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BMC Series Focus Issue

March: Rare Diseases

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Rare diseases are defined as those that affect less than 1 in 200,000 people in the US. While this might be a minority of the population, together, all rare diseases, affect around 5% of the population at any given time. This poses a significant risk to human health that is not adequately supplemented with diagnosis or treatment paradigms. The World Rare Diseases day celebrated each year on the last day of February, sheds light on the need for more focus on these rare diseases calling for action on all aspects including understanding disease mechanisms, diagnosis, treatment and even simply the reporting of rare diseases to shed light on the real problems. 

To celebrate World Rare diseases day on the 28th of February, BMC Series presents a Focus Issue collating recent research on all angles of rare diseases published within our journals. 

Biology of disease

Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development
L. Powell, M. Barroso-Gil, G. J. Clowry, L. A. Devlin, E. Molinari, S. A. Ramsbottom, C. G. Miles & J. A. Sayer
BMC Developmental Biology 20: 26 (2020)

Characterisation of Zika virus infection in primary human astrocytes
Michal Stefanik, Petra Formanova, Tomas Bily, Marie Vancova, Ludek Eyer, Martin Palus, Jiri Salat, Carla Torres Braconi, Paolo M. de A. Zanotto, Ernest A. Gould & Daniel Ruzek
BMC Neuroscience 19: 5 (2018)

The role of the globular heads of the C1q receptor in TcdA-induced human colonic epithelial cell apoptosis via a mitochondria-dependent pathway
Jinhua Liang, Yongzhong Ning, Li Dong, Xiufeng Ma, Shu Li, Heran Yang, Qi Li, Ling Chen, Lingjuan Gao & Yanmin Xu
BMC Microbiology 20: 274 (2020)

The negative charge of the 343 site is essential for maintaining physiological functions of CXCR4
Liqing Wang, Qiuhong Xiong, Ping Li, Guangxin Chen, Nayab Tariq & Changxin Wu
BMC Molecular and Cell Biology 22: 8 (2021)

Case reports and clinical studies

Grisel’s syndrome: a case report on this rare pediatric disease and its anesthetic challenges
Kavya N. Reddy, Shabaaz M. Baig, Meenu Batra, Kevin Colodner, Uchenna Madubuko, Anna Korban & Shridevi Pandya Shah
BMC Anesthesiology 20: 255 (2020)

First case of AML with rare chromosome translocations: a case report of twins
Lin Wang, Yanhua Sun, Yanli Sun, Lingbin Meng & Xin Xu
BMC Cancer 18: 458 (2018)

The association between oxidative stress and endothelial dysfunction in early childhood patients with Kawasaki disease
Takamichi Ishikawa & Keigo Seki
BMC Cardiovascular Disorders 18: 30 (2018)

Clinical characteristics of adrenal crisis in adult population with and without predisposing chronic adrenal insufficiency: a retrospective cohort study
Masahiro Iwasaku, Maki Shinzawa, Shiro Tanaka, Kimihiko Kimachi & Koji Kawakami
BMC Endocrine Disorders 17: 58 (2017)

Serum osteocalcin level is associated with the mortality in Chinese patients with Fibrodysplasia ossificans progressiva aged ≤18 years at diagnosis
Dunmin She, Ran Li, Ping Fang, Guannan Zong, Ying Xue & Keqin Zhang
BMC Musculoskeletal Disorders 21: 152 (2020)

Maxillary epithelioid hemangioendothelioma: an especially rare malignant tumor mimicking periodontal disease
Gintaras Januzis, Dovydas Sakalys, Martynas Mantas Krukis & Dmitrij Seinin
BMC Oral Health 20: 309 (2020)

Treatment of posttraumatic patella osteomyelitis with MRSA infection and knee stiffness: a case report
Haiyong Ren, Kai Huang, Peijian Tong & Yansheng Zhu
BMC Surgery 20: 320 (2020)

Procalcitonin expression in patients with large cell neuroendocrine carcinoma of the lung
Masamichi Itoga, Hisashi Tanaka, Kageaki Taima, Yoshiko Ishioka, Hiroaki Sakamoto, Shingo Takanashi, Akira Kurose & Sadatomo Tasaka
BMC Research Notes 14: 25 (2021)


Use and importance of different information sources among patients with rare diseases and their relatives over time: a qualitative study
Svenja Litzkendorf, Martin Frank, Ana Babac, Daniel Rosenfeldt, Franziska Schauer, Tobias Hartz & J.-Matthias Graf von der Schulenburg
BMC Public Health 20: 860 (2020)

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability
Tracy Dudding-Byth, Anne Baxter, Elizabeth G. Holliday, Anna Hackett, Sheridan O’Donnell, Susan M. White, John Attia, Han Brunner, Bert de Vries, David Koolen, Tjitske Kleefstra, Seshika Ratwatte, Carlos Riveros, Steve Brain & Brian C. Lovell
BMC Biotechnology 17: 90 (2017)

The complexity of diagnosing sarcoma in a timely manner: perspectives of health professionals, patients, and carers in Australia
Rhys Weaver, Moira O’Connor, Richard Carey Smith & Georgia KB Halkett
BMC Health Services Research 20: 711 (2020)

Robust segmentation of lung in chest x-ray: applications in analysis of acute respiratory distress syndrome
Narathip Reamaroon, Michael W. Sjoding, Harm Derksen, Elyas Sabeti, Jonathan Gryak, Ryan P. Barbaro, Brian D. Athey & Kayvan Najarian
BMC Medical Imaging 20: 116 (2020)

Using automated electronic medical record data extraction to model ALS survival and progression
Alex G. Karanevich, Luke J. Weisbrod, Omar Jawdat, Richard J. Barohn, Byron J. Gajewski, Jianghua He & Jeffrey M. Statland
BMC Neurology 18: 205 (2018)

Diagnosis of Behçet’s disease: clinical characteristics, diagnostic criteria, and differential diagnoses
Mina Kiafar, Seyedeh Tahereh Faezi, Amir Kasaeian, Azarakhsh Baghdadi, Sahar Kakaei, Seyed Ali Mousavi, Mohammad Nejadhosseinian, Farhad Shahram, Seyedeh Zahra Ghodsi, Hormoz Shams & Fereydoun Davatchi
BMC Rheumatology 5: 2 (2021)

Ethics and guidelines

Model consent clauses for rare disease research
Minh Thu Nguyen, Jack Goldblatt, Rosario Isasi, Marlene Jagut, Anneliene Hechtelt Jonker, Petra Kaufmann, Laetitia Ouillade, Fruszina Molnar-Gabor, Mahsa Shabani, Eric Sid, Anne Marie Tassé, Durhane Wong-Rieger & Bartha Maria Knoppers on behalf of the IRDiRC-GA4GH Model Consent Clauses Task Force
BMC Medical Ethics 20: 55 (2019)

Strategies for eliciting and synthesizing evidence for guidelines in rare diseases
Menaka Pai, Cindy H. T. Yeung, Elie A. Akl, Andrea Darzi, Christopher Hillis, Kimberly Legault, Joerg J. Meerpohl, Nancy Santesso, Domenica Taruscio, Madeleine Verhovsek, Holger J. Schünemann & Alfonso Iorio
BMC Medical Research Methodology 19: 67 (2019)

Additional reading

BMC blogs on Rare diseases

Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics

Aida Catic, Lejla Gurbeta, Amina Kurtovic-Kozaric, Senad Mehmedbasic & Almir Badnjevic 
BMC Medical Genomics 11: 19 (2018)

Patient insights on living with idiopathic inflammatory myopathy and the limitations of disease activity measurement methods – a qualitative study
Alexander Oldroyd, William Dixon, Hector Chinoy & Kelly Howells
BMC Rheumatology 4: 47 (2020)

Goal attainment scaling as an outcome measure in rare disease trials: a conceptual proposal for validation
C. M. W. Gaasterland, M. C. Jansen van der Weide, K. C. B. Roes & J. H. van der Lee 
BMC Medical Research Methodology 19: 227 (2019)

Magnetic resonance imaging at 7.0 T for evaluation of early lesions of epiphyseal plate and epiphyseal end in a rat model of Kashin-Beck disease
Yong Li, Pengde Kang, Zongke Zhou, Fuxing Pei, Qing He & Dike Ruan 
BMC Musculoskeletal Disorders 21: 540 (2020)

First reported case of a collision tumor composed of pancreatic adenocarcinoma and retroperitoneal liposarcoma: a case report
Denise Buchner, Lena Hieggelke, Heike Löser, Christiane Josephine Bruns, Alexander Quaas & Markus Philipp Hussein Ghadimi 
BMC Cancer 18: 1243 (2018)

Genomic approaches to identifying targets for treating β hemoglobinopathies
Duyen A. Ngo & Martin H. Steinberg 
BMC Medical Genomics 8: 44 (2015)