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From bench to bedside in the era of personalized medicine in neuroscience ( II SEM) ( Prof.ssa Eva Cecille Feldman) (Visiting)


From bench to bedside in the era of personalized medicine in neuroscienze


Anno accademico 2022/2023

Codice attività didattica
Corso di studio
Corso SSST
Secondo semestre
A scelta dello studente
3 (18 ore)
SSD attività didattica
MED/26 - neurologia

Sommario insegnamento



Lecture 0: Presented on the same day as Lecture 1: Definitions.

Lecture 1: Clinical practice, immune mediated peripheral neuropathy: Prime candidates for targeted antibody treatments. Acetylcholine receptor antibody-positive myasthenia gravis (eculizumab), muscle specific kinase myasthenia gravis, as well as contactin-1 and neurofascin-155 nodopathy subtype chronic inflammatory demyelinating polyradiculoneuropathy (rituximab) (Feldman, Russell et al. 2021).

Lecture 2: Clinical practice, inherited peripheral neuropathy and neuromuscular: Prime candidates for genetic therapies. Hereditary transthyretin amyloidosis, spinal muscular atrophy. Overview of ASO (antisense oligonucleotides), RNAi (RNA interference), gene replacement with AAVs (adeno-associated viruses), future aims, genome editing (CRISPR-Cas) (Feldman, Russell et al. 2021).

Lecture 3: Research frontiers, acquired peripheral neuropathy: Diabetic peripheral neuropathy (DPN) and painful DPN. Overview of the condition, most common cause of peripheral neuropathy, stats about prevalence, current management (no disease-modifying therapies). Novel approaches to manage pain, including GWAS to identify SNPs in ion channels linked to pain, sensory phenotyping to match to potential therapies, brain MRI to phenotype central mechanisms (Davalos, Stino et al. 2022).

Lecture 4: Research frontiers, epilepsy, genetic testing and matching to tailored therapy (Striano and Minassian 2020, Knowles, Helbig et al. 2022).

Lecture 5: Research frontiers, neurodegenerative disease: Alzheimer’s most common. Overview of the illness, most common cause of dementia, stats abut prevalence, current management (no disease-modifying therapies). Risk reduction (Isaacson, Ganzer et al. 2018), diet for prevention (Norwitz, Saif et al. 2021, Samieri, Yassine et al. 2022), neuroinflammation (Hampel, Caraci et al. 2020), multiomics applications (Badhwar, McFall et al. 2020).

Lecture 6: Research frontiers, specific topics TBD.

Lecture 7: Research frontiers, specific topics TBD.

Lecture 8: Advancing personalized medicine in neuroscience/neurology using biostatistical and computational methods. Case studies for ALS survival prediction by ENCALS (Westeneng, Al-Chalabi et al. 2018, Westeneng, Debray et al. 2018), stroke outcomes (Bonkhoff and Grefkes 2022).

Lecture 9: Advancing drug discovery through novel clinical trial design leveraging personalized medicine. Novel clinical designs, master protocols, adaptive design, patient stratification by phenotype/genotype or by survival to improve the ability to detect effect size. Case studies for DPN (Bernard Healey, Scholtes et al. 2021), ALS (Kiernan, Vucic et al. 2021)


Modalità di verifica dell'apprendimento

The students will write a short paper

Testi consigliati e bibliografia


Additional material: Rare neurogenetic disorders (van Eeghen, Bruining et al. 2022), brain connectomics (Hollunder, Rajamani et al. 2022), neuroinformatics (Falcon, Jirsa et al. 2016), microbiome (Ning, Huang et al. 2022, Samieri, Yassine et al. 2022).


Badhwar, A., G. P. McFall, S. Sapkota, S. E. Black, H. Chertkow, S. Duchesne, M. Masellis, L. Li, R. A. Dixon and P. Bellec (2020). "A multiomics approach to heterogeneity in Alzheimer's disease: focused review and roadmap." Brain 143(5): 1315-1331.

Bernard Healey, S. A., I. Scholtes, M. Abrahams, P. A. McNaughton, D. K. Menon and M. C. Lee (2021). "Role of hyperpolarization-activated cyclic nucleotide-gated ion channels in neuropathic pain: a proof-of-concept study of ivabradine in patients with chronic peripheral neuropathic pain." Pain Rep 6(4): e967.

Bonkhoff, A. K. and C. Grefkes (2022). "Precision medicine in stroke: towards personalized outcome predictions using artificial intelligence." Brain 145(2): 457-475.

Davalos, L., A. M. Stino, D. Selvarajah, S. A. Sakowski, S. Tesfaye and E. L. Feldman (2022). Precision Medicine for Diabetic Neuropathy. Precision Medicine in Diabetes: A Multidisciplinary Approach to an Emerging Paradigm. R. Basu. Cham, Springer International Publishing: 171-197.

Falcon, M. I., V. Jirsa and A. Solodkin (2016). "A new neuroinformatics approach to personalized medicine in neurology: The Virtual Brain." Curr Opin Neurol 29(4): 429-436.

Feldman, E. L., J. W. Russell, W. N. Löscher, W. Grisold and S. Meng (2021). New Neuromuscular Therapies. Atlas of Neuromuscular Diseases: A Practical Guideline. E. L. Feldman, J. W. Russell, W. N. Löscher, W. Grisold and S. Meng. Cham, Springer International Publishing: 35-43.

Hampel, H., F. Caraci, A. C. Cuello, G. Caruso, R. Nisticò, M. Corbo, F. Baldacci, N. Toschi, F. Garaci, P. A. Chiesa, S. R. Verdooner, L. Akman-Anderson, F. Hernández, J. Ávila, E. Emanuele, P. L. Valenzuela, A. Lucía, M. Watling, B. P. Imbimbo, A. Vergallo and S. Lista (2020). "A Path Toward Precision Medicine for Neuroinflammatory Mechanisms in Alzheimer's Disease." Front Immunol 11: 456.

Hollunder, B., N. Rajamani, S. H. Siddiqi, C. Finke, A. A. Kühn, H. S. Mayberg, M. D. Fox, C. Neudorfer and A. Horn (2022). "Toward personalized medicine in connectomic deep brain stimulation." Prog Neurobiol 210: 102211.

Isaacson, R. S., C. A. Ganzer, H. Hristov, K. Hackett, E. Caesar, R. Cohen, R. Kachko, J. Meléndez-Cabrero, A. Rahman, O. Scheyer, M. J. Hwang, C. Berkowitz, S. Hendrix, M. Mureb, M. W. Schelke, L. Mosconi, A. Seifan and R. Krikorian (2018). "The clinical practice of risk reduction for Alzheimer's disease: A precision medicine approach." Alzheimers Dement 14(12): 1663-1673.

Kiernan, M. C., S. Vucic, K. Talbot, C. J. McDermott, O. Hardiman, J. M. Shefner, A. Al-Chalabi, W. Huynh, M. Cudkowicz, P. Talman, L. H. Van den Berg, T. Dharmadasa, P. Wicks, C. Reilly and M. R. Turner (2021). "Improving clinical trial outcomes in amyotrophic lateral sclerosis." Nat Rev Neurol 17(2): 104-118.

Knowles, J. K., I. Helbig, C. S. Metcalf, L. S. Lubbers, L. L. Isom, S. Demarest, E. M. Goldberg, A. L. George, Jr., H. Lerche, S. Weckhuysen, V. Whittemore, S. F. Berkovic and D. H. Lowenstein (2022). "Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress." Epilepsia 63(10): 2461-2475.

Ning, J., S. Y. Huang, S. D. Chen, Y. R. Zhang, Y. Y. Huang and J. T. Yu (2022). "Investigating Casual Associations Among Gut Microbiota, Metabolites, and Neurodegenerative Diseases: A Mendelian Randomization Study." J Alzheimers Dis 87(1): 211-222.

Norwitz, N. G., N. Saif, I. E. Ariza and R. S. Isaacson (2021). "Precision Nutrition for Alzheimer's Prevention in ApoE4 Carriers." Nutrients 13(4).

Samieri, C., H. N. Yassine, D. Melo van Lent, S. Lefèvre-Arbogast, O. van de Rest, G. L. Bowman and N. Scarmeas (2022). "Personalized nutrition for dementia prevention." Alzheimers Dement 18(7): 1424-1437.

Striano, P. and B. A. Minassian (2020). "From Genetic Testing to Precision Medicine in Epilepsy." Neurotherapeutics 17(2): 609-615.

van Eeghen, A. M., H. Bruining, N. I. Wolf, A. A. Bergen, R. H. Houtkooper, M. M. van Haelst and C. D. van Karnebeek (2022). "Personalized medicine for rare neurogenetic disorders: can we make it happen?" Cold Spring Harb Mol Case Stud 8(2).

Westeneng, H. J., A. Al-Chalabi, O. Hardiman, T. P. Debray and L. H. van den Berg (2018). "The life expectancy of Stephen Hawking, according to the ENCALS model." Lancet Neurol 17(8): 662-663.

Westeneng, H. J., T. P. A. Debray, A. E. Visser, R. P. A. van Eijk, J. P. K. Rooney, A. Calvo, S. Martin, C. J. McDermott, A. G. Thompson, S. Pinto, X. Kobeleva, A. Rosenbohm, B. Stubendorff, H. Sommer, B. M. Middelkoop, A. M. Dekker, J. van Vugt, W. van Rheenen, A. Vajda, M. Heverin, M. Kazoka, H. Hollinger, M. Gromicho, S. Korner, T. M. Ringer, A. Rodiger, A. Gunkel, C. E. Shaw, A. L. Bredenoord, M. A. van Es, P. Corcia, P. Couratier, M. Weber, J. Grosskreutz, A. C. Ludolph, S. Petri, M. de Carvalho, P. Van Damme, K. Talbot, M. R. Turner, P. J. Shaw, A. Al-Chalabi, A. Chio, O. Hardiman, K. G. M. Moons, J. H. Veldink and L. H. van den Berg (2018). "Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model." Lancet Neurol 17(5): 423-433.


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