Genetics of Metabolic and Rare Diseases

Research Topic

The research group focuses on the genetics of monogenic diabetes, congenital hyperinsulinism, monogenic obesity, primary mitochondrial diseases, and sensorineural hearing loss. Our work is carried out in close collaboration with the National Institute of Children’s Diseases in Bratislava, University Hospital Bratislava, the Faculty of Medicine of Comenius University, and with diabetologists, endocrinologists, pediatricians, neonatologists, and otorhinolaryngologists across Slovakia.

Our goal is to identify genetic causes of inherited metabolic and rare diseases and to translate these findings into clinical practice. We use advanced DNA analysis techniques including real-time PCR, Sanger sequencing, targeted re-sequencing with the IonPGM system, and whole-exome sequencing with bioinformatic evaluation. We investigate genotype–phenotype relationships, perform functional studies of newly identified variants, and apply the results in personalized treatment based on pharmacogenetic principles.

In the field of monogenic diabetes, we study MODY forms, neonatal diabetes, and diabetes with extrapancreatic symptoms. Accurate genetic diagnosis enables optimized management and therapy adjustment. Congenital hyperinsulinism, most often caused by mutations in KCNJ11, ABCC8, GCK, or HNF4A, manifests as severe neonatal hypoglycemia that can lead to neurological complications. Identifying the genetic cause is essential for effective treatment.

Monogenic forms of obesity, accounting for about 5% of severe obesity cases, are linked to mutations in LEP, LEPR, MC4R, SIM1, and POMC genes and lead to early and severe disease onset.

Primary mitochondrial diseases represent a genetically heterogeneous group of disorders caused by impaired energy metabolism. Our aim is to identify and characterize rare causes of these diseases in Slovak patients.

In sensorineural hearing loss, the most common sensory disorder in humans, we search for previously unknown gene variants responsible for familial cases, as the causal gene remains unidentified in about two-thirds of families.

Our mission is to provide new insights into the genetic basis of metabolic and rare diseases and to contribute to more precise diagnostics and targeted therapy for patients in Slovakia.

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Head of the Research Group

Employees

Title	Name	E-mail	Phone	ORCID
Mgr., PhD.	Alchus Laiferová Nikoleta		02/32295 264
Mgr.	Andrésová Andrea		02/ 32295 273
Mgr.	Babulicová Jana		02/3229 5262
Mgr., PhD.	Bako Kristián
Mgr.	Barkova Daria
RNDr., PhD.	Borecká Silvia		02/32295 272
Mgr.	Cipková Klaudia		02/ 32295 273
RNDr.	Dobiašová Zuzana		02/ 32295 273
Mgr.	Dubajová Petra
doc. MUDr., PhD.	Fábryová Ľubomíra		02/32295 262
Mgr.	Ferjančeková Alena		02/32295 259
MSc.	Forišek Paulová Petronela		02/32295 264
RNDr., DrSc.	Gašperíková Daniela		02/ 32295 kl. 271
MUDr.	Greguš Filip
Mgr.	Hambalková Ema
Mgr., PhD.	Hromníková Dominika		02/32295 273
Ing., PhD.	Hubka Peter
RNDr.	Hučková Miloslava		02/ 32295 kl. 269, 258
Mgr.	Jexová Laura
Mgr., PhD.	Kicková Terézia		02/ 32295273
Mgr., PhD.	Klepochová Radka
dipl. f.	Konrády Patrik
Mgr.	Kubíčková Jana
Mgr., PhD.	Kurdiová Timea		02/ 32295 kl. 2262
Mgr.	Lebed Diana		02/32295 kl.273
Mgr.	Litváková Viera
doc. MUDr. MSc., PhD.	Minárik Peter		02/32295 262
MSc., PhD.	Motahari Rad Morteza
Mgr.	Mytiai Oksana
Mgr., PhD.	Nováková Zuzana
MVDr., PhD.	Ondičová Katarína
	Pavluvčiková Ľuboslava
Mgr.	Prekop Boris
MSc.	Preťo Ondrej
MUDr.	Sabová Alena
Mgr.	Shevchenko Yelyzaveta
MUDr., PhD.	Schön Martin		02/ 32295 kl. 262
Bc. Mgr., PhD.	Slobodová Lucia		02/ 32295 kl. 259
doc. MUDr., PhD.	Staník Juraj		02/32295 273, 271
MUDr., PhD.	Šeliga Juraj
RNDr., PhD.	Škopková Martina		02/ 32295 kl. 272
prof. MUDr., PhD.	Ukropcová Barbara		02/ 32295 kl. 261
MSc.	Ukropcová Kristína
Mgr., DrSc.	Ukropec Jozef		02/ 32295 kl. 263
PhDr. Mgr., PhD.	Vadovičová Petra
MUDr. RNDr., PhD.	Varga Lukáš		02/ 32295 kl. 269
Mgr., PhD.	Vince Kážmérová Zuzana		02 /32295 278
Mgr.	Zhukova Oleksandra		02/32295 kl.273