Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye

Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye

IntroductionDiagnosis, treatment and management of rare diseases (RD) pose unique challenges due to their complex nature, significantly impacting the daily experiences of researchers and healthcare professionals working in this field. Despite increasing awareness and progress in the field of RD worl...

Full description

Saved in:

Bibliographic Details
Main Authors:	Sinem Durmus, Emrah Yucesan, Sinem Aktug, Begum Utz, Ahmet Okay Caglayan, Pinar Gencpinar, Cagatay Günay, Yavuz Oktay, Ravza Nur Yildirim, Ayca Yigit, Ugur Ozbek
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2025-01-01
Series:	Frontiers in Public Health
Subjects:	RareBoost rare disease survey Türkiye undiagnosed disease unmet needs
Online Access:	https://www.frontiersin.org/articles/10.3389/fpubh.2024.1501942/full
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing
by: Jeong-Min Kim, et al.
Published: (2025-01-01)

Decomposing the Poor-Non-Poor Gap in the Prevalence of Undiagnosed and Untreated Hypertension Among Bangladeshi Population
by: Mosiur Rahman, et al.
Published: (2024-12-01)

The advantages of rare disease biobanking: A localised source of genetic knowledge to benefit the South African rare disease community and related stakeholders worldwide
by: M Dercksen, et al.
Published: (2023-12-01)

Fabry disease – what a gastroenterologist should know
by: Alicja Rydzewska-Rosołowska, et al.
Published: (2023-12-01)

Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis
by: Judith Giroud-Gerbetant, et al.
Published: (2025-01-01)

A proof-of-concept study of extracting patient histories for rare/intractable diseases from social media
by: Atsuko Yamaguchi, et al.
Published: (2020-06-01)

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, et al.
Published: (2025-01-01)

Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths
by: Lingyun Zhang, et al.
Published: (2025-01-01)

Informatics Consideration on the Hierarchical System of Rare Diseases Clinical Care in China
by: GONG Mengchun, et al.
Published: (2024-10-01)

Let’s not Miss the Opportunity to Improve Rare Disease Reporting Through ICD-11 Implementation
by: Miroslav ZVOLSKÝ, et al.
Published: (2024-11-01)

Stress and anxiety among caregivers of adult patients with Niemann-Pick Type C disease
by: Izabela Dawidowska-Nowak, et al.
Published: (2024-12-01)

A collaborative network analysis for the interpretation of transcriptomics data in Huntington’s disease
by: Ozan Ozisik, et al.
Published: (2025-01-01)

Epigene functional diversity: isoform usage, disordered domain content, and variable binding partners
by: Leroy Bondhus, et al.
Published: (2025-02-01)

Effect of individual health perception, health consultation, and other risk factors on undiagnosed hypertension in South Africa
by: Muchiri E. Wandai, et al.
Published: (2025-01-01)

Is It Time Alpha-1 Antitrypsin Deficiency Had a Specific Patient Reported Outcome Measure? A Review
by: De Soyza J, et al.
Published: (2025-01-01)

Parathyroid carcinoma and pheochromocytoma in a patient with neurofibromatosis type 1: a rare association
by: Jardelina Brena Rocha Leite, et al.
Published: (2025-02-01)

Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases
by: Jaemoon Shin, et al.
Published: (2025-02-01)

The impact of COVID-19 on patients affected by rare diseases and congenital disorders in South Africa: A scoping review
by: M C M Gomes, et al.
Published: (2024-09-01)

Alström syndrome: the journey to diagnosis
by: Akshat Sinha, et al.
Published: (2025-01-01)

Reform and Development of Rare Diseases Drug Evaluation and Approval in China
by: HUANG Guo, et al.
Published: (2024-10-01)

Choosing preferable labels for the Japanese translation of the Human Phenotype Ontology
by: Kota Ninomiya, et al.
Published: (2020-06-01)

The parental care-seeking behavior of children with osteogenesis imperfecta based on the Anderson’s model: a qualitative study
by: Lin Mo, et al.
Published: (2025-01-01)

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients
by: Lane Fitzsimmons, et al.
Published: (2025-01-01)

Disproportionate adverse event signals of selumetinib in neurofibromatosis type I: insights from FAERS
by: Lin Li
Published: (2025-01-01)

A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles
by: Joost Groen, et al.
Published: (2025-01-01)

Community-acquired lower respiratory tract infection due to Serratia rubidaea: A rare and opportunistic pathogen
by: Peetam Singh, et al.
Published: (2025-01-01)

Search for the Higgs boson decays to a ρ0, ϕ, or K⁎0 meson and a photon in proton-proton collisions at s=13TeV
by: A. Hayrapetyan, et al.
Published: (2025-03-01)

Polyurethane and rare-earth materials: a review
by: Guilherme Manassés Pegoraro, et al.
Published: (2023-04-01)

Higher twist corrections to doubly-charmed baryonic B decays
by: Zhou Rui, et al.
Published: (2024-12-01)

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing
by: Thomas Cassini, et al.
Published: (2025-01-01)

Anesthesia and Uncommon Diseases : Pathophysiologic and Clinical Correlations /
by: Katz, Jordan
Published: (1981)

Human-based complex in vitro models: their promise and potential for rare disease therapeutics
by: Surat Parvatam, et al.
Published: (2025-01-01)

The application of the facial analysis program Face2Gene in a single genetic counseling center: a retrospective study
by: Dinnar Yahya, et al.
Published: (2025-01-01)

A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review
by: ZHAO Min, et al.
Published: (2024-10-01)

Deep learning helps discriminate between autoimmune hepatitis and primary biliary cholangitis
by: Alessio Gerussi, et al.
Published: (2025-02-01)

Drug repurposing screen for the rare disease ataxia-telangiectasia
by: Namrata Jayanth, et al.
Published: (2025-01-01)

Editorial: Consanguinity and rare genetic neurological diseases
by: Suzanne Lesage, et al.
Published: (2025-02-01)

Reversal gene expression assessment for drug repurposing, a case study of glioblastoma
by: Shixue Sun, et al.
Published: (2025-01-01)

A case report of comprehensive treatment for primary intraspinal carcinosarcoma
by: Chang Yan, et al.
Published: (2025-01-01)

``Prenatally diagnosed gastroschisis: A case report''
by: Sakshi Dudhe, MBBS, et al.
Published: (2025-03-01)