imagine (Institute of molecular genetics and genetic engineering)
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Personalizovana medicina: prošlost, sadašnjost i budućnost
No full textAlthough medicine always aimed to be personalized, true implementation of personalized medicine in
health care practice has started recently. The term “personalized medicine” has been first mentioned in
1999. It was in the era of evidence-based medicine which promoted the concept of medicine dedicated
to an average patient. Fascinating development of molecular biology and bioinformatics shifted medicine
to more personalized approach, which tailors medical diagnosis and treatments to an individual’s
unique biological characteristics. Nowadays, modern medicine, precision medicine, is based on availability
of great amount of biological data, and it is in line with the biomedical model of health. There are four
cornerstones of precision medicine: genome-based diagnostics, pharmacogenomics, specific moleculartargeted,
gene and cellular therapy and predictive genomics. Enormous progress in the field of each of
these cornerstones has strongly contributed to the great achievements of modern medicine. The door for
precision medicine is wide-open in the everyday clinical practice and there is no doubt that it has already
brought great benefits to patients. The future of medicine lies in personalized medicine, a more comprehensive
approach to health. It considers not only biological, but also environmental, socio-economic and
psychological factors, and represents the biopsychosocial model of health. Personalized medicine is still
a great challenge for medical researchers and practitioners as well as for healthcare systems, but it is expected
that it will be fully implemented in medical practice worldwide in 21st century
Personalized Medicine Begins at Birth: Newborn Screening for Spinal Muscular Atrophy in Serbia as a Model of Individualized Care
No full textSpinal muscular atrophy (SMA) is a leading genetic cause of infant mortality, with disease-modifying therapies
achieving maximal benefit when administered presymptomatically, underscoring the medical, ethical,
and public health imperative for newborn screening (NBS). In 2021, Serbia launched its first genetic
NBS initiative for SMA, centralized at the Faculty of Biology, University of Belgrade, a center of SMA diagnostics
and research since 1997. Over a 17-month pilot study, 12,000 newborns across two maternity hospitals
were screened using dried blood spots analyzed by qPCR for SMN1 absence, with confirmatory MLPA
testing and SMN2 copy number determination. Following pilot study success, the national SMA screening
program began on September 15, 2023, now encompassing 52 public and 6 private maternity hospitals.
By September 09, 2025, 119,735 newborns had been screened, identifying 19 infants with SMA; 17 received
immediate therapy—6 with 2 SMN2 copies, 7 with 3 copies, and 4 with 4 copies—while 2 infants
with 5 SMN2 copies remain under observation. Treated infants remain largely asymptomatic. A multidisciplinary
Expert SMA Commission ensures individualized treatment decisions, integrating genetic, clinical,
and laboratory data. The program establishes Serbia’s first reliable SMA incidence estimate (1:6,302 births)
and demonstrates that presymptomatic diagnosis, structured screening workflows, and personalized therapy
can transform SMA from a severe, life-limiting disease into a manageable condition. Serbia’s experience
provides a compelling model for integrating precision medicine into national health systems through
coordinated collaboration among academia, patient advocacy, industry, and government, illustrating how
early genetic diagnosis and tailored interventions can fundamentally change disease trajectories.Spinalna mišićna atrofija (SMA) predstavlja vodeći genetički uzrok smrtnosti odojčadi, pri čemu terapije
koje menjaju tok bolesti imaju najveći efekat kada se primene presimptomatski. To naglašava medicinski,
etički i javnozdravstveni značaj neonatalnog skrininga. Srbija je 2021. pokrenula prvi genetički neonatalni
skrining za SMA, centralizovan na Biološkom fakultetu Univerziteta u Beogradu, koji od 1997. ima ekspertizu
u istraživanjima i dijagnostici SMA. U 17-mesečnoj studiji izvodljivosti testirano je 12,000
novorođenčadi iz dva porodilišta. Uzorci suvih krvavih mrlja analizirani su metodom qPCR radi otkrivanja
odsustva gena SMN1, uz potvrdno testiranje i određivanje broja kopija SMN2 metodom MLPA. Nakon završetka
studije izvodljivosti, nacionalni program skrininga za SMA počeo je 15. septembra 2023. i danas
obuhvata 52 državna i 6 privatnih porodilišta. Do 9. septembra 2025. testirano je 119,735 novorođenčadi
i identifikovano je 19 SMA pozitivnih beba. Od toga je 17 odmah započelo terapiju—6 sa dve kopije SMN2,
7 sa tri kopije i 4 sa četiri kopije—dok su dva novorođenčeta sa pet kopija pod kliničkim nadzorom. Lečene
bebe su uglavnom ostali asimptomatski. Multidisciplinarna Stručna komisija za SMA donosi individualizovane
odluke o terapiji, kombinujući genetičke, kliničke i laboratorijske podatke. Program je dao prvu
pouzdanu procenu učestalosti SMA u Srbiji (1:6,302) i pokazao da presimptomatska dijagnoza, jasno definisani
protokoli i personalizovana terapija mogu SMA pretvoriti iz teškog, životno ograničavajućeg oboljenja
u (iz)lečivu bolest. Srpsko iskustvo pruža model za integraciju precizne medicine u nacionalne zdravstvene
sisteme kroz saradnju akademske zajednice, pacijenata, industrije i države
Uticaj prekida i ponovnog uvođenja alglukozidaze alfa kod pacijenata sa Pompeovom bolešću kasnog početka
No full textLate-onset Pompe disease (LOPD) is a progressive metabolic myopathy caused by GAA gene variants. LOPD
should be considered in patients with unexplained limb-girdle weakness, isolated respiratory or trunk involvement,
or asymptomatic hyperCKemia. Enzyme replacement therapy (ERT) with recombinant human
acid α-glucosidase (rhGAA) is the standard treatment. However, data on the effects of treatment interruption
after long-term use are scarce.
We analyzed five genetically confirmed LOPD patients treated at the Neurology Clinic, University Clinical
Center of Serbia. Three patients (two female, one male) underwent enzyme testing and targeted sequencing,
while two male patients were diagnosed through whole-exome sequencing (WES). All patients
received rhGAA (20 mg/kg biweekly); treatment was interrupted for 54.2±8.0 days after a mean therapy
duration of 4.6±2.3 years.
During long-term ERT, muscle strength measured with MRC Sum-Score improved steadily, stabilized during
interruption, and increased again 2-6 months after reintroduction (p<0.05). The 6-minute walking test
(6MWT) distance declined during interruption but recovered by month six (p<0.05). Forced vital capacity
(FVC) deterioration accelerated during the therapy gap, with partial recovery that did not reach baseline
(p<0.01). Quality of life SF-36 Role Physical score improved after two months of resumed therapy (p<0.05).
These findings confirm the sustained efficacy of ERT in LOPD – even a short discontinuation of therapy
caused measurable decline with gradual recovery followed therapy reinitiation. Early molecular diagnosis
and continuous treatment are essential to optimize outcomes in LODP
DNK barkodiranje u forenzici životinja: primena gena za podjedinicu 1 citohrom c oksidaze i gena za citohrom b
No full textAccurate species identification is a cornerstone of forensic investigations involving wildlife crime, illegal
trade, and food fraud. Mitochondrial DNA (mtDNA) markers, particularly cytochrome c oxidase subunit I
(COI) and cytochrome b (cyt b), have been widely applied due to their high interspecies variability, simple
methodology, and robust amplification from degraded samples. COI has achieved global standardization
through the Barcode of Life Database (BOLD), while cyt b has demonstrated superior discriminatory power
in mammalian forensics. However, limitations remain, including incomplete reference databases, misannotation
of sequences, and the inability of mtDNA to differentiate hybrids or subspecies. To address these
challenges, multilocus approaches and integration with nuclear DNA markers (STRs, SNPs) are increasingly
recommended. Together, these methods strengthen evidentiary value, enhance species resolution, and
support both biodiversity protection and public health.Forenzičke istrage koje uključuju zločine nad divljim životinjama, nelegalnu trgovinu životinjskim vrstama
i prevare u prometu životinjske hrane se baziraju na tačnoj identifikaciji vrsta. Mitohondrijski DNK (mtDNK)
markeri, posebno gen koji kodira podjedinicu 1 citohrom c oksidaze (COI) i gen koji kodira citohrom b (cyt
b), široko se primenjuju zahvaljujući velikoj međuvrsnoj varijabilnosti, jednostavnoj metodologiji i pouzdanom
umnožavanju iz degradiranih uzoraka. Upotreba COI je globalno standardizovana putem baze podataka
Barkod života (BOLD), dok je cyt b pokazao izuzetno veliku diskriminatornu moć u forenzičkim
analizama sisara. Ipak, određena ograničenja i dalje postoje, uključujući nepotpune referentne baze podataka,
pogrešnu anotaciju sekvenci i nemogućnost razlikovanja hibrida ili podvrsta upotrebom mtDNK
markera. Kako bi se prevazišli ovi izazovi, preporučuje se upotreba većeg broja lokusa i integracija sa
jedarnim DNK markerima (STRs, SNPs). Udruženo, ove metode povećavaju dokaznu vrednost, unapređuju
preciznost u identifikaciji vrsta i doprinose očuvanju biodiverziteta i zaštiti javnog zdravlja
Antihyperglycemic Activity of Alchemilla viridiflora Herb Methanol Extract in Streptozotocin-Induced Diabetic Male Rats
No full textBased on the traditional use of Alchemilla L. species for the treatment of diabetes, the effect of the methanol extract of Alchemilla viridiflora (AVM) on enzyme activity in vitro and its impact on blood glucose levels in vivo were investigated. Diabetes was induced in male Sprague-Dawley rats using streptozotocin. AVM was administered to both normal and STZ-diabetic rats for 20 days at three different doses. Blood glucose levels and body weights of the treated animals were monitored throughout the experiment. After 20 days, serum insulin, cholesterol, triglycerides, and high- and low-density lipoproteins were measured. In addition, a histological analysis of the pancreas was performed. The AVM demonstrated inhibitory effects on the activities of all tested enzymes. In the in vivo experiment, a statistically significant reduction in body weight was observed in the AVM-treated animals at all three doses compared with the normal control group. Notably, a dose of 200 mg/kg significantly decreased blood glucose levels on both the 10th day and 20th day (p < 0.05). However, the extract showed no statistically significant effects on the tested biochemical parameters. Overall, the results of this study suggest that AVM has potential for the treatment of hyperglycemia associated with diabetes and obesity
Structural flexibility of a recombinant intrinsically disordered LEA protein from Ramonda serbica
No full textLate embryogenesis abundant (LEA) proteins play a crucial role in the desiccation tolerance of resurrection plants, although their exact functions remain unclear. Therefore, we recombinantly produced desiccation-induced LEA4 protein member, RsLEAP30-His6, from Ramonda serbica and investigated its structural behaviour under simulated dehydration conditions. This is the first report on the production and purification of a recombinant LEA protein from the resurrection plant R. serbica. By immobilised metal affinity and size-exclusion chromatography, we successfully obtained RsLEAP30-His6 with a purity of over 95%, thus providing a robust and scalable method that can also be used for the production of other LEA proteins. Structural characterisation by circular dichroism spectroscopy in combination with in silico modelling, revealed that RsLEAP30 is predominantly disordered under fully hydrated conditions, whereas it adopts an α-helical structure under desiccation-like conditions and in the presence of a lipid mimetic. This disorder-to-order transition underpins the possible protective role of RsLEAP30 in chloroplasts, likely through interactions with thylakoids and desiccation-sensitive proteins enabling the rapid recovery of photosynthetic components upon rehydration. Our study provides new insights into the structure–function relationship of LEA proteins in desiccation tolerance and creates a basis for future bioengineering strategies to improve crop drought tolerance
Antihyperglycemic Activity of Alchemilla viridiflora Herb Methanol Extract in Streptozotocin-Induced Diabetic Male Rats
No full textBased on the traditional use of Alchemilla L. species for the treatment of diabetes, the effect
of the methanol extract of Alchemilla viridiflora (AVM) on enzyme activity in vitro and its
impact on blood glucose levels in vivo were investigated. Diabetes was induced in male
Sprague-Dawley rats using streptozotocin. AVM was administered to both normal and
STZ-diabetic rats for 20 days at three different doses. Blood glucose levels and body weights
of the treated animals were monitored throughout the experiment. After 20 days, serum
insulin, cholesterol, triglycerides, and high- and low-density lipoproteins were measured.
In addition, a histological analysis of the pancreas was performed. The AVM demonstrated
inhibitory effects on the activities of all tested enzymes. In the in vivo experiment, a
statistically significant reduction in body weight was observed in the AVM-treated animals
at all three doses compared with the normal control group. Notably, a dose of 200 mg/kg
significantly decreased blood glucose levels on both the 10th day and 20th day (p < 0.05).
However, the extract showed no statistically significant effects on the tested biochemical
parameters. Overall, the results of this study suggest that AVM has potential for the
treatment of hyperglycemia associated with diabetes and obesity
Detection of Echinococcus spp. in Condemned Livers
No full textEchinococcosis, a parasitic zoonosis caused by Echinococcus spp. tapeworms, poses a significant public health concern in Europe, but remains under-reported in both humans and animals. Post-mortem examination of slaughtered livestock offers a valuable opportunity for early detection and surveillance of parasitic infections, including echinococcosis, in meat intended for human consumption. In this study, liver samples exhibiting pathological changes were collected from two abattoirs in Serbia. A total of 31 livers—22 from pigs, 7 from lambs, and 2 from bullocks—were analysed microscopically, and molecularly using PCR, to detect Echinococcus spp. DNA. The parasite was detected in three pig livers, and three distinct species were identified: E. granulosus, E. canadensis, and E. multilocularis. Although the sample size was relatively small, the detection of multiple Echinococcus species in pigs suggests a potential role of these animals in the parasite’s transmission cycle within Serbia. These findings underscore the ongoing importance of comprehensive meat inspection protocols in abattoirs for zoonotic disease surveillance. They also highlight the need for expanded surveillance efforts and enhanced diagnostic procedures, particularly speciation of the tapeworm, to improve early detection and control of Echinococcus infections at the abattoir level
CORE INFLUENCERS AND NETWORK STRUCTURE OF CO-OCCURRING ANTIBIOTIC, METAL AND BIOCIDE RESISTANCE GENES AND MOBILE GENETIC ELEMENTS IN BELGRADE'S AIRBORNE RESISTOME DURING AUTUMN SEASON
No full textUrban air harbors complex microbial communities carrying resistance determinants. This study
characterized the airborne resistome across seven Belgrade locations with varying pollution
during autumn season using shotgun metagenomics. We profiled antibiotic resistance genes
(ARGs), metal resistance genes (MRGs), biocides resistance genes (BRGs), and mobile genetic
elements (MGEs) via CARD, MegaRes, isfinder, integrall, and plasmid databases. Spearman
rank correlation of the top 35 elements from each category constructed co-occurrence
networks, split into positive and negative correlation subnetworks. Key elements emerged as
high-influence hubs. Betweenness centrality identified plasmid NZ_CP016737.1, ARGs
mdtF and acrD, and MRGs mntH and pstA as critical connectors in both networks. Degree
centrality highlighted overlapping hubs: ARGs (mdtB, msbA, emrB), plasmids
(NZ_MG591698.1, NZ_CP041417.1, NZ_CP077309.1, NZ_LN868944.1), genus Escherichia
sp., and MRG cusA. Crucially, eigenvector centrality identified an identical core set of the
top 10 most influential elements in both networks: ARGs mdtB, msbA, emrB; integrons
CP051219.1 and AP023197.1; genus Escherichia sp.; plasmids NZ_MG591698.1,
NZ_CP041417.1, NZ_CP077309.1, NZ_LN868944.1; and MRG cusA. Network topology
revealed stark differences. The positive correlation network exhibited high modularity (0.75),
forming distinct modules featuring the hub genera Lactococcus sp. and Escherichia sp. The
negative correlation network showed low modularity (0.30), lacking clear clustering. We
identified a persistent core of highly influential elements (specific efflux pump ARGs,
plasmids, integrons, Escherichia, and MRG cusA) dominating Belgrade's airborne resistome
network across correlation types. The dominance of Escherichia and Lactococcus as hubs
within structured positive co-occurrence modules highlight their significance in resistance
dissemination, likely driven by co-selection pressures and facilitated by MGEs.Zbornik sažetaka: V simpozijum biologa i ekologa Republike Srpske sa međunarodnim učešćem - SBERS 2025 Prirodnomatematički fakultet, Univerzitet u Banjoj Luci, 13-15. novembar 2025
Employing variegated tomato and pelargonium to develop sustainable strategy against zinc deficiency in crop plants (VARITOPE)
No full textZinc (Zn) is vital for plants and human health. Zn deficiency in plants reduces stress resilience, crop yield and food quality. Reliance on Zn fertilizers is not sustainable and causes environmental toxicity. The VARITOPE innovative approach is based on exploiting natural variegation to enhance crop Zn efficiency, aiming to promote sustainable agriculture. The expertise of BC CAS (partner from Diaspora) in trace metal homeostasis and metalloproteomics is key to VARITOPE implementation.Principal Investigator: Dr. Marija Vidović, IMGGEParticipants from IMGGE: Ana Pantelić i Dejana MilićDuration period: 2025 - 202