MD Nika Schuermans 

" In 2016, I graduated as a Master of Medicine at Ghent University, after which I did a two-year training to become a general practitioner. 
I started my PhD on rare neurodegenerative diseases at the Dermaut Lab in 2018 (Ghent University). 
In 2019, I started a fellowship in clinical genetics which I’m combining with my PhD. This is the perfect combination to close the gap between clinical expertise and research, which is very interesting in the field of rare diseases. 
Lastly, I’m part of the PrOZA team (Program for Undiagnosed Rare Diseases), a multidisciplinary platform at the University Hospital of Ghent, to facilitate rare disease diagnostics." 


Loss of phospholipase PLAAT3 causes mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem MC, Nouioua S, Tazir M, Vigouroux C, Auclair M, Bogaert E, Dufour S, Okawa F, Hilbert P, Van Doninck N, Taquet MC, Rosseel T, De Clercq G, Debackere E, Van Haverbeke C, Cherif FR, Urtizberea JA, Chanson JB, Funalot B, Authier FJ, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J, Program for Undiagnosed Diseases (UD-PrOZA), Poppe B, Impens F, Mizushima N, Depienne C, Jéru I, Dermaut B

Nat Genet. 2023 Nov 02 55(11):1929-1940. doi: 10.1038/s41588-023-01535-3
PMID: 37919452

 A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L.
Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. PMID: 36681873. 

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

Ervilha Pereira P*, Schuermans N*, Meylemans A, LeBlanc P, Versluys L, Copley KE, Rubien JD, Altheimer C, Peetermans M, Debackere E, Vanakker O, Janssens S, Baets J, Verhoeven K, Lammens M, Symoens S, De Paepe B, Barmada SJ, Shorter J, De Bleecker JL, Bogaert E, Dermaut B. *equal contribution
Acta Neuropathol. 2023 Mar 31. doi: 10.1007/s00401-023-02565-1. PMID: 37000196.

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).

Schuermans N, Hemelsoet D, Terryn W, Steyaert S, Van Coster R, Coucke PJ, Steyaert W, Callewaert B, Bogaert E, Verloo P, Vanlander AV, Debackere E, Ghijsels J, LeBlanc P, Verdin H, Naesens L, Haerynck F, Callens S, Dermaut B, Poppe B; for UD-PrOZA.

Orphanet J Rare Dis. 2022 May 23;17(1):210. doi: 10.1186/s13023-022-02365-y.

PMID: 35606766

Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.

Naesens L, Nemegeer J, Roelens F, Vallaeys L, Meuwissen M, Janssens K, Verloo P, Ogunjimi B, Hemelsoet D; Program for Undiagnosed Rare Diseases (UD-PrOZA), Hoste L, Roels L, De Bruyne M, De Baere E, Van Dorpe J, Dendooven A, Sieben A, Rice GI, Kerre T, Beyaert R, Uggenti C, Crow YJ, Tavernier SJ, Maelfait J, Haerynck F.

J Clin Immunol. 2022 Mar 23. doi: 10.1007/s10875-022-01209-5. Online ahead of print.

PMID: 3532043

Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling.

Schuermans N*, El  Chehadeh S*,Hemelsoet D*, Bogaert E, Debackere E, Hilbert P,  Van Doninck N, Taquet MC, Rosseel T, De Clercq G, Van Haverbeke C, Chanson JB,  Funalot B, Authier FJ, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J, Program for Undiagnosed Diseases (UD-PrOZA), Poppe B, Depienne C, Dermaut B.
BioRXiv. 2021 April. doi: - online ahead of print

* contributed equally 

Expanding the TDP-43 Proteinopathy Pathway From Neurons to Muscle: Physiological and Pathophysiological Functions.

Versluys L, Ervilha Pereira P, Schuermans N, De Paepe B, De Bleecker JL, Bogaert E, Dermaut B.

Front Neurosci. 2022 Feb 3;16:815765. doi: 10.3389/fnins.2022.815765. eCollection 2022.

PMID: 35185458

Comparative study of innovative postoperative wound dressings after total knee arthroplasty.

Dobbelaere A, Schuermans N, Smet S, Van Der Straeten C, Victor J.

Acta Orthop Belg. 2015 Sep;81(3):454-61.

PMID: 26435241