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Elisabetta Morini, Ph.D.


Available: 01/01/19, Expires: 12/31/21

Familial dysautonomia (FD) is a recessive neurodegenerative disease caused by a splice mutation in the ELP1 gene that results in variable skipping of exon 20. The clinical features of FD are all due to a striking progressive depletion of sensory and autonomic neurons. Specifically, the aim of our research project is to study retinal degeneration in a new FD mouse model and to explore the therapeutic potential of a splice-targeted therapy. The student will be performing:

  • Mouse husbandry, genotyping and dissections
  • Histological and immune-histochemical techniques
  • Molecular and cellular biology techniques including DNA, RNA, and protein isolation and manipulation.

Student's contribution and help to this project will be acknowledged in as co-authorship in subsequent publications.

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Raciti L, De Cola MC, Ortelli P, Corallo F, Lo Buono V, Morini E, Quattrini F, Filoni S, Calabrò RS. Sexual Dysfunction in Parkinson Disease: A Multicenter Italian Cross-sectional Study on a Still Overlooked Problem. J Sex Med. 2020 10; 17(10):1914-1925. PMID: 32665210.
    Citations:    Fields:    Translation:Humans
  2. Morini E, Gao D, Montgomery CM, Salani M, Mazzasette C, Krussig TA, Swain B, Dietrich P, Narasimhan J, Gabbeta V, Dakka A, Hedrick J, Zhao X, Weetall M, Naryshkin NA, Wojtkiewicz GG, Ko CP, Talkowski ME, Dragatsis I, Slaugenhaupt SA. ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia. Am J Hum Genet. 2019 04 04; 104(4):638-650. PMID: 30905397.
    Citations: 4     Fields:    Translation:HumansAnimalsCells
  3. Salani M, Urbina F, Brenner A, Morini E, Shetty R, Gallagher CS, Law EA, Sunshine S, Finneran DJ, Johnson G, Minor L, Slaugenhaupt SA. Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia. SLAS Discov. 2019 01; 24(1):57-67. PMID: 30085848.
    Citations: 1     Fields:    Translation:HumansCells
  4. Donadon I, Pinotti M, Rajkowska K, Pianigiani G, Barbon E, Morini E, Motaln H, Rogelj B, Mingozzi F, Slaugenhaupt SA, Pagani F. Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model. Hum Mol Genet. 2018 07 15; 27(14):2466-2476. PMID: 29701768.
    Citations: 14     Fields:    Translation:HumansAnimalsCells
  5. Morini E, Dietrich P, Salani M, Downs HM, Wojtkiewicz GR, Alli S, Brenner A, Nilbratt M, LeClair JW, Oaklander AL, Slaugenhaupt SA, Dragatsis I. Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia. Hum Mol Genet. 2016 Mar 15; 25(6):1116-28. PMID: 26769677.
    Citations: 14     Fields:    Translation:HumansAnimalsCells
  6. Sancisi V, Germinario E, Esposito A, Morini E, Peron S, Moggio M, Tomelleri G, Danieli-Betto D, Tupler R. Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1). . 2014 Jan 15; 306(2):R124-37. PMID: 24305066.
    Citations: 11     Translation:AnimalsCells
  7. Salani M, Morini E, Scionti I and Tupler R. Neuromuscular Disorders. Facioscapulohumeral muscular dystrophy: from clinical data to molecular genetics and return. 2012. View Publication.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.