss can have a long-term impact on children’s speech and communication abilities. Early detection and intervention of hearing loss are important in newborns. It is well known that there are several risk factors for hearing loss; however, the relationship between these risk factors and hearing screening tests remains uncertain in Iran. Therefore, this study aimed to explore the relationship between hearing loss risk factors and Automated Auditory Brainstem Response (AABR) and Transient-Evoked Oto [...]

by Abhay Vashishth  , Mohd Shuaib  , Tanya Bansal  and Shashank Kumar

Received: 03 September 2022;  Published: 21 June 2023;  doi: 10.21926/obm.genet.2302183

Lung cancer is a leading cause of death among all the cancer worldwide and it has the highest occurrence and mortality rates. Mycobacterium tuberculosis (MTB) induced tuberculosis has been known as one of the risk factors for lung carcinogenesis. The exact mechanism of MTB is understood to date. Several research and epidemiological studies about the link between tuberculosis and lung cancer exist. It has been proposed that tuberculosis causes chronic inflammation, which increases the risk of lung cancer by creating [...]

by Steven D. Ross  , Sydney Rudowski  and Shibani Kanungo

Received: 10 April 2023;  Published: 14 June 2023;  doi: 10.21926/obm.genet.2302182

Spinal muscular atrophy, a leading cause of infant death, is a neurodegenerative disease classified categorically based on age of onset and achieved motor function. The standard method of diagnosis is through molecular genetic testing, ideally through the newborn screen to facilitate early diagnosis and treatment. There are 4 types of spinal muscular atrophy, each with varying degrees of symptoms based on the number of survival motor neurons. Current treatment options include gene therapy and supportive care. Futur [...]

by Negar Noorbakhsh  , Mina Zamani  , Alireza Sedaghat  , Jawaher Zeighami  , Farangis Foroughi  , Sahere Parvas  , Alihossein Saberi  , Mohammad Hamid  , Roya Ghanavati  , Gholamreza Shariati  and Hamid Galehdari

Received: 11 October 2022;  Published: 12 May 2023;  doi: 10.21926/obm.genet.2302181

Familial Mediterranean Fever (FMF) is classified as an autoinflammatory genetic disease inherited by mutations in MEFV. These mutations can affect the dysregulation of inflammatory processes in the human body and lead to fever and pain in the chest and abdomen. Many known missense mutations in MEFV are linked to FMF disease. Mutations in MEFV in most cases are located on the short arm of chromosome 16 and can impair the function of the pyrin protein. In this research, we aimed to examine the entire exons of MEFV fo [...]