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The journal has specific rules to formatting a manuscript that authors should adhere to before shipping their manuscript. These guidelines are primarily intended to make the submission of manuscript quick and easy.    Read More

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Ethics & Disclosures

Journal of Rare Diseases Research & Treatment is primarily based on values centered on loyalty, commitment, scientific accuracy, and ethics. It has adopted clear and rigorous ethical guidelines for best working practices.    Read More

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Each article we publish benefits from hundreds of hours of work by Chief editors, Sectional editors, Reviewers, Manuscript editors, Proofreaders, Graphics and Web experts, who work to ensure that the manuscript meets our standards.    Read More

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Focus & Scope


The overarching goal of the Journal of Rare Diseases Research & Treatment is to remain as a credible source of information on rare diseases and orphan drugs emphasizing on novel clinical features, rare case reports, Molecular genetic etiology, genotype-phenotype correlations, cellular and molecular biology, pathogenesis, mutations, disease mechanisms, diagnostic approaches, medical aspects, health economics and treatment options of the rare disease complexities.

The journal aims to create a stronger collective voice in bringing a real change in the rare disease community.

The integral part of our scholarly mission is to ensure the accuracy of journal quality in accord with the highest standards of professional ethics.

“Quality is our Priority.
It is the Foundation of our Publication"

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Recent Articles


Vol 4-1 Mini Review

Spectrum of Lung and Cardiovascular Diseases in Association with Pulmonary Interstitial Glycogenosis

Rose Chami*

Division of Pathology, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada

“Pulmonary Interstitial Glycogenosis (PIG) associated with a spectrum of neonatal pulmonary disorders”, reported by Cutz et al represents one of the largest series published to date. The report included twenty-eight cases of lung or cardiac disorders with coincident diffuse, patchy, or focal PIG reviewed in Division of Pathology, The Hospital for Sick Children. The authors focused on reporting a spectrum of disorders associated with PIG and described four clinicopathological subgroups including imaging, ultrastructural findings, and clinical outcome. The present paper highlights the main findings reported by Cutz et al, and a review of literature is also presented.

DOI: 10.29245/2572-9411/2018/1.1170 Read More
Vol 4-1 Research Article

Genetic Landscape of aHUS: A Comprehensive Analysis of Genetic Variants Reported in The Literature

Rui-Ru Ji1*, Tatiana Serebriyskaya2,3, Natalia Kuzkina2,3

1Alexion Pharmaceuticals, Inc., 121 Seaport Boulevard, Boston, MA 02210, USA

2EPAM Systems, 22/2 Zastavskaya Street, MegaPark, 196084, Saint-Petersburg, Russia

3Moscow Institute of Physics and Technology, School of Biological and Medical Physics, 9 Institutskiy per., Dolgoprudny, 141701, Moscow, Russia

Genetic information provides important guidance for long-term management of patients with atypical hemolytic uremic syndrome (aHUS), an extremely rare disease that primarily affects a patient’s kidney. To better understand the phenotypic impact of variants identified in aHUS patients, we systematically mined the National Library of Medicine database for case studies of aHUS patients with identifiable genetic variants. Allelic variants from 10 genes (C3, CFB, CFH, CFI, CFHR1, CFHR3, CFHR5, DGKE, CD46/MCP, and THBD) associated with aHUS were collected from 1652 patients. We analyze the enrichment of genetic variants in this “literature cohort” compared with a reference population, the Genome Aggregation Database (gnomAD). We also used a number of tools to predict the pathogenicity of the variants, attempting to reconcile all the results using the protein structure and conservation data. In total, we identified 447 unique genetic variants: 301 of these were not present in the gnomAD database and thus have “moderate” evidence of pathogenicity; 33 variants have “strong” evidence of pathogenicity by enrichment analysis. This study showcases an in silico framework that patient data aggregation and a large scale sequencing database provided a novel opportunity to understand genotype-phenotype associations in aHUS. This framework can be efficiently applied to other rare diseases where data are sparse to help improve the diagnosis and management of these patients.

aHUS: atypical hemolytic uremic syndrome; gnomAD: Genome Aggregation Database; CD46/MCP: cluster of differentiation 46/membrane cofactor protein; CFH: complement factor H; CFI: complement factor I; CFB: complement factor B; C3: complement component 3; ACMG: American College of Medical Genetics; AF: allele frequency; CFHR1: complement factor H-related protein 1; CFHR3: complement factor H-related protein 3; CFHR5: complement factor H-related protein 5; DGKE: diacylglycerol kinase epsilon; THBD: thrombomodulin; MEDLINE: Medical Literature Analysis and Retrieval System Online; VEP: variant effect predictor; SIFT: sorts intolerant from tolerant substitutions; PROVEAN: protein variation effect analyzer; FATHMM: functional analysis through Hidden Markov Models

DOI: 10.29245/2572-9411/2018/1.1168 Read More
Vol 4-1 Mini Review

From Next Generation Sequence to the Phenotype: Exploring the Bainbridge-Ropers Syndrome with Loss of Function Variants in ASXL3

Silvina Noemí Contreras-Capetillo1*, Melania Abreu-González2

1Laboratorio de Genética, Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Mérida, Yucatán, México

2Laboratorio de Biología Molecular y Secuenciación Masiva. Genos Médica, Centro Especializado en Genética, Ciudad de México, México

In 2013, Bainbridge-Ropers syndrome (MIM #615485) was described in patients with severe global developmental delay, postnatal microcephaly and feeding problems due to heterozygous loss of function variants in the ASXL3 gene. The ASXL3 is part of the ASXL gene family involved in gene expression during embryogenesis and they participate as epigenetic scaffolds capable of interacting with complex modifiers of chromatin and diverse transcription factors. Germline variants in ASXL1, ASXL2 and ASXL3 have been associated with neurodevelopmental disorders which clinical phenotypic presentation resembles to Bainbridge-Ropers syndrome thus elucidating these types of overlapping genetic disorders is challenging. Up to now, approximately forty patients have been confirmed with this syndrome by next generation sequencing. The implementation of whole exome sequencing allows early identification and definitive diagnosis of patients with clinically unestablished phenotypes, as seen in AXL3 gene. This review discusses clinical and molecular features of variants in AXL3 gene associated with Bainbridge-Ropers syndrome.

DOI: 10.29245/2572-9411/2019/1.1160 Read More
Vol 4-1 Mini Review

Simplified Approach to Glutaric Acidurias: A Mini-Review

Neslihan Y?ld?r?m Saral, Fehime Benli Aksungar*, Mustafa Serteser

Acibadem University, School of Medicine, Department of Biochemistry, Acibadem Labmed Clinical Laboratories, Department of Metabolism Istanbul, Turkey

Inherited metabolic diseases (IMDs), comprise a large class of genetic diseases affecting the metabolism. Expanded newborn screening from dried dried blood spot (DBS) samples for inborn errors of metabolism has increased the detection of metabolic disorders in asymptomatic newborns and reduced the morbidity and mortality by early interventions. Organic acidurias (OADs) arise from the defects in the intermediary metabolic pathways of carbohydrate, amino acid and fatty acid oxidation, leading to the accumulation of organic acids in tissues and their subsequent excretion in urine. Glutaric acidurias are a group of OADs which have three major types with different genetic mutations affecting different metabolic enzymes. In this mini-review we will compare three types of GA and their genotypes, symptoms, diagnosis, and treatments will be discussed briefly.

DOI: 10.29245/2572-9411/2019/1.1171 Read More
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