Jessica Lacoste from the Donnelly Centre at the University of Toronto was awarded best poster at the annual Society of Biomolecular Imaging and Informatics meeting held in San Diego, September 2017. Her work focuses on characterizing the protein localization of variants involved in rare disease. The current works and future directions of research in rare disease are summarized in the following overview.
Get full access to this article
View all access options for this article.
References
1.
National Institutes of Health: FAQs About Rare Diseases. https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases (Last accessed on October18, 2017).
2.
YoonPW, OlneyRS, KhouryMJ, et al.: Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study. Arch Pediatr Adolesc Med, 1997; 151:1096–1103.
3.
McCandlessSE, BrungerJW, CassidySB: The burden of genetic disease on inpatient care in a children's hospital. Am J Hum Genet, 2004; 74:121–127.
4.
DyeDE, BrameldKJ, MaxwellS, et al.: The impact of single gene and chromosomal disorders on hospital admissions of children and adolescents: a population-based study. Public Health Genomics, 2010; 14:153–161.
5.
ChristiansonA, HowsonCP, ModellB: March of Dimes Birth Defects Foundation. 2006. https://www.marchofdimes.org/materials/global-report-on-birth-defects-the-hidden-toll-of-dying-and-disabled-children-full-report.pdf (Last accessed on October18, 2017).
6.
AngelisA, TordrupD, KanavosP: Socio-economic burden of rare diseases: a systematic review of cost of illness evidence. Health Policy, 2015; 119:964–979.
7.
BoycottKM, VanstoneMR, BulmanDE, et al.: Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet, 2013; 14:681–691.
8.
BraunMM, Farag-El-MassahS, XuK, et al.: Emergence of orphan drugs in the United States: a quantitative assessment of the first 25 years. Nat Rev Drug Discov, 2010; 9:519–522.
9.
PaulSM, MytelkaDS, DunwiddleCT, et al.: How to improve R&D productivity: the pharmaceutical industry's grand challenge. Nat Rev Drug Discov, 2010; 3:203–214.
10.
Cutting Edge Information: Pharmaceutical Product Relaunch: Preserving Market Share through Line Extension and New Market Entry Strategies. April1, 2007. https://www.cuttingedgeinfo.com/preview/pharmaceutical-product-relaunch-data/?wpdmdl=36632&_wpdmkey=5a4446eb034bb&refresh=5a4446eb0663a1514424043 (Last accessed December27, 2017).
11.
AshburnTT, ThorKB: Drug repositioning: identifying and developing new uses for existing drugs. Nat Rev Drug Discov, 2004; 3:673–683.
12.
GordonLB, KleinmanME, MillerDT, et al.: Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A, 2012; 109:16666–16671.
13.
KaufmanAC, SalazarSV, HaasLT, et al.: Fyn inhibition rescues establishes memory and synapse loss in Alzheimer mice. Ann Neurol, 2015; 6:953–971.
14.
ZhaoL, Xiang-JunC, ZhuJ, et al.: Lanosterol reverses protein aggregation in cataracts. Nature, 2015; 523:607–611.
15.
De Sandre-GiovannoliA, BernardR, CauP, et al.: Lamin a truncation in Hutchinson-Gilford progeria. Science, 2003; 300:2055.
16.
ErikssonM, BrownWT, GordonLB, et al.: Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature, 2003; 423:293–298.
17.
YangSH, BergoMO, TothJI, et al.: Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation. Proc Natl Acad Sci U S A, 2005; 102:10291–10296.
18.
SahniN, YiS, TaipaleM, et al.: Widespread macromolecular interaction perturbations in human genetic disorders. Cell, 2015; 161:647–660.
19.
HungM-C, LinkW: Protein localization in disease and therapy. J Cell Sci, 2011; 124:3381–3392.
20.
QiLB, HuLD, LiuH, LengXY, YanYB: Cataract-causing mutation S228P promotes βB1-crystallin aggregation and degradation by separating two interacting loops in C-terminal domain. Protein Cell, 2016; 7:501–515.
21.
RiordanJR: Cystic fibrosis as a disease of misprocessing of the cystic fibrosis transmembrane conductance regulator glycoprotein. Am J Hum Genet, 1999; 64:1499–1504.
22.
PowersET, MorimotoRI, DillinA, et al.: Biological and chemical approaches to diseases of proteostasis deficiency. Annu Rev Biochem, 2009; 78:959–991.
23.
HGMD: www.hgmd.cf.ac.uk (Last accessed on October17, 2017).