Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients by Lane Fitzsimmons, Undiagnosed Diseases Network, Brett Beaulieu-Jones, Shilpa Nadimpalli Kobren

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Choosing preferable labels for the Japanese translation of the Human Phenotype Ontology by Kota Ninomiya, Terue Takatsuki, Tatsuya Kushida, Yasunori Yamamoto, Soichi Ogishima

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Schwannoma of the Base of the Tongue: A Case Report of a Rare Disease and Review of Literatures by Mohd. Yusuf Haider, Manjur Rahim, N. M. K. Bashar, Md. Zakir Hossain, Sk Md Jaynul Islam

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Two Rare Diseases, One Patient: A Case Report of Mucormycosis and Granulomatous Polyangiitis by Syeda Aasia Batool, Usha Kumari, Salim Surani

“…The simultaneous occurrence of mucormycosis and GPA, two rare diseases, in the same patient is exceedingly rare. …”
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Ensuring patient access to gene therapies for rare diseases: Navigating reimbursement and coverage challenges by Diane Berry, Carolyn Hickey, Lisa Kahlman, James Long, Christina Markus, Caitlin K. McCombs

“…The rapid transformation in rare disease treatment, driven by advances in genetic medicine and diagnostics, underscores the urgent need for access to these innovative therapies. …”
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Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases by Fernando De Maio, Alessandro Fichera, Vincenzo De Luna, Federico Mancini, Roberto Caterini

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A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice by Cristina Méndez-Vidal, Nereida Bravo-Gil, Javier Pérez-Florido, Irene Marcos-Luque, Raquel M. Fernández, José Luis Fernández-Rueda, María González-del Pozo, Marta Martín-Sánchez, Elena Fernández-Suárez, Marcela Mena, Rosario Carmona, Joaquín Dopazo, Salud Borrego, Guillermo Antiñolo

Subjects: “…Rare diseases…”
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An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets by Adam S. L. Graefe, Miriam R. Hübner, Filip Rehburg, Steffen Sander, Sophie A. I. Klopfenstein, Samer Alkarkoukly, Ana Grönke, Annic Weyersberg, Daniel Danis, Jana Zschüntzsch, Elisabeth F. Nyoungui, Susanna Wiegand, Peter Kühnen, Peter N. Robinson, Oya Beyan, Sylvia Thun

“…Abstract Although rare diseases (RDs) affect over 260 million individuals worldwide, low data quality and scarcity challenge effective care and research. …”
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Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the “acERca las enfermedades raras” project by José Hernández-Rodríguez, Fernando Martínez-Valle, Xènia Acebes, Carmen Alerany, Jordi Antón, Gonzalo Calvo, Marian Corral, Jordi Cruz, M. Antònia Mangues-Bafalluy, José Mateo, Josefa Rivera, Albert Salazar, Roser Francisco, Cristina Mallol, Rita Reig-Viader, Ariadna Tigri-Santiña, Assumpta Ricart, Francesc Palau

Subjects: “…Rare diseases…”
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Unusual Presentation of a Rare Disease: A Case Report of Fungal Necrotizing Otitis Media and Mastoiditis by Ermia Mousavi Mohammadi, Mohsen Rajati, Hossein Zarrinfar

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Pancytopenia in a 70-Year-Old African-American Male: An Unusual Presentation of a Rare Disease by Aibek E. Mirrakhimov, Alaa M. Ali, Aram Barbaryan, Nwabundo Anusim, Raya Saba, Shawn G. Kwatra, Nasir Hussain, Teresita Zdunek, Alan D. Gilman

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Sporadic, Nontrauma-Related, Desmoid Tumor of the Pancreas: A Rare Disease—Case Report and Literature Review by F. Polistina, G. Costantin, E. D'Amore, G. Ambrosino

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A phenotype-based AI pipeline outperforms human experts in differentially diagnosing rare diseases using EHRs by Xiaohao Mao, Yu Huang, Ye Jin, Lun Wang, Xuanzhong Chen, Honghong Liu, Xinglin Yang, Haopeng Xu, Xiaodong Luan, Ying Xiao, Siqin Feng, Jiahao Zhu, Xuegong Zhang, Rui Jiang, Shuyang Zhang, Ting Chen

“…Abstract Rare diseases, affecting ~350 million people worldwide, pose significant challenges in clinical diagnosis due to the lack of experienced physicians and the complexity of differentiating between numerous rare diseases. …”
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Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis by Judith Giroud-Gerbetant, Fernando Sotillo, Gonzalo Hernández, Irene Ruano, David Sebastián, Joana Fort, Mayka Sánchez, Günter Weiss, Neus Prats, Antonio Zorzano, Manuel Palacín, Susanna Bodoy

Subjects: “…Rare disease…”
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T Cell Histiocyte Rich Large B Cell Lymphoma Presenting as Hemophagocytic Lymphohistiocytosis: An Uncommon Presentation of a Rare Disease by Uroosa Ibrahim, Gwenalyn Garcia, Amina Saqib, Shafinaz Hussein, Qun Dai

“…We discuss the clinical manifestations and diagnostic and therapeutic considerations of this rare disease along with a review of reported cases in the literature.…”
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Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases by Jaemoon Shin, Toyofumi Fujiwara, Hirotomo Saitsu, Atsuko Yamaguchi

Subjects: “…Rare disease…”
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Estimating rare disease prevalence and costs in the USA: a cohort study approach using the Healthcare Cost Institute claims data by Keith A Crandall, Christine M Cutillo, Ainslie Tisdale, Mahdi Baghbanzadeh, Reva L Stidd, Manpreet S Khural, Laurie J Hartman, Jeff Greenberg, Kevin B Zhang, Ali Rahnavard

“…Objective The study capitalised on national insurance claims data to gather information on patient characteristics and associated costs to better understand the diagnosis and treatment of rare diseases (RDs).Materials and methods Data from the Healthcare Cost Institute (HCCI) data enclave were analysed using R statistical software and filtered by the International Classification of Diseases, 10th edition (ICD-10), current procedural terminology codes and the National Drug Code associated with 14 RDs and disease-modifying therapy options. …”
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Hyperparathyroidism Jaw Tumor Syndrome Presenting as Recurrent Femur Fractures in a Young Woman; a Rare Presentation of a Rare Disease by Piyumi S. A. Wijewickrama, Noel P. Somasundaram

“…Hyperparathyroidism jaw tumor syndrome is an important diagnosis to consider in a young patient presenting with classic clinical features due to the risk of malignancy, familial involvement, and need to monitor for progressive systemic manifestations. As this is a rare disease, it can often be missed due to low degree of suspicion and the ability of the jaw tumor to mimic a metastatic deposit.…”
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Blastic plasmacytoid dendritic cell neoplasm: a Swiss case series of a very rare disease and a structured review of the literature by Ramona Meier-Lienhard, Cosima Suter, Thomas Pabst, Felicitas Hitz, Jakob R. Passweg, Olivier Spertini, Nathan Cantoni, Daniel Betticher, Lucas Simeon, Michael Medinger, Stefanie Hayoz, Adrian Schmidt

“… INTRODUCTION: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a very rare disease, with unique diagnostic challenges and often dismal outcome. …”
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