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Diagnosing Rare Diseases: Advances and Challenges

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A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 March 2023) | Viewed by 9353

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Special Issue Editors

Dr. Mina Tabrizi

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Guest Editor

Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
Interests: rare diseases; signaling; molecular targeting; tumorigenesis; phenotype association; variants; genetic association data; heritability

Dr. Saeed Talebi

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Guest Editor

Department of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
Interests: rare diseases; genome sequencing; phenotype association; variants; genetic association data; heritability

Special Issue Information

Dear Colleagues,

Approximately 250 new rare diseases are discovered each year, being subtypes of more common diseases with a newly identified rare genetic variant as the cause. There are 10,000 identified rare diseases affecting 25 to 30 million Americans. USD 966 billion were spent on rare diseases in 2019. Nature Genetics’ March 7th issue cover reads “Matching facial phenotypes of rare disorders” to briefly introduce the GestaltMatcher, described in the same issue, designed to decipher 1,100 rare disorders from clinical face phenotype descriptors. Interdisciplinary diagnoses will prevent the generation of data silos built around single or small groups of rare diseases. Electronic health records with annotations for rare-disease-related phenotypes can generate real-world-data-derived resources such as open annotation for rare diseases (OARD). Data are essential for prioritizing research based on disease burden, accelerating diagnoses, maximizing therapeutic benefits, and reducing inefficiencies. The use of genomics in healthcare should also strive for equity and sustainability to reduce health disparities.

Dr. Mina Tabrizi
Dr. Saeed Talebi
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

rare diseases
genome sequencing
exome sequencing
phenotype association
variants
genetic association data
heritability

Published Papers (4 papers)

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Research

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15 pages, 4943 KiB

Open AccessArticle

The Impact of the IKBKG Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti

by Snežana Minić, Nataša Cerovac, Ivana Novaković, Slobodan Gazikalović, Svetlana Popadić and Dušan Trpinac

Diagnostics 2023, 13(7), 1300; https://doi.org/10.3390/diagnostics13071300 - 30 Mar 2023

Cited by 1 | Viewed by 2162

Abstract

Incontinentia pigmenti (IP) is a rare skin disease combined with anomalies of the teeth, eyes, and central nervous system (CNS). Mutations of the IKBKG gene are responsible for IP. Among the most frequent CNS abnormalities found in IP using magnetic resonance imaging (MRI) are corpus callosum (CC) abnormalities. The aim of the study was to determine the presence of CC abnormalities, their relationship with the IKBKG mutations, and the possible presence of mutations of other genes. A group of seven IP patients was examined. Analyses of the IKBKG gene and the X-chromosome inactivation pattern were performed, as well as MRI and whole exome sequencing (WES) with the focus on the genes relevant for neurodegeneration. WES analysis showed IKBKG mutation in all examined patients. A patient who had a mutation of a gene other than IKBKG was excluded from further study. Four of the seven patients had clinically diagnosed CNS anomalies; two out of four had MRI-diagnosed CC anomalies. The simultaneous presence of IKBKG mutation and CC abnormalities and the absence of other mutations indicate that IKBKG may be the cause of CC abnormalities and should be included in the list of genes responsible for CC abnormalities. Full article

(This article belongs to the Special Issue Diagnosing Rare Diseases: Advances and Challenges)

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15 pages, 1462 KiB

Open AccessArticle

Expression Analysis of Five Different Long Non-Coding Ribonucleic Acids in Nonsmall-Cell Lung Carcinoma Tumor and Tumor-Derived Exosomes

by Samaneh Talebi, Asal Jalal Abadi, Golnesa Kazemioula, Nayyerehalsadat Hosseini, Forough Taheri, Saba Pourali, Touba Mahdloo, Marzieh Rezaei, Mohammadreza Mirinezhad, Naser Ajami and Arash Salmaninejad

Diagnostics 2022, 12(12), 3209; https://doi.org/10.3390/diagnostics12123209 - 17 Dec 2022

Cited by 2 | Viewed by 1819

Abstract

Long non-coding ribonucleic acids (LncRNAs) are recently known for their role in regulating gene expression and the development of cancer. Controversial results indicate a correlation between the tissue expression of LncRNA and LncRNA content of extracellular vesicles. The present study aimed to evaluate the expression of different LncRNAs in non-small cell lung cancer (NSCLC) patients in tumor tissue, adjacent non-cancerous tissue (ANCT), and exosome-mediated lncRNA. Tumor and ANCT, as well as serum samples of 168 patient with NSCLC, were collected. The GHSROS, HNF1A-AS1, HOTAIR, HMlincRNA717, and LINCRNA-p21 relative expressions in tumor tissue, ANCT, and serum exosomes were evaluated in NSCLC patients. Among 168 NSCLC samples, the expressions of GHSROS (REx = 3.64, p = 0.028), HNF1A-AS1 (REx = 2.97, p = 0.041), and HOTAIR (REx = 2.9, p = 0.0389) were upregulated, and the expressions of HMlincRNA717 (REx = −4.56, p = 0.0012) and LINCRNA-p21 (REx = −5.14, p = 0.00334) were downregulated in tumor tissue in contrast to ANCT. Moreover, similar statistical differences were seen in the exosome-derived RNA of tumor tissues in contrast to ANCT samples. A panel of the five lncRNAs demonstrated that the area under the curve (AUC) for exosome and tumor was 0.937 (standard error: 0.012, p value < 0.0001). LncRNAs GHSROS, HNF1A-AS1, and HOTAIR showed high expression in tumor tissue and exosome content in NSCLC, and a panel that consisted of all five lncRNAs improved diagnosis of NSCLC. Full article

(This article belongs to the Special Issue Diagnosing Rare Diseases: Advances and Challenges)

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13 pages, 2017 KiB

Open AccessArticle

A Novel ARMC5 Germline Variant in Primary Macronodular Adrenal Hyperplasia Using Whole-Exome Sequencing

by Maryam Eghbali, Sara Cheraghi, Sara Samanian, Iman Rad, Jafar Meghdadi, Hamideh Akbari and Maryam Honardoost

Diagnostics 2022, 12(12), 3028; https://doi.org/10.3390/diagnostics12123028 - 2 Dec 2022

Cited by 2 | Viewed by 1923

Abstract

Background: Primary macronodular adrenocortical hyperplasia (PMAH) is a rare form of adrenal Cushing’s syndrome with incomplete penetrance which may be sporadic or autosomal dominant. The inactivation of the ARMC5 gene, a potential tumor suppressor gene, is one of the associated causes of PMAH. This study aimed to identify the variant responsible for Iranian familial PMAH. Methods: The proband, a 44-year-old woman, was directed to whole-exome sequencing (WES) of the blood sample to discover a germline variant. In addition, the identified causative variant was confirmed and segregated in other and available unaffected family members. Results: The novel germline heterozygous missense variant, c.2105C>A in the ARMC5 gene, was found, and the same germline variant as the proband was confirmed in two affected sisters. This variant was detected in the brother of the proband with an asymptomatic condition and this considered because of incomplete penetrance and age-dependent appearance. The function of the ARMC5 protein would be damaged by the identified variant, according to in silico and computer analyses that followed. Conclusion: The new germline ARMC5 variation (c.2105C>A, (p. Ala702Glu)) was interpreted as a likely pathogenic variant based on ACMG and Sherloc standards. PMAH may be diagnosed early using genetic testing that shows inherited autosomal dominant mutations in the ARMC5 gene. Full article

(This article belongs to the Special Issue Diagnosing Rare Diseases: Advances and Challenges)

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6 pages, 7178 KiB

Open AccessInteresting Images

Living with Fibrodysplasia Ossificans Progressiva: Radiological Images of a Patient with Extensive Heterotopic Ossification

by Mohammed Mostafa Kotb, Usama Farghaly Omar and Arun-Kumar Kaliya-Perumal

Diagnostics 2023, 13(10), 1711; https://doi.org/10.3390/diagnostics13101711 - 12 May 2023

Cited by 1 | Viewed by 2655

Abstract

Fibrodysplasia ossificans progressiva (FOP) is an exceptionally rare genetic disorder characterized by the progressive formation of heterotopic bone in soft tissues. Here, we present the radiological findings of an 18-year-old female diagnosed with FOP who had severe spinal and right-upper-limb abnormalities. Her SF-36 scores suggested significant impairment in physical function, affecting work and other regular daily activities. Radiographic evaluation with X-rays and CT scans revealed scoliosis and total fusion of almost all levels of the spine, with only a few disc spaces spared. A large mass of heterotopic bone was observed, corresponding to the location of the paraspinal muscles in the lumbar region, branching upwards and fusing with the scapulae on both sides. On the right side, this exuberant heterotopic bone mass fused with the humerus, resulting in a fixed right shoulder, while the rest of the upper and lower limbs are spared and have a range of motion. Our report highlights the extensive ossification that can manifest in patients with FOP, resulting in restricted mobility and a poor quality of life. While there is no definite treatment that can reverse the effects of the disease, preventing injuries and minimizing iatrogenic harm is of critical importance in this patient as inflammation is known to play a key role in triggering heterotopic bone. Meanwhile, ongoing research into therapeutic strategies holds the key to unlocking a potential cure for FOP in the future. Full article

(This article belongs to the Special Issue Diagnosing Rare Diseases: Advances and Challenges)

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