The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

Molecular Genetics and Metabolism

Volumn 117, Issue 4, 2016, Pages 393-400

  Gahl, William A ^a   Mulvihill, John J ^a,b   Toro, Camilo ^a   Markello, Thomas C ^a   Wise, Anastasia L ^a   Ramoni, Rachel B ^c   Adams, David R ^a   Tifft, Cynthia J ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Exome sequencing; Interdisciplinary research; Precision medicine; Undiagnosed and rare diseases

Indexed keywords

LAMIN;

ARTERY CALCIFICATION; CHILDHOOD DISEASE; CLINICAL PRACTICE; CONSANGUINEOUS MARRIAGE; CONSANGUINITY; DISEASE ASSESSMENT; DRUG RESISTANT EPILEPSY; EXOME; GENE SEQUENCE; GENETIC DISORDER; HUMAN; IN VITRO STUDY; MICROARRAY ANALYSIS; NATIONAL HEALTH ORGANIZATION; NEPHROLITHIASIS; NONHUMAN; NOTE; OSTEOPOROSIS; PATIENT CARE; PERSONALIZED MEDICINE; PRIORITY JOURNAL; RARE DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM; UNDIAGNOSED DISEASES PROGRAM; VIRUS INFECTION; PROCEDURES; RARE DISEASES; RESEARCH; UNITED STATES;

HUMANS; NATIONAL INSTITUTES OF HEALTH (U.S.); PRECISION MEDICINE; RARE DISEASES; RESEARCH; UNITED STATES;

EID: 84956643608     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2016.01.007     Document Type: Note

References (61)

1. [1] Gahl, W.A., Tifft, C.J., The NIH Undiagnosed Diseases Program: lessons learned. JAMA 305 (2011), 1904–1905.
2. [2] Gahl, W.A., Markello, T.C., Toro, C., et al. The NIH Undiagnosed Diseases Program: insights into rare diseases. Genet. Med. 14 (2012), 51–59.
3. [3] Tifft, C.J., Adams, D.R., The National Institutes of Health Undiagnosed Diseases Program. Curr. Opin. Pediatr. 26 (2014), 626–633.
4. [4] Collins, F.S., Varmus, H., A new initiative on precision medicine. N. Engl. J. Med. 372 (2015), 793–795.
5. [5] Gahl, W., Wise, A., Ashley, E.A., The Undiagnosed Diseases Network of the NIH: a national extension. JAMA 314 (2015), 1797–1798.
6. [6] Bone, W.P., Washington, B.O.J., et al. Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. Genet. Med., 2015 Nov 12, 10.1038/gim.2015.137.
7. [7] St. Hilaire, C., Ziegler, S.G., Markello, T., et al. NT5E mutations and arterial calcifications. N. Engl. J. Med. 364 (2011), 432–442.
8. [8] Pierson, T.M., Tart, G., Adams, D., et al. Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man. Neuromuscul. Disord. 21 (2011), 353–355.
9. [9] Pierson, T.M., Adams, D., Bonn, F., et al. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet., 7(10), 2011, Oct, e1002325.
10. [10] Pierson, T.M., Simeonov, D.R., Sincan, M., et al. Exome sequencing and SNP analysis detect heterozygosity in fatty acid hydroxylase-associated neurodegeneration. Eur. J. Hum. Genet. 20 (2012), 476–479.
11. [11] Schiffenbauer, A.I., Wahl, C., Pittaluga, S., et al. IgG4-related disease presenting as recurrent mastoiditis. Laryngoscope 122 (2012), 681–684.
12. [12] Pierson, T.M., Adams, D.A., Markello, T., et al. Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis. Neurology 79 (2012), 123–126.
13. [13] Vanderver, A., Tonduti, D., Auerbach, S., et al. Neurotransmitter abnormalities and response to supplementation in SPG11. Mol. Genet. Metab. 107 (2012), 229–233.
14. 2D-24 hydroxylase (CYP24A1) deficiency as a cause of nephrolithiasis. Clin. J. Am. Soc. Nephrol. 8 (2013), 649–657.
15. [15] Holloman, C.M., Wolfe, L.A., Gahl, W.A., Boerkoel, C.F., Kearns-Sayre syndrome presenting as isolated growth failure. BMJ Case Rep., 2013 (pii: bcr2012007272).
16. [16] Dias, C., McDonald, A., Sincan, M., et al. Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. Eur. J. Hum. Genet. 21 (2013), 1232–1239.
17. [17] Pierson, T.M., Markello, T., Accardi, J., et al. Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Neuromuscul. Disord. 23 (2013), 483–488.
18. [18] Manoli, I., Kwan, J.Y., Wang, Q., et al. Chronic myopathy due to immunoglobulin light chain amyloidosis. Mol. Genet. Metab. 108 (2013), 249–254.
19. [19] Giorgio, E., Rolyan, H., Kropp, L., et al. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Hum. Mutat. 34 (2013), 1160–1171.
20. [20] Brady, J., Trehan, A., Landis, D., Toro, C., Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioral disorder. BMJ Case Rep., 2013, 2013 May 8 (pii: bcr2013009592).
21. [21] Landouré, G., Zhu, P.-P., Lourenco, C.M., et al. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Hum. Mutat. 34 (2013), 1357–1360.
22. [22] Wu, Y.W., Hess, C.P., Singhal, N.S., Groden, C., Toro, C., Idiopathic basal ganglia calcifications: an atypical presentation of PKAN. Pediatr. Neurol. 49 (2013), 351–354.
23. [23] Lim, Y.H., Ovejero, D., Sugarman, J.S., et al. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23, and hypophosphatemia. Hum. Mol. Genet. 23 (2014), 397–407.
24. [24] Yuan, H., Hansen, K.B., Zhang, J., et al. Functional analysis of a missense mutation associated with early-onset epileptic encephalopathy. Nat. Commun., 5, 2014, 3251.
25. [25] Rice, G.I., del Toro, D.Y., Jenkinson, E.M., et al. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat. Genet. 46 (2014), 503–509.
26. [26] Sadat, M.A., Moir, S., Chun, T.-W., et al. Glycosylation hypogammaglobulinemia, and resistance to viral infections. N. Engl. J. Med. 370 (2014), 1615–1625.
27. [27] Pierson, T.M., Yuan, H., Marsh, E.D., et al. GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. Ann. Clin. Transl. Neurol. 1 (2014), 190–198.
28. [28] Adams, D.R., Yuan, H., Holyoak, T., et al. Three rare diseases in one sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. Mol. Genet. Metab. 113 (2014), 161–170.
29. [29] Shehata, L., Simeonov, D.R., Raams, A., et al. ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination. Am. J. Med. Genet. A 164 (2014), 2892–2900.
30. [30] Wolf, N.I., Toro, C., Kister, I., et al. DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. Neurology 84 (2015), 226–230.
31. [31] Markello, T., Chen, D., Kwan, J.Y., et al. York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. Mol. Genet. Metab. 114 (2015), 474–482.
32. [32] Ng, B.C., Wolfe, L.A., Ichikawa, M., et al. Biallelic mutations in CAD impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. Hum. Mol. Genet. 24 (2015), 3050–3057.
33. [33] Simons, C., Griffin, L.B., Helman, G., et al. Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. Am. J. Hum. Genet. 96 (2015), 675–681.
34. [34] Trehan, A., Brady, J.M., Golas, G.A., et al. MED23-associated intellectual disability in a non-consanguineous family. Am. J. Med. Genet. A 167 (2015), 1374–1380.
35. [35] Albert, J.S., Bhattacharyya, N., Wolfe, L.A., Bone, W., et al. Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder-Robinson syndrome. Orphanet J. Rare Dis., 10, 2015 Mar 7, 27.
36. [36] Lam, C., Golas, G.A., Davids, M., et al. Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. Mol. Genet. Metab. 115 (2015), 128–140.
37. [37] Marchegiani, S., Davis, T., Tessadori, F., et al. Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes. Am. J. Hum. Genet. 97 (2015), 99–110.
38. [38] Janecke, A.R., Li, B., Boehm, M., et al. The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. Am. J. Med. Genet. A, 2015 Sep 16, 10.1002/ajmg.a.37383.
39. [39] Pegg, A.E., Michael, A.J., Spermine synthase. Cell. Mol. Life Sci. 67 (2010), 113–121.
40. [40] Snyder, R.D., Robinson, A., Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family. Clin. Pediatr. 8 (1969), 669–674.
41. [41] Albert, J., Schwartz, C.E., Boerkoel, C.F., Stevenson, R.E., Pagon, R.A., Adam, M.P., Ardinger, H.H., et al. (eds.) Snyder-Robinson Syndrome, 1993-2015, GeneReviews®, Seattle (WA) (Available from: http://www.ncbi.nlm.nih.gov/books/NBK144284/).
42. 2-Src-NFATc1 signaling pathways. Amino Acids 46 (2014), 2605–2614.
43. [43] Yamamoto, T., Hinoi, E., Fujita, H., et al. The natural polyamine spermidine and spermine prevent bone loss through preferential disruption of osteoclastic activation in ovariectomized mice. Br. J. Pharmacol. 166 (2012), 1084–1096.
44. [44] Kusudo, T., Sakaki, T., Abe, D., et al. Metabolism of A-ring diastereomers of 1α,25-dihydroxyvitamin D3 by CYP24A1. Biochem. Biophys. Res. Commun. 321 (2004), 774–782.
45. [45] DePraeter, C.M., Gerwig, G.J., Bause, E., et al. A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency. Am. J. Hum. Genet. 66 (2000), 1744–1756.
46. [46] Yang, Y., Zhang, J., Chang, Q., et al. De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. Cell Res. 24 (2014), 1370–1373.
47. [47] Green, P., Wiseman, M., Crow, Y.J., et al. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C20orf54. Am. J. Hum. Genet. 86 (2010), 485–489.
48. [48] Enns, G.M., Kinsman, S.L., Perlman, S.L., et al. Initial experience in the treatment of inherited mitochondrial disease with EPI-743. Mol. Genet. Metab. 105 (2012), 91–102.
49. [49] Sadun, A.A., Chicani, F., Ross-Cisneros, F.N., et al. Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy. Arch. Neurol. 69 (2012), 331–338.
50. [50] Slager, R.E., Newton, T.L., Vlangos, C.N., Finucane, B., Elsea, S.H., Mutations in RAI1 associated with Smith-Magenis syndrome. Nat. Genet. 33 (2003), 466–468.
51. [51] Endele, S., Rosenberger, G., Geider, K., et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neuro-developmental phenotypes. Nat. Genet. 42 (2010), 1021–1026.
52. [52] Markello, T.C., Pak, L.K., St Hilaire, C., et al. Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum. Mol. Genet. Metab. 103 (2011), 44–50.
53. [53] McCullough, P.A., Agrawal, V., Danielewicz, E., Abela, G.S., Accelerated atherosclerotic calcification and Mönckeberg's sclerosis: a continuum of advanced vascular pathology in chronic kidney disease. Clin. J. Am. Soc. Nephrol. 3 (2008), 1585–1598.
54. [54] Padiath, Q.S., Saigoh, K., Schiffmann, R., et al. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat. Genet. 38 (2006), 1114–1123.
55. [55] Rankin, J., Ellard, S., The laminopathies: a clinical review. Clin. Genet. 70 (2006), 261–274.
56. [56] Capell, B.C., Collins, F.S., Human laminopathies: nuclei gone genetically awry. Nat. Rev. Genet. 7 (2006), 940–952.
57. [57] Rolyan, H., Tyurina, Y.Y., Hernandez, M., Defects of lipid synthesis are linked to the age-dependent demyelination caused by lamin B1 overexpression. J. Neurosci. 35 (2015), 12002–12017.
58. [58] EpiPM Consortium, A roadmap for precision medicine in the epilepsies. Lancet Neurol. 14 (2015), 1219–1228.
59. [59] Topaz, O., Shurman, D.L., Bergman, R., et al. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat. Genet. 36 (2004), 579–581.
60. [60] Bloss, C.S., Scott-Van Zeeland, A.A., Topol, S.E., et al. A genome sequencing program for novel undiagnosed diseases. Genet. Med. 17 (2015), 995–1001.
61. [61] Taruscio, D., Groft, S.C., Cederroth, H., et al. Undiagnosed Diseases Network International (UDNI): white paper for global actions to meet patient needs. Mol. Genet. Metab. 116 (2015), 223–225.