Why rare disease diagnosis takes years in Europe and what shortens it: genomic sequencing, decision support, European Reference Networks and newborn screening.
The diagnostic odyssey is the years-long path of referrals, tests and misdiagnoses between a rare disease's first symptoms and a correct diagnosis. In Europe it is shortened by genomic sequencing, clinical decision support, referral into the 24 European Reference Networks, broader newborn screening and patient organisations, and lengthened by uneven access to specialists across countries and limited rare disease training in primary care.
Rare disease diagnosis in Europe still takes years for many families, and the search often begins long before anyone suspects a rare condition. Picture three illustrative cases, composites rather than real patients: a five-year-old in rural Romania whose symptoms baffle her paediatrician; a teenager in Portugal who bounces between specialists for six years before anyone connects the dots; a family in Finland who remortgage their home to travel abroad for a consultation that their local hospital can't provide. Such stories share a common thread with what patient surveys describe: the punishing delay between the onset of rare disease symptoms and an accurate diagnosis.
Across Europe, roughly 30 million people live with a rare disease, and the path from first symptoms to a confirmed diagnosis takes 4.7 years on average, according to a 2024 EURORDIS Rare Barometer study of 6,507 people in 41 European countries (Faye et al., 2024). Half of the respondents waited at least nine months and a quarter more than five years (Faye et al., 2024). The effort to shorten this diagnostic odyssey for rare diseases in Europe is not just a medical priority: it is a moral one. And while the challenge remains enormous, a combination of new technology, coordinated policy and patient-driven advocacy is beginning to change the equation in meaningful ways. This article is part of Ideogen's coverage of the orphan and rare disease landscape.
The term "diagnostic odyssey" isn't hyperbole. For families dealing with a rare or orphan disease, it describes a grinding cycle of misdiagnosis, referral and uncertainty that can consume years. The European Organisation for Rare Diseases (EURORDIS) has documented, in its Rare Barometer study, that 22% of patients consulted at least eight healthcare professionals when searching for a diagnosis and 73% were misdiagnosed at least once along the way (Faye et al., 2024). The delay comes mostly from the health system rather than from patients: on average about five months passed between first symptoms and first medical contact, and 4.3 years between first medical contact and a confirmed diagnosis, so the time spent in the health system accounted for 90% of the average total (Faye et al., 2024).
The Rare Barometer study in figures (Faye et al., 2024):
Part of the problem is sheer numbers: an analysis of the Orphanet database counted 6,172 distinct rare diseases, 71.9% of them genetic (Nguengang Wakap et al., 2020), many presenting with overlapping symptoms that mimic more common conditions. A child with Fabry disease might initially be told they have growing pains. An adult with Ehlers-Danlos syndrome might spend years being dismissed as "just hypermobile." The rarity of each individual condition means that most clinicians will never encounter it in their entire career, making pattern recognition almost impossible without specialised support. For the numbers behind these figures, see our overview of rare disease epidemiology.
The same geography that decides how long a diagnosis takes also decides what follows it. A medicine authorised in one country may not be authorised, or available, in the next. Ideogen runs the access routes that close that second gap for partners across Europe, MENA, CIS and 94 markets worldwide, in orphan and rare disease. Talk to our experts about bridging access to unmet need in orphan and rare disease, where earlier access changes patient outcomes, at [email protected].
The human cost of delayed diagnosis extends well beyond the clinic. Families frequently report financial hardship from repeated consultations, travel to distant specialists and lost working hours. In a 2017 EURORDIS Rare Barometer survey on care and daily life, 62% of carers spent more than two hours a day on illness-related tasks and 30% more than six hours, and 75% of respondents found the work of coordinating care, from finding information and the right professionals to arranging and travelling to appointments, time-consuming (EURORDIS-Rare Diseases Europe, 2017).
Mental health suffers too. The uncertainty of living without a diagnosis creates chronic anxiety, strained relationships and social isolation, and a systematic review found that parents of children with rare diseases have a lower quality of life than parents of healthy children and than population norms (Boettcher et al., 2021). Children miss school. Parents leave jobs. And because many rare diseases are progressive, every month without a diagnosis is a month without targeted treatment, potentially allowing irreversible damage to accumulate.
The economic burden on European healthcare systems is also significant: misdiagnosis leads to unnecessary tests, inappropriate treatments and emergency admissions that a timely diagnosis could have prevented. Among the Rare Barometer respondents who had been misdiagnosed, access to the most appropriate care was delayed for 68%, prevented for 59% and inappropriate for 52% (Faye et al., 2024). In the same study, people whose needs for financial and psychological support were met during their search had fewer diagnostic delays (Faye et al., 2024).
Europe's healthcare infrastructure is remarkably uneven, and specialist expertise is concentrated in relatively few places: the 24 European Reference Networks bring together 1,606 specialised centres in 375 hospitals across the EU and Norway (European Commission, n.d.-a). A patient who lives near one of those hospitals has very different options from one who has no local specialist for their condition at all. Genetic testing, a key route to diagnosis, is also being implemented at different rates across Europe, from countries with long-standing programmes that grant automatic access to others where it is still being deployed (Faye et al., 2024).
This geographic lottery does not follow the simple east-west gradient one might expect. In the Rare Barometer study, respondents living in Northern and Western Europe had about twice the odds of a diagnostic delay of those in Eastern, Central and Southern Europe. The authors suggest that better-equipped health systems may end more long searches, or diagnose a broader range of rare diseases, while in systems with lower investment patients may be diagnosed either fast or not at all, remaining undiagnosed (Faye et al., 2024). One explanation they offer is higher investment in diagnostic services in Northern and Western European countries (Faye et al., 2024). Within countries, the size of the city where respondents lived and their level of education did not predict diagnostic delay, in line with Spanish and French studies (Faye et al., 2024).
National registries show the same long waits. In Spain's rare diseases patient registry, 56.4% of 3,304 people had waited more than a year for their diagnosis, the threshold the International Rare Diseases Research Consortium uses to define diagnostic delay, although both the share of people delayed and the time to diagnosis fell significantly between 1960 and 2021 (Benito-Lozano et al., 2022).
General practitioners are the first point of contact for most patients, but rare disease education across Europe remains thin. A 2022 statement in the Orphanet Journal of Rare Diseases, based on a review of the literature, concluded that knowledge and awareness of rare diseases among current and future healthcare professionals is insufficient: most general practitioners and students rated their own knowledge poorly, and in one of the studies reviewed 80% of general practitioners found their academic training on rare diseases not useful or insufficient (Tumiene et al., 2022). In a European Reference Network survey of 146 respondents across 19 EU Member States, only 45% had a structured rare disease educational plan and only 36% a specific training programme for general practitioners (Tumiene et al., 2022).
This isn't a criticism of individual doctors: it's a systemic issue. When a GP sees a patient with vague, multi-system symptoms, their training naturally points towards common diagnoses. The classic medical school adage, "when you hear hoofbeats, think horses, not zebras," actively works against rare disease recognition. Without better training and decision-support tools embedded in primary care, many patients will continue to be caught in referral loops that go nowhere. The Rare Barometer authors draw the same conclusion: better rare disease knowledge in primary care and faster referral to centres of expertise and European Reference Networks should shorten the part of the delay spent in the health system (Faye et al., 2024). Our library of rare disease science for healthcare professionals is designed to support that kind of recognition.
Genomic sequencing has fundamentally changed what's possible in rare disease diagnosis. Whole exome sequencing (WES) and whole genome sequencing (WGS) can identify the genetic cause of a condition in a single test, sometimes ending diagnostic journeys that have lasted decades. In the pilot of England's 100,000 Genomes Project, which involved 4,660 participants from 2,183 families with 161 disorders, genome sequencing produced a genetic diagnosis for 25% of the probands; yields were 35% for disorders likely to have a single-gene cause, 11% for disorders likely to have a complex cause, and 40% to 55% for intellectual disability, hearing disorders and vision disorders (100,000 Genomes Project Pilot Investigators et al., 2021). A quarter of the diagnoses had immediate consequences for clinical decision-making for the patients or their relatives (100,000 Genomes Project Pilot Investigators et al., 2021).
The cost has dropped dramatically. In early 2010, sequencing a human genome cost roughly $47,000 in the data series of the US National Human Genome Research Institute, and by May 2022 the same series stood at $525 (Wetterstrand, 2023). Countries like the UK and France have built national genomic medicine programmes around sequencing. In the UK, the 100,000 Genomes Project run by Genomics England was designed to align genome sequencing for rare diseases with healthcare in the National Health Service (100,000 Genomes Project Pilot Investigators et al., 2021). In France, the Plan France Médecine Génomique 2025 organises access to genome sequencing through a list of pre-indications that expands over time, with dedicated medical biology laboratories, in a continuum between care and research (Plan France Médecine Génomique 2025, n.d.). Estonia has gone further, building a national biobank of more than 210,000 people, about 20% of its adult population, all of them genotyped and some fully sequenced, creating a resource that accelerates diagnosis and research simultaneously (University of Tartu, Institute of Genomics, n.d.).
Access to testing is still uneven at the point of care: in the Rare Barometer study, 23% of respondents perceived reluctance from doctors to prescribe a genetic test, and 90% of those who had a test despite that hesitation were diagnosed with a genetic condition (Faye et al., 2024).
The challenge now isn't cost: it's interpretation. A genome contains millions of variants, and distinguishing a disease-causing mutation from benign variation requires expert bioinformaticians and up-to-date variant databases. Shared platforms help: the RD-Connect Genome-Phenome Analysis Platform lets authorised clinicians and researchers submit pseudonymised clinical profiles and raw genomic data for shared analysis, and it has already helped diagnose hundreds of patients with rare diseases (Laurie et al., 2022). In the pan-European Solve-RD project, expert task forces systematically reanalysed exome and genome data from previously undiagnosed patients with rare neuromuscular and neurological diseases, and the framework significantly improved diagnostic yield in those cohorts (Wüstner et al., 2026). Building that interpretive capacity across all EU member states remains a work in progress.
Artificial intelligence is starting to fill some of the knowledge gaps that human clinicians can't reasonably be expected to cover. Some tools use facial recognition algorithms to flag potential genetic syndromes from a photograph, giving clinicians a starting point they might otherwise miss. In one study, a deep-learning framework trained on more than 17,000 images representing more than 200 syndromes listed the correct syndrome among its top ten suggestions for 91% of 502 test images (Gurovich et al., 2019). Natural language processing systems can scan electronic health records for symptom patterns that suggest a rare condition, flagging cases for specialist review.
Several European hospitals are piloting AI-assisted diagnostic platforms that cross-reference a patient's symptoms, lab results and family history against databases of thousands of rare diseases. These tools don't replace clinicians, but they act as a safety net, catching cases that might otherwise slip through the cracks.
The 24 European Reference Networks, launched in March 2017 (European Commission, n.d.-a), represent one of the EU's most ambitious healthcare coordination efforts. Each European Reference Network connects specialist centres across member states around a specific disease group, from rare bone disorders to rare neurological conditions. The networks have grown from 956 highly specialised healthcare units in 313 hospitals at launch to 1,606 specialised centres in 375 hospitals by October 2025, across the 27 Member States and Norway (European Commission, n.d.-a).
The diagnostic odyssey ends faster when the right patient reaches the right expert centre.
ERNs rest on the principle that many rare disease problems are pan-European and that no single Member State can solve them alone (Tumiene et al., 2021). They allow clinicians to present complex cases to virtual panels of experts from multiple countries, a model that brings expertise to patients in smaller nations without local specialists. The networks' secure online platform, the Clinical Patient Management System, launched in 2017, has been used to discuss more than 4,500 rare and complex clinical cases and was upgraded to a second version in 2024 (European Commission, n.d.-b). Referral matters: in the Rare Barometer study, being referred to a centre of expertise was associated with a lower risk of diagnostic delay (Faye et al., 2024). The networks also drive research, harmonise clinical guidelines and maintain patient registries that improve understanding of disease natural history.
Their biggest limitation is funding. A 2021 review by coordinators of several networks found that insufficient and unsustainable funding and a lack of ERN integration into national health systems still hamper their day-to-day work (Tumiene et al., 2021), and EU grants worth EUR 77.4 million support the networks over 2023 to 2027 (European Commission, n.d.-b).
Diagnosing rare diseases often requires pooling data from patients across multiple countries to identify patterns and validate genetic findings. The European Health Data Space (EHDS) Regulation was published on 5 March 2025, entered into force twenty days later and applies from 26 March 2027, with its rules on the secondary use of health data applying from 26 March 2029 (Regulation (EU) 2025/327). It aims to create a framework for secondary use of health data across the EU while respecting GDPR protections.
Progress has been uneven. Some countries, particularly the Nordics, already have well-structured health data registries that facilitate research. Others face technical barriers (incompatible electronic health record systems), legal uncertainty (varying national interpretations of GDPR) or cultural resistance to data sharing. For rare disease research specifically, initiatives like the RD-Connect Genome-Phenome Analysis Platform are working to create standardised, interoperable datasets that researchers can query across borders (Laurie et al., 2022). Getting this right is critical: with individual rare diseases affecting so few people, no single country has enough patients to power meaningful research alone.
Newborn screening differs across Europe because each national government decides which conditions to screen for, and expanding a panel needs both laboratory capacity and the clinical pathways to manage positive results.
Newborn screening is one of the most promising policy measures to reduce the diagnostic odyssey, because it can catch some rare diseases before symptoms appear (Koreimann-Özkan & Fernandes, 2026). But the number of conditions screened for varies widely across Europe. As of 2026, Italy screens for 46 conditions at birth, while only congenital hypothyroidism and phenylketonuria are included in every EU Member State's national panel; across the EU, national panels cover 87 different rare conditions, many of them screened in only one or two Member States (Koreimann-Özkan & Fernandes, 2026). An earlier survey by the International Society for Neonatal Screening, with data from 51 European countries, found that most programmes modernised and expanded their panels between 2010 and 2020, and that there were no policy recommendations for newborn screening at European level (Loeber et al., 2021).
The push towards a common approach has gained momentum, but implementation depends on national governments. The European Parliament's draft legislative-initiative report on an EU rare disease action plan calls for stronger measures to harmonise and promote newborn screening, and the declaration signed at the High-Level Meeting on Rare Diseases in December 2025 calls for Council Recommendations on newborn screening programmes (Koreimann-Özkan & Fernandes, 2026). Expanding newborn screening requires not just the laboratory infrastructure to run the tests but also the clinical pathways to manage positive results: genetic counselling, confirmatory testing and timely treatment initiation.
Adoption of newer tests remains uneven. Screening for spinal muscular atrophy entered US federal screening recommendations in 2018 and began as a pilot in five EU Member States the same year; since 2025 it has been part of the newborn screening programmes of 20 EU Member States, leaving seven, including Italy and Spain, without it in their national programmes (Koreimann-Özkan & Fernandes, 2026). In 2020, seven European countries screened routinely for severe combined immunodeficiency and six more ran pilot or regional programmes (Loeber et al., 2021).
Patient organisations help families connect symptoms and share experiences with specific specialists, and they push for research funding and better care coordination.
Patient organisations have been among the most effective forces driving change in rare disease policy across Europe. Groups like EURORDIS, which today brings together more than 1,000 patient organisations (EURORDIS-Rare Diseases Europe, n.d.), the Cystic Fibrosis Foundation and hundreds of disease-specific associations have pushed for research funding, faster regulatory approvals for orphan drugs and better care coordination.
These organisations also serve a direct diagnostic function. Online patient communities help families connect symptoms, share experiences with specific specialists and sometimes identify their own condition before a doctor does. The Undiagnosed Diseases Network International, founded after conferences in Rome in 2014 and Budapest in 2015 and modelled in part on the undiagnosed diseases programme of the US National Institutes of Health, has experts from Hungary and Italy on its board, treats active patient involvement as critical and gives a Patient Advisory Group a growing role (Taruscio et al., 2015). Advocacy groups have also been instrumental in ensuring that the patient voice is represented in ERN governance, clinical trial design and health technology assessments.
The trajectory is encouraging, even if the pace feels slow for families still waiting for answers. Genomic sequencing costs have fallen by orders of magnitude (Wetterstrand, 2023). AI diagnostic tools are maturing from research prototypes into clinical products. ERNs are expanding their reach, from 313 hospitals at launch to 375 by October 2025 (European Commission, n.d.-a), and the European Health Data Space promises to break down some of the data silos that have hampered research for decades (Regulation (EU) 2025/327). Genomic newborn screening is being tested too: the Generation Study in England will sequence the genomes of 100,000 newborn babies (Genomics England, n.d.), and in Puglia, in southern Italy, genomic screening for 597 conditions is offered free of charge to every newborn (Koreimann-Özkan & Fernandes, 2026).
But technology alone won't solve this. The most impactful changes will come from connecting existing resources more effectively: training primary care doctors to recognise red flags, integrating decision-support tools into routine clinical workflows, and ensuring that a patient's country of birth doesn't determine whether they get diagnosed in months or decades. Harmonising newborn screening across the EU is one such step: a February 2026 study for the European Parliament described newborn screening as one of the most promising policy measures to address and reduce the diagnostic odyssey (Koreimann-Özkan & Fernandes, 2026).
The period between the first symptoms of a rare disease and a correct diagnosis: typically years of referrals, tests and misdiagnoses.
Virtual networks of expert centres across EU countries, one per disease group, where clinicians can present complex cases to multinational expert panels (European Commission, n.d.-a).
Whole exome or whole genome sequencing can find the genetic cause of many rare diseases in a single test, ending searches that have lasted years (100,000 Genomes Project Pilot Investigators et al., 2021).
A name does not guarantee a treatment. Where a medicine exists, it may not be authorised or available in the patient’s country, and the route to it is set nationally. Early access, compassionate use and named patient supply are the mechanisms that close that second gap. Ideogen operates them for partners across Europe, MENA, CIS and 94 markets worldwide. Talk to our experts about bridging access to unmet need in orphan and rare disease, where earlier access changes patient outcomes, at [email protected].
For clinicians, researchers, policymakers and families affected by rare diseases, the goal is the same: make the diagnostic journey shorter, less painful and more equitable. Europe has the scientific infrastructure, the collaborative frameworks and the political will to make real progress. The question now is whether those pieces come together fast enough for the millions of people still searching for a name for what ails them.
100,000 Genomes Project Pilot Investigators, Smedley, D., Smith, K. R., Martin, A., Thomas, E. A., McDonagh, E. M., Cipriani, V., Ellingford, J. M., Arno, G., Tucci, A., Vandrovcova, J., Chan, G., Williams, H. J., Ratnaike, T., Wei, W., Stirrups, K., Ibanez, K., Moutsianas, L., Wielscher, M., . . . Caulfield, M. (2021). 100,000 Genomes pilot on rare-disease diagnosis in health care: Preliminary report. The New England Journal of Medicine, 385(20), 1868-1880. https://doi.org/10.1056/NEJMoa2035790
Benito-Lozano, J., López-Villalba, B., Arias-Merino, G., Posada de la Paz, M., & Alonso-Ferreira, V. (2022). Diagnostic delay in rare diseases: Data from the Spanish rare diseases patient registry. Orphanet Journal of Rare Diseases, 17(1), Article 418. https://doi.org/10.1186/s13023-022-02530-3
Boettcher, J., Boettcher, M., Wiegand-Grefe, S., & Zapf, H. (2021). Being the pillar for children with rare diseases-A systematic review on parental quality of life. International Journal of Environmental Research and Public Health, 18(9), Article 4993. https://doi.org/10.3390/ijerph18094993
European Commission. (n.d.-a). European Reference Networks. Retrieved October 4, 2026, from https://health.ec.europa.eu/rare-diseases-and-european-reference-networks/european-reference-networks_en
European Commission. (n.d.-b). Work of the ERNs. Retrieved October 4, 2026, from https://health.ec.europa.eu/rare-diseases-and-european-reference-networks/european-reference-networks/work-erns_en
EURORDIS-Rare Diseases Europe. (2017, May). Juggling care and daily life: The balancing act of the rare disease community. A Rare Barometer survey. https://download2.eurordis.org/rbv/2017_05_09_Social%20survey%20leaflet%20final.pdf
EURORDIS-Rare Diseases Europe. (n.d.). EURORDIS-Rare Diseases Europe. Retrieved October 4, 2026, from https://www.eurordis.org/
Faye, F., Crocione, C., Anido de Peña, R., Bellagambi, S., Escati Peñaloza, L., Hunter, A., Jensen, L., Oosterwijk, C., Schoeters, E., de Vicente, D., Faivre, L., Wilbur, M., Le Cam, Y., & Dubief, J. (2024). Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: Results of a Rare Barometer retrospective patient survey. European Journal of Human Genetics, 32(9), 1116-1126. https://doi.org/10.1038/s41431-024-01604-z
Genomics England. (n.d.). Newborn Genomes Programme. Retrieved October 5, 2026, from https://www.genomicsengland.co.uk/initiatives/newborns
Gurovich, Y., Hanani, Y., Bar, O., Nadav, G., Fleischer, N., Gelbman, D., Basel-Salmon, L., Krawitz, P. M., Kamphausen, S. B., Zenker, M., Bird, L. M., & Gripp, K. W. (2019). Identifying facial phenotypes of genetic disorders using deep learning. Nature Medicine, 25(1), 60-64. https://doi.org/10.1038/s41591-018-0279-0
Koreimann-Özkan, C., & Fernandes, M. (2026, March). What if the EU had guidelines for newborn screening? (PE 774.727). European Parliamentary Research Service. https://www.europarl.europa.eu/RegData/etudes/BRIE/2026/774727/EPRS_BRI(2026)774727_EN.pdf
Laurie, S., Piscia, D., Matalonga, L., Corvó, A., Fernández-Callejo, M., Garcia-Linares, C., Hernandez-Ferrer, C., Luengo, C., Martínez, I., Papakonstantinou, A., Picó-Amador, D., Protasio, J., Thompson, R., Tonda, R., Bayés, M., Bullich, G., Camps-Puchadas, J., Paramonov, I., Trotta, J. R., . . . Beltran, S. (2022). The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Human Mutation, 43(6), 717-733. https://doi.org/10.1002/humu.24353
Loeber, J. G., Platis, D., Zetterström, R. H., Almashanu, S., Boemer, F., Bonham, J. R., Borde, P., Brincat, I., Cheillan, D., Dekkers, E., Dimitrov, D., Fingerhut, R., Franzson, L., Groselj, U., Hougaard, D., Knapkova, M., Kocova, M., Kotori, V., Kozich, V., . . . Schielen, P. C. J. I. (2021). Neonatal screening in Europe revisited: An ISNS perspective on the current state and developments since 2010. International Journal of Neonatal Screening, 7(1), Article 15. https://doi.org/10.3390/ijns7010015
Nguengang Wakap, S., Lambert, D. M., Olry, A., Rodwell, C., Gueydan, C., Lanneau, V., Murphy, D., Le Cam, Y., & Rath, A. (2020). Estimating cumulative point prevalence of rare diseases: Analysis of the Orphanet database. European Journal of Human Genetics, 28(2), 165-173. https://doi.org/10.1038/s41431-019-0508-0
Plan France Médecine Génomique 2025. (n.d.). Plan France Médecine Génomique 2025. Retrieved October 5, 2026, from https://pfmg2025.fr/
Regulation (EU) 2025/327 of the European Parliament and of the Council of 11 February 2025 on the European Health Data Space and amending Directive 2011/24/EU and Regulation (EU) 2024/2847. (2025). Official Journal of the European Union, L, 2025/327. https://eur-lex.europa.eu/eli/reg/2025/327/oj
Taruscio, D., Groft, S. C., Cederroth, H., Melegh, B., Lasko, P., Kosaki, K., Baynam, G., McCray, A., & Gahl, W. A. (2015). Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs. Molecular Genetics and Metabolism, 116(4), 223-225. https://doi.org/10.1016/j.ymgme.2015.11.003
Tumiene, B., Graessner, H., Mathijssen, I. M., Pereira, A. M., Schaefer, F., Scarpa, M., Blay, J.-Y., Dollfus, H., & Hoogerbrugge, N. (2021). European Reference Networks: Challenges and opportunities. Journal of Community Genetics, 12(2), 217-229. https://doi.org/10.1007/s12687-021-00521-8
Tumiene, B., Peters, H., Melegh, B., Peterlin, B., Utkus, A., Fatkulina, N., Pfliegler, G., Graessner, H., Hermanns, S., Scarpa, M., Blay, J.-Y., Ashton, S., McKay, L., & Baynam, G. (2022). Rare disease education in Europe and beyond: Time to act. Orphanet Journal of Rare Diseases, 17(1), Article 441. https://doi.org/10.1186/s13023-022-02527-y
University of Tartu, Institute of Genomics. (n.d.). Estonian Biobank. Retrieved October 4, 2026, from https://genomics.ut.ee/en/content/estonian-biobank
Wetterstrand, K. A. (2023, May 16). DNA sequencing costs: Data. National Human Genome Research Institute. https://www.genome.gov/about-genomics/fact-sheets/DNA-Sequencing-Costs-Data
Wüstner, L.-S., Ellwanger, K., Schuermans, N., Demidov, G., Polavarapu, K., Matalonga, L., Laurie, S., Solve-RD DITF-RND, Solve-RD DITF-EURO-NMD, Töpf, A., Lohmann, K., & Graessner, H. (2026). Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research framework. Journal of Neuromuscular Diseases. Advance online publication. https://doi.org/10.1177/22143602261460689
