Nature Reviews Endocrinology News and View

Our Nature Genetics publication was highlighted in Nature Reviews endocrinology!

"Schuermans et al. report phospholipase A and acyltransferase 3 (PLAAT3) deficiency in patients with lipodystrophy and peripheral neuropathy. Their discovery adds to the growing list of genetic lipodystrophies due to deficiencies of enzymes involved in phospholipid biosynthesis, including 1-acylglycerol-3-phosphate O-acyltransferase 2 and choline phosphate cytidylyltransferase 1 A."

- Jan 8, 2024 -

Check out our new paper in Nature Genetics describing how loss of PLAAT3 leads to lipodystrophic and neurological syndrome through PPARγ impairment

"These findings establish PLAAT3 deficiency as a hereditary lipodystrophy syndrome with neurological manifestations, caused by a PPARγ-dependent defect in WAT differentiation and function."

- Nov 2, 2023 -

Dermaut lab presented @ ENCALS meeting in Barcelona

Pedro Ervilha Pereira had a poster presentation at the European Network to Cure ALS (ENCALS) meeting in July 2023 in Barcelona, presenting his research on TDP-43. 


- Jul 14, 2023 -

Best oral and best poster price @Solve_RD Final Meeting in Prague

Bart Dermaut, Nika Schuermans & Elke Bogaert had presentations at the Solve_RD final meeting. Solve RD is a European consortium aiming at 'solving the unsolved rare diseases'. https://solve-rd.eu/


- Apr 24-26, 2023 -

Check out our new paper in Acta Neuropathologica describing a highly aggregative novel TDP-43 mutation causing a Rimmed Vacuole Myopathy and not ALS

" TDP-43p.Trp385IlefsTer10 is an aggregation-prone partial loss-of-function variant that causes autosomal dominant vacuolar myopathy but not ALS/FTD. Our study genetically links TDP-43 proteinopathy to myodegeneration, and reveals a tissue-specific role of the PrLD in directing pathology." 

- Mar 31, 2023 -

Check out our new paper in Progress in Neurobiology on how Tau promotes oxidative stress-associated neuronal cycling in S phase as a pro-survival mechanism in Alzheimer's disease

"Our study proposes a tau-dependent protective effect of neuronal cell cycle reactivation in AD brains and challenges the current view that the neuronal cell cycle is an early mediator of tau pathology. " 

- Dec 6, 2022 -

Dermaut lab presented @ Day of Science 2022

Elke Debackere and Lotte Keymeulen were present at the Day of Science to educate the public about the importance of fruit flies in genetics.

Elke Debackere had an oral presentation about the link between fruit flies and Alzheimer’s research.

 

- Nov 27, 2022 -

Dermaut lab presented @ ASHG meeting in Los Angeles 

Nika Schuermans and Pedro Ervilha Pereira had a poster presentation at the American Society for Human Genetics (ASHG) meeting in October 2022 in Los Angeles presenting their research on PLAAT3 and TDP-43. 


- Oct 26, 2022 -

Check out our new review in Trends in Molecular Medicine about Moyamoya disease emerging as an immune-related angiopathy 

"Moyamoya disease is a rare cerebrovascular disorder that develops in genetically predisposed individuals, after triggering by an unknown second hit. Here, we examined the recent body of literature suggesting immune-related insults as a trigger for Moyamoya disease onset." 

- Sept 16, 2022 -

Dermaut lab presented @ the 17th ICNMD congress in Brussels

Pedro Ervilha Pereira presented his work on the characterization of a novel TDP-43 mutation and how it relates to the development of a myopathic outcome at the 17th International Congress for Neuromuscular Diseases held in Brussels in July 2022.

The presentation was selected as one of the highlights of the congress.


- July 8, 2022 -

Dermaut lab presented @ NGAPA conference (4th edition) in Ghent 

Caroline Asselman had a poster presentation at the Next Generation Protein Analysis and Detection (NGAPA) conference (4th edition) in May 2022 in Ghent presenting their research on Listeria monocytogene.


- May 31, 2022 -

Dermaut lab presented @ EMG meeting in Innsbruck

Nika Schuermans had an oral presentation at the European Metabolic Group (EMG) Meeting in May 2022 in Innsbruck. 
She presented her research on the discovery of a novel gene, PLAAT3, associated with a lipodystrophic syndrome with neurological features. 

She received the Free Communication Award. 


- May 24, 2022 -

Dermaut lab presented @ Joint BeSHG/NVHG meeting Bruges

Elke Bogaert and Nika Schuermans had an oral presentation at Joint BeSHG/NVHG meeting in April 2022 in Bruges. 

 

Elke Bogaert presented her research about modeling SRSF1 missense variants in fruit fly to understand the developmental delay with marfan-like features.

 

Nika presented her research on the discovery of a novel gene, PLAAT3, associated with a lipodystrophic syndrome with neurological features.

She received the award for best oral presentation.


- April 22, 2022 -


Congratulations to the recipients of a ‘Proof-of-concept Project for Young Investigators’ funded by the UGent Fund Alzheimer and Neurodegenerative Diseases.

Fund Alzheimer and Neurodegenerative Diseases provides research grants for young (postdoctoral) researchers to initiate potentially high-risk and innovative research projects. 

In this 1st call, following postdocs were awarded, and have started their project in February 2022.

 - Feb 14, 2022 - 

Dr.Jade I. Hawksworth 

Tissue Leakage Proteins (TLPs) as possible biomarkers for Parkinson’s disease 

(promotor of the grant: Prof. Kris Gevaert)

Dr. Lien Van Hoecke 

Exploring mesenchymal stem cell derived extracellular vesicles (MSC EVs) as a treatment for Alzheimer’s disease using a genetic mouse model. 

(promotor of the grant: Prof. Roosmarijn Vandenbroucke) 

Dr. Eva D’haene 

Mapping the 3D genome of the human retina to improve genetic diagnosis in inherited retinal neurodegenerative diseases 

(promotor of the grant: Prof. Elfride De Baere) 

Dr. Miriam Bauwens

Deciphering the pathogenic effect of missense variants of uncertain significance in RPE65, a target for gene therapy

(promotor of the grant: Prof. Elfride De Baere)