Next-generation sequencing (NGS) has paved the way for a remarkable global surge in discovery and research in the field of genomics, and particularly on rare disease. Rare genetic conditions pose a significant burden on individuals and families, and such research efforts offer a glimmer of hope for the discovery of novel therapies and definitive diagnoses for such patients, ending their long and often painful diagnostic odysseys.

Rare diseases are defined as those that affect fewer than 1 in 2,000 individuals in the general population. The majority of rare disease are assumed to stem from a genetic cause and affect children, with around 7,000 different rare disease entities identified to date.[3]

In honor of Rare Disease Day, we analyzed a sample of articles published in genomics publications in 2018. We wanted to know what percentage of genomics research was contributing to our understanding of rare diseases. We also looked at the areas that were attracting more research focus and the breakdown of inheritance modes in the researched diseases.

Here’s a visual summary of our analysis:

raredisease data pr

Neurodevelopmental disorders were the most prominent disease category, making up 16.8% of the articles identified in 2018. These disorders are a cause of significant burden on families and make for a prominent public health issue. Much of the clinical research on exome and whole genome sequencing has been conducted on patients with neurodevelopmental disorders, as these often have a complex genetic etiology.

Research on metabolic disease comprised 8.9% of the publications we identified in genomic journals in 2018. Inherited metabolic disorders are a group of rare and heterogeneous diseases that collectively account for a significant portion of all inherited disease with their prevalence estimated at <1000 live births. The use of next-generation sequencing in neonates has become a hot topic in the last year, as initial results of the BabySeq project were published as well as additional initiatives calling for rapid sequencing in neonatal intensive care units (NICU). Such efforts may significantly accelerate diagnosis and discovery of metabolic disorders which are missing in newborn metabolic screening programs.

Our survey interestingly revealed that much of the research in 2018 focused on myopathies and other rare disorders affecting the musculature. Duchenne and Becker muscular dystrophies are the two most prominent inherited muscular dystrophies with an estimated prevalence of 1.38 per 10,000 in the United States. Despite their prevalence, they accounted for 8.7% of research articles dealing with rare-disease, nearly equaling the number of publications regarding metabolic disease.

Our literature survey also revealed that autosomal recessive and autosomal dominant disease were almost equally prevalent in genomic research articles, accounting for 43.3% and 45.7% of publications discussing rare-disease entities. X-linked disorders accounted for approximately 10% of rare-disease publications in the genomic literature.


  1. Park KJ, Park S, Lee E, Park JH, Park JH, Park HD, Lee SY, Kim JW. A population-based genomic study of inherited metabolic diseases detected through newborn screening. Annals of laboratory medicine. 2016 Nov 1;36(6):561-72.
  2. Sanderson S, Green A, Preece MA, Burton H. The incidence of inherited metabolic disorders in the West Midlands, UK. Archives of disease in childhood. 2006 Nov 1;91(11):896-9.
  3. Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Timothy WY, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. The American Journal of Human Genetics. 2019 Jan 3;104(1):76-93.
  4. Petrikin JE, Cakici JA, Clark MM, Willig LK, Sweeney NM, Farrow EG, Saunders CJ, Thiffault I, Miller NA, Zellmer L, Herd SM. The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants. NPJ genomic medicine. 2018 Feb 9;3(1):6.
  5. Farnaes L, Hildreth A, Sweeney NM, Clark MM, Chowdhury S, Nahas S, Cakici JA, Benson W, Kaplan RH, Kronick R, Bainbridge MN. Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. NPJ genomic medicine. 2018 Apr 4;3(1):10.
  6. Arora NK, Nair MK, Gulati S, Deshmukh V, Mohapatra A, Mishra D, Patel V, Pandey RM, Das BC, Divan G, Murthy GV. Neurodevelopmental disorders in children aged 2–9 years: Population-based burden estimates across five regions in India. PLoS medicine. 2018 Jul 24;15(7):e1002615.
    Gonzaludo N, Belmont JW, Gainullin VG, Taft RJ. Estimating the burden and economic impact of pediatric genetic disease. Genetics in Medicine. 2018 Dec 20:1.
  7. Bardakjian TM, Helbig I, Quinn C, Elman LB, McCluskey LF, Scherer SS, Gonzalez-Alegre P. Genetic test utilization and diagnostic yield in adult patients with neurological disorders. neurogenetics. 2018 May 1:1-6.
  8. Romitti PA, Zhu Y, Puzhankara S, James KA, Nabukera SK, Zamba GK, Ciafaloni E, Cunniff C, Druschel CM, Mathews KD, Matthews DJ. Prevalence of Duchenne and Becker muscular dystrophies in the United States. Pediatrics. 2015 Mar 1;135(3):513-21.
  9. Wright CF, FitzPatrick DR, Firth HV. Paediatric genomics: diagnosing rare disease in children. Nature Reviews Genetics. 2018 May;19(5):253.
  10. Dawkins HJ, Draghia‐Akli R, Lasko P, Lau LP, Jonker AH, Cutillo CM, Rath A, Boycott KM, Baynam G, Lochmüller H, Kaufmann P. Progress in rare diseases research 2010–2016: an IRDiRC perspective. Clinical and translational science. 2018 Jan;11(1):11-20.
  11. Austin CP, Cutillo CM, Lau LP, Jonker AH, Rath A, Julkowska D, Thomson D, Terry SF, de Montleau B, Ardigò D, Hivert V. Future of rare diseases research 2017–2027: an IRDiRC perspective. Clinical and translational science. 2018 Jan;11(1):21-7.
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