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The importance of psychological support for parents and caregivers of children with a rare disease at diagnosis
Review|Published on: 8 Apr 2022 -
The dynamic and urgent path of rare disease and orphan drug research
Editorial|Published on: 16 Mar 2021
Articles
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Neutrophil serine proteases
Rare Dis Orphan Drugs J 2023;2:6. DOI: 10.20517/rdodj.2022.21AbstractThe identification and characterization of the four active neutrophil serine proteases (NSPs) have provided a ... MOREThe identification and characterization of the four active neutrophil serine proteases (NSPs) have provided a better understanding of their roles in various physiological and pathological processes. The availability of appropriate tools such as substrates, inhibitors, and activity-based probes (ABPs) for studying their activity and functions in cells has become increasingly important. In this paper, the authors provide a comprehensive overview of the current knowledge on the tools available for studying NSPs. The substrates, inhibitors, and ABPs developed to date are described, including their strengths and limitations. The authors also discuss the potential implications of these tools for future research on NSPs, including their potential use in the development of new therapeutics for various diseases. Overall, this paper highlights the importance of understanding the activity and functions of NSPs and provides valuable information on the tools available for studying these proteases. LESS Full articleReview|Published on: 28 Mar 2023
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Immune cell-derived serine protease as pathogenic drivers of vascular remodeling in pulmonary arterial hypertension
Rare Dis Orphan Drugs J 2023;2:5. DOI: 10.20517/rdodj.2022.20AbstractIn recent years, accumulating evidence has shown that pulmonary arterial hypertension (PAH) has a strong ... MOREIn recent years, accumulating evidence has shown that pulmonary arterial hypertension (PAH) has a strong underlying inflammatory component. Vascular remodeling, a common pathology observed in all forms of pulmonary hypertension (PH), is accompanied by a pronounced accumulation of leukocytes around and within the vessels. Proteolytic products of immune cells, particularly neutrophil and mast cell serine proteases, have been shown to play a central pathogenic role in vascular remodeling and PAH development. Serine proteases are involved in many aspects of the inflammatory response, such as extracellular matrix degradation, regulation of bioavailability of cytokines, chemokines, and growth factors, and dysregulation of their activity can have devastating consequences. In this review, we will focus on immune dysregulation in PAH and shed light on the pro-inflammatory role of serine proteases in vascular pathology observed in the context of this disease. LESS Full articleReview|Published on: 22 Mar 2023
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Health disparities in Turner Syndrome: UTHealth Turner Syndrome Research Registry
Rare Dis Orphan Drugs J 2023;2:4. DOI: 10.20517/rdodj.2023.02AbstractAim: Turner Syndrome (TS) is caused by partial or complete absence of the second sex ... MOREAim: Turner Syndrome (TS) is caused by partial or complete absence of the second sex chromosome in a phenotypic female. TS is associated with recognizable congenital anomalies and chronic health conditions. The principal objective of this study was to evaluate the health-related knowledge and insight of participants.Methods: In 2015, we founded the UTHealth Turner Syndrome Research Registry for longitudinal follow-up of individuals with TS. Study participants were recruited from UTHealth Houston clinics and the Turner Syndrome Society of the United States. Participants completed a questionnaire about demographics, karyotype, congenital anomalies, health history, frequency of contact with care providers, and knowledge of care providers about TS.Results: Forty percent of registry participants indicated that they did not know their karyotypes. Knowledge of karyotype, which can predict clinical outcomes in TS, markedly varied by self-reported race and ethnicity but not by age. Participants also reported significant gaps in routine medical and gynecologic care.Conclusion: We identified knowledge gaps and health disparities that could benefit from improved provider and patient education. LESS Full articleOriginal Article|Published on: 16 Mar 2023
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Cathepsin K: both a likely biomarker and a new therapeutic target in lymphangioleiomyomatosis?
Rare Dis Orphan Drugs J 2023;2:3. DOI: 10.20517/rdodj.2022.24AbstractLymphangioleiomyomatosis (LAM) is a rare disease that is characterized by cystic lung destruction and lymphangiomas ... MORELymphangioleiomyomatosis (LAM) is a rare disease that is characterized by cystic lung destruction and lymphangiomas and is associated with a high risk of osteoporosis-related bone fractures. Its diagnosis is based on pulmonary anatomopathological criteria combined with chest computed tomography. VEGF-D is the only serum diagnostic biomarker used in the clinic, while inhibition of the mTOR pathway by rapamycin is currently the only reference therapy for LAM. Human cathepsin K (CatK), a potent collagenase predominantly found in osteoclasts, is considered as a valuable target for anti-osteoporosis and bone cancer therapy. Recently, CatK, which is overexpressed in lung cysts, was proposed as a putative LAM biomarker. Moreover, CatK may take part in the LAM pathophysiology by participating in pulmonary cystic destruction and bone degradation. Accordingly, targeting collagenolytic activity of CatK by exosite-binding inhibitors in combination with mTOR inhibition could represent an innovative therapeutic option for reducing lung destruction in LAM. LESS Full articlePerspective|Published on: 13 Mar 2023
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A report and review of the recurrent c.811C>T variant and mutation spectrum of Kindler syndrome in East Asians: a diagnostic odyssey of 2 weeks versus 49 years
Rare Dis Orphan Drugs J 2023;2:2. DOI: 10.20517/rdodj.2022.25AbstractKindler Syndrome (KS) is one of the rarest subtypes of epidermolysis bullosa (EB). It is ... MOREKindler Syndrome (KS) is one of the rarest subtypes of epidermolysis bullosa (EB). It is characterised by congenital blistering, skin fragility, photosensitivity, and poikilodermatous skin changes. It is an autosomal recessive condition with an established disease-causing mechanism of having biallelic pathogenic variants in the FERMT1 gene. Multiple variants have been reported worldwide since the discovery in 1954. This case report describes two patients of Chinese descent with molecularly confirmed KS, one diagnosed in infancy while the other in mid-adulthood. It highlights the importance and clinical utility of diagnosing KS in children versus adults. The identification of recurrent c.811C>T variant in both patients also expedited the review of local databases and the existing mutation spectrum KS in East Asians. LESS Full articleCase Report|Published on: 3 Mar 2023
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Elastase-dependent congenital neutropenia
Rare Dis Orphan Drugs J 2023;2:1. DOI: 10.20517/rdodj.2022.12AbstractCongenital neutropenia, which refers to an inherited deficiency in neutrophils, is a rare pathologic condition ... MORECongenital neutropenia, which refers to an inherited deficiency in neutrophils, is a rare pathologic condition that affects approximately 0.0001-0.0009% of the general population. While congenital neutropenia can result from mutations in approximately 30 genes, its leading cause is gain-of-function mutations in the ELANE gene, which encodes the neutrophil granule serine protease, neutrophil elastase. This review focuses on established and novel concepts in the genetic, molecular and cellular mechanisms underlying neutrophil elastase-dependent neutropenia, and discusses possible new avenues for neutropenia research as well as potential novel treatment options that target pathogenic elastase variants. LESS Full articleReview|Published on: 6 Feb 2023
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Ongoing Special Issues
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Topic: Newborn Screening II - Patients Perspectives on NBS
Submission Deadline: 30 Jun 2023
Published articles: 0
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Topic: Newborn Screening I - Real World Applications and Technologies
Submission Deadline: 31 Mar 2023
Published articles: 0
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Topic: Neutrophil Serine Proteases in Rare Diseases
Submission Deadline: 31 Aug 2022
Published articles: 5
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About The Journal
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ISSN
2771-2893 (Online)
Publisher
OAE Publishing Inc.
Article Processing Charges
$1200
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Editor-in-Chief
Daniel SchermanPublishing Model
Gold Open Access
Copyright
Copyright is retained by author(s)
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Publication Frequency
Quarterly
Indexing
Journal Data Analysis
Total publications: 24
Total article views: 24,207
Total article downloads: 4,982
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