Sonja W. Scholz, M.D., Ph.D.

Dr. Scholz is a physician-scientist specializing in neurodegenerative disorders. She received her medical degree from the Medical University Innsbruck, Austria. She is a Senior Investigator and chief of the Neurodegenerative Diseases Research Section at the National Institute of Neurological Disorders and Stroke. She is also an Adjunct Professor of Neurology at Johns Hopkins University. Her primary area of research is the genetic characterization of parkinsonism syndromes, including Lewy body dementia, multiple system atrophy, and other understudied diseases. She specializes in applying modern genomic techniques and data-driven approaches to understand the genetic mechanisms underlying neurodegeneration, aiming to identify targets suitable for disease-modifying therapeutic interventions.

Research Interests:

Advances in genomic technologies have provided us with unprecedented capabilities to explore heritable factors involved in the development of neurological diseases. Neurogenetics has already revolutionized how we think about common neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease.

We extend these powerful genomic techniques to other neurodegenerative diseases, such as Lewy body dementia, multiple system atrophy, frontotemporal dementia, progressive supranuclear palsy, and corticobasal degeneration. The Neurodegenerative Diseases Research Section (NDRS) has been established to achieve this aim. Its primary mission is to unravel molecular genetic mechanisms that cause these devastating diseases. This knowledge identifies targets for drug development. To maximize our impact, we are building on our national and international collaborations, and we leverage the unique resources within the Intramural Research Program at the NIH.

Lab Members:

• Anindita Ray, Ph.D.: postdoctoral fellow
• Shaimaa Sait, Ph.D.: postdoctoral fellow
• Yi-Jung Lee, M.D. Ph.D.: postdoctoral fellow
• Boluwatife Adewale, M.B. B.S.: postdoctoral fellow
• Natalie Landeck, Ph.D.: staff scientist

Selected Publications:

1. Kaivola K, Chia R, Ding J, Rasheed M, Fujita M, Menon V, Walton RL, Collins RL, Billingsley K, Brand H, Talkowski M, Zhao X, Dewan R, Stark A, Ray A, Solaiman S, Jerez PA, Malik L, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Masellis M, Keith J, Black SE, Ferrucci L, Resnick SM, Tanaka T, The American Genome Center; International LBD Genomics Consortium; International ALS/FTD Consortium; PROSPECT Consortium; Topol E, Torkamani A, Tienari P, Foroud TM, Ghetti B, Landers JE, Ryten M, Morris HR, Hardy JA, Mazzini L, D’Alfonso S, Moglia C, Calvo A, Serrano GE, Beach TG, Ferman T, Graff-Radford NR, Boeve BF, Wszolek ZK, Dickson D, Chio A, Bennett DA, De Jager PL, Ross OA, Dalgard CL, Gibbs JR, Traynor BJ, Scholz SW. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias. Cell Genomics. 2023 May 4;3(6):100316.
    
2. Kaivola K, Shah Z, Chia R, International LBD Genomics Consortium, Scholz SW. Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups. Brain. 2022 Jun 3;145(5):1757-1762.
    
3. Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George-Hyslop P, Londos E, Morgan K, Lashley T, Warner TT, Jaunmuktane Z, Galasko D, Santana I, Tienari PJ, Myllykangas L, Oinas M, Cairns NJ, Morris JC, Halliday GM, Van Deerlin VM, Trojanowski JQ, Grassano M, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Brett F, Gan-Or Z, Geiger JT, Moore A, May P, Krüger R, Goldstein DS, Lopez G, Tayebi N, Sidransky E; American Genome Center, Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Shakkottai VG, Perkins M, Newell KL, Gasser T, Schulte C, Landi F, Salvi E, Cusi D, Masliah E, Kim RC, Caraway CA, Monuki ES, Brunetti M, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Flanagan ME, Mao Q, Bigio EH, Rodríguez-Rodríguez E, Infante J, Lage C, González-Aramburu I, Sanchez-Juan P, Ghetti B, Keith J, Black SE, Masellis M, Rogaeva E, Duyckaerts C, Brice A, Lesage S, Xiromerisiou G, Barrett MJ, Tilley BS, Gentleman S, Logroscino G, Serrano GE, Beach TG, McKeith IG, Thomas AJ, Attems J, Morris CM, Palmer L, Love S, Troakes C, Al-Sarraj S, Hodges AK, Aarsland D, Klein G, Kaiser SM, Woltjer R, Pastor P, Bekris LM, Leverenz JB, Besser LM, Kuzma A, Renton AE, Goate A, Bennett DA, Scherzer CR, Morris HR, Ferrari R, Albani D, Pickering-Brown S, Faber K, Kukull WA, Morenas-Rodriguez E, Lleó A, Fortea J, Alcolea D, Clarimon J, Nalls MA, Ferrucci L, Resnick SM, Tanaka T, Foroud TM, Graff-Radford NR, Wszolek ZK, Ferman T, Boeve BF, Hardy JA, Topol EJ, Torkamani A, Singleton AB, Ryten M, Dickson DW, Chiò A, Ross OA, Gibbs JR, Dalgard CL, Traynor BJ, Scholz SW. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture. Nature Genetics. 2021; Mar;53(3):294-303.
    
4. Jabbari E, Koga S, Valentino RR, Reynolds RH, Ferrari R, Tan MMX, Rowe JB, Dalgard CL, Scholz SW, Dickson DW, Warner TT, Revesz T, Höglinger GU, Ross OA, Ryten M, Hardy J, Shoai M, Morris HR; PSP Genetics Group. Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study. Lancet Neurology. 2021 Feb;20(2):107-116.
    
5. Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF; American Genome Center (TAGC); FALS Sequencing Consortium; Genomics England Research Consortium; International ALS/FTD Genomics Consortium (iAFGC); International FTD Genetics Consortium (IFGC); International LBD Genomics Consortium (iLBDGC); NYGC ALS Consortium; PROSPECT Consortium, Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, Torkamani A, Tanaka T, Ferrucci L, Resnick SM, Pickering-Brown S, Brady CB, Kowal N, Hardy JA, Van Deerlin V, Vonsattel JP, Harms MB, Morris HR, Ferrari R, Landers JE, Chiò A, Gibbs JR, Dalgard CL, Scholz SW,* Traynor BJ*. Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis. Neuron. 2021; 109(3):448-460. *joint last author
    
6. Tolosa E, Garrido A, Scholz SW, Poewe W. Challenges in the diagnosis of Parkinson’s disease. Lancet Neurology. 2021 May;20(5):385-97. PMID: 33894193.
    
7. Allnutt MA, Johnson K, Bennett DA, Connor SM, Troncoso JC, Pletnikova O, Albert MS, Resnick SM, Scholz SW, De Jager PL, Jacobson S. Human herpesvirus 6 detection in Alzheimer's disease cases and controls across multiple cohorts. Neuron. 2020 Mar 18;105(6)1027-1035.
    
8. Geiger JT, Ding J, Crain B, Pletnikova O, Letson C, Dawson TM, Rosenthal LS, Pantelyat A, Gibbs JR, Albert MS, Hernandez DG, Hillis AE, Stone DJ, Singleton AB; North American Brain Expression Consortium, Hardy JA, Troncoso JC, Scholz SW. Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies. Neurobiology of Disease. 2016 Oct;94:55-62.
    
9. Jakobsson M, Scholz SW,* Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, Bras JM, Schymick JC, Hernandez DG, Traynor BJ, Simon-Sanchez J, Matarin M, Britton A, van de Leemput J, Rafferty I, Bucan M, Cann HM, Hardy JA, Rosenberg NA, Singleton AB. Genotype, haplotype and copy-number variation in worldwide human populations. Nature. 2008; 451(7181): 998-1003. *joint first author
    
10. Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB. DYT16, a novel young-onset dystonia-parkinsonism disorders: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurology. 2008; 7(3):207-15.