PROMOTIES gerelateerd aan UMD onderzoek
16 maart 2023
"Neurometabolic Disorders: Metabolic Screening and Biomarker Discovery"
Promotores: Prof. dr. Michèl Willemsen en Prof. dr. Ron Wevers. Co-promotor: dr. Karlien Coene
13 maart 2023
"Cerebrotendinous xanthomatosis. A treatable inborn error of metabolism."
Promotor: Prof. dr. Ron Wevers. Co-promotores: dr. Aad Verrips en dr. Leo Kluijtmans
21 februari 2023
"Newborn screening for primary carnitine deficiency - Weighing benefits against harms."
Promotores: Prof. dr. Edward Nieuwenhuis en Prof. dr. Frits Wijburg. Co-promotores: dr. Mirjam Langeveld en dr. Gepke Visser.
3 februari 2023
"Phosphoglucomutase 1 deficiency: from clinical presentation to sugar metabolism in cell models."
Promotores: Prof. dr. Dirk Lefeber, Prof. dr. Baziel van Engelen. Co-promotores: dr. Nicol Voermans en dr. Monique van Scherpenzeel
2 november 2022
“Non-motor symptoms in dystonia: from prevalence to pathophysiology”
Promotores: Prof. dr. Marina de Koning-Tijssen, Prof. dr. Tom de Koning, Co-promotor: Dr. Klary Niezen-Koning
17 oktober 2022
"Therapeutics Development for Pantothenate Kinase-Associated Neurodegeneration."
Promotores: Prof. dr. O.C.M. Sibon, Prof. dr. D.J. Reijngoud
14 oktober 2022
"Pharmaceutical and genetic interventions to understand mechanisms of aging in C. elegans."
Promotor: Prof. dr. R.H.L. Houtkooper, Co-promotor: Dr. G.E. Janssens
14 september 2022
"Understanding hepatic Glycogen Storage Disease type Ia: role of phenotypic heterogeneity and nutrient sensors."
Promotor: Prof. A.J.A. van de Sluis, Co-promotor: Dr. ir. M.H. Oosterveer
3 juni 2022
"Primary Hyperoxaluria: no longer stuck between a rock and a hard place?"
Promotores: Prof. dr. J.W. Groothoff, Prof. dr. R.J.A. Wanders, Co-promotor: Dr. M.J.S. Oosterveld - cum laude
1 juni 2022
"Muscle stem cells & glycogen metabolism as targets for therapy in Pompe disease."
Promotor: Prof. dr. A.T. van der Ploeg, Co-promotores: Dr. G.J. Schaaf, Dr. W.W.M. Pijnappel
28 februari 2022
“Novel monitoring and management strategies for hepatic glycogen storage diseases.”
Promotores: dr. T.G.J. Derks, Prof. dr. G. Parenti, Co-promotor: dr. ir. M.H. Oosterveer
26 januari 2022
“Pyridoxine-dependent epilepsy: Towards newborn screening.”
Promotores: Prof. dr. Clara D.M. van Karnebeek, Prof. dr. Frits A. Wijburg. Co-promotores: Prof. dr. Nanda Verhoeven-Duif, Dr. Eduard A. Struys
2 november 2021
“Genetics of Pompe Disease: The secrets within the coding region of the GAA gene and beyond.”
Promotor: prof. dr. Ans van der Ploeg. Copromotor: Dr. Pim Pijnappel.
25 oktober 2021
“Multiple acyl-coa dehydrogenase deficiency and population newborn screening: connecting the dots.”
Promotores: Dr. Terry Derks, Prof. dr. Francjan van Spronsen, Prof. dr. J.L.K. van Hove
7 juli 2021
"Engineering human iPSC-derived Skeletal Muscle to Model Pompe Disease Towards novel gene and regenerative therapies."
Promotor: Prof. dr. A.T. van der Ploeg, Co-Promotor: Dr. W.W.M. Pijnappel
1 juni 2021
"Cartilage Pathology in MPS VI: disease modeling using iPSCs and CRISPR/Cas9."
Promotor: Prof. dr. A.T. van der Ploeg, Co-Promotor: Dr. W.W.M. Pijnappel
28 mei 2021
“Optimization of established and assessment of novel newborn screening strategies in the Netherlands”
Promotores: Prof. dr. Annet Bosch en Prof. dr. Anita Boelen
20 mei 2021
"Sjögren-Larsson Syndrome: New insights in disease mechanisms"
Promotor: Prof. dr. Michèl Willemsen, Co-promotor: Dr. Thomas Theelen
7 april 2021
"Functional analysis of genetic variants: contribution to the diagnosis of inherited metabolic diseases"
Promotor: Prof. dr. Gajja Salomons
28 januari 2021
“Breaking down long-chain fatty acid oxidation disorders: from pathophysiology to better treatment”
(Co-) promotoren: Prof. dr. Frits Wijburg, Prof. dr. Edward Nieuwenhuis, Dr. Gepke Visser, Prof. dr. Riekelt Houtkooper
22 januari 2021
“Classical Galactosemia - Elucidating the spectrum of clinical outcome”
Promotor: Prof. dr. Frits Wijburg, co-promotor: Prof. dr. Annet Bosch
21 januari 2021
“Liver disease in Congenital Disorders of Glycosylation”
Promotoren: Prof. Dr. J.P.H. Drenth en Prof. Dr. D.J. Lefeber
16 december 2020
“Hematopoietic Cell Transplantation in Inborn Errors of Metabolism: Hurdles to ‘real’ cure”
(Co-) promotoren: Prof. dr. Jaap Jan Boelens, Prof. dr. Nanda Verhoeven-Duif, Dr. Peter M. van Hasselt en Dr. Stefan Nierkens.
4 december 2020
"Modulating diet and mitochondria to promote longevity"
Promotor: Prof. Dr. R.H.L. Houtkooper, Copromotor: Dr. A.W. MacInnes.
10 november 2020
“Ketogenic Diet Therapy; Improving Outcome, Management and New Indications”
(Co-) promotoren: Prof. dr. P.A.E. Sillevis Smitt, Dr. R.F. Neuteboom, Dr. J.F. Olieman.
2 oktober 2020
“Classic galactosemia: natural history and new treatment approaches”
prof. dr. Estela Rubio-Gozalbo
22 september 2020
"Shortcomings of Currently Applied —Dietary— Treatment for Patients with Classical Organic Acidemias and Urea-cycle Disorders. Recommendations to improve outcome"
Promotor: Prof.dr. Ans van der Ploeg, co-promotor: Dr. Monique Williams.
22 september 2020
“Fabry and the Brain. Incorporating patients' illness perceptions into the physicians' practice”
Promotoren: prof.dr. C.E.M. Hollak & prof.dr. I.N. van Schaik.
11 december 2020
'"Mitochondrial Communication Is Key': Cross-compartmental signals maintaining proteostasis and longevity"
Promotor: Prof. Dr. R.H.L. Houtkooper, Copromotoren: Dr. A.W. MacInnes en Dr. G.E. Janssens.
16 september 2020
"Glycosylation defects in lipid metabolism"
Promotoren: prof. dr. E.S.G. Stroes & prof. dr. D.J. Lefeber.
24 augustus 2020
“Glycogen storage disease type IIIa – towards precision medicine.”
(Co-)promotoren: Prof. dr. Francjan van Spronsen en Dr. Terry Derks.
3 juli 2020
“Insights into the mitochondrial gene expression machinery: the identification and characterization of novel proteins associated with mitochondrial nucleoids”
(Co-) promotoren: Prof. dr. J.A.M. Smeitink, dr. J.N. Spelbrink.
14 mei 2020
“Important insights from discrete details: gaining insight in pathophysiology of inborn errors of metabolism through deep metabolic phenotyping.”
(Co-)promotoren: Nanda Verhoeven-Duif, Judith Jans en Peter van Hasselt.
7 juli 2020
“Movement disorders in inborn errors of metabolism.”
Promotoren: Prof. dr. T.J. de Koning en Prof. dr. M.A.J. de Koning-Tijssen.
7 juli 2020
“The Genotype-Phenotype Correlation in Pompe Disease Studied from an Enzymatic and Molecular Perspective.”
Promotor: Prof. dr. Ans van der Ploeg, co-promotor: Dr. Pim Pijnappel.
18 november 2020
“Tyrosinemia type 1, remaining challenges after introduction of NTBC”
Prof. Dr. E.A. van der Zee en Prof. Dr. F.J. van Spronsen
19 juni 2020
“Glycomics by mass spectrometry for the diagnosis of congenital disorders of glycosylation (CDG).”
Prof. dr. Dirk J. Lefeber, Prof. dr. Ron A. Wevers, Dr. Monique van Scherpenzeel.
Met opbrengsten uit de VriendenLoterij PrijzenMarathon heeft Stichting Metakids het samenwerkingsverband (UMD) van zes universitaire ziekenhuizen kunnen faciliteren. Ook is onderzoek binnen het UMD gestart. Deelnemers van de VriendenLoterij spelen sinds de campagne in 2018 geoormerkt mee voor dit goede doel waardoor dankzij hen nog steeds fondsen geworven worden.
Daarnaast zullen Stichting Metakids en het UMD gezamenlijk en afzonderlijk actief werven voor additionele subsidiegelden om het UMD verder te ontwikkelen tot een duurzaam samenwerkingsverband.
