Nikolaos Drakoulis - Chairman of the Organizing Committee and President of EEPHARM
Efstratios Patsouris - Dean, School of Health Sciences, National & Kapodistrian University of Athens
Despoina Makridaki - Vice President, National Organization for Medicines (EOF)
Michalis Vlastarakos President of the Panhellenic Medical Association (PIS)
Aristides M Tsatsakis - Federation of European societies of Toxicology EUROTOX, Hellenic Society of Toxicology, University of Crete
Georgios Patoulis (invited) - President, Medical Association Athens (ISA)
Antonios Avgerinos - President, Hellenic Red Cross

13:30 - 14:15 (Keynote lecture)
G. Chrousos
Personalized Diagnosis and Therapy of Metabolic Syndrome
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14:15 - 14:45
K. Konstantinidis
Personalized Robotic Surgery for Treating Metabolic Syndrome
According to the International Diabetes Federation and International Federation for Surgery of Obesity and Metabolic Disorders (IFSO), surgery is the appropriate treatment for obese patients with type 2 diabetes mellitus (IDF,March 2011). This is the first international statement that accepts a totally new entity in medicine, ie surgical treatment of diabetes mellitus, commonly termed 'metabolic surgery'. In the consensus mentioned above surgeons, diabetologists, endocrinologists and other modalities joined forces to come to safe conclusions, which shows the multidisciplinary approach that is mandatory for this large and extremely sensitive part of the population. Accumulated experience from almost 3 decades of surgical procedures for morbid obese patients has shown that obesity comorbidities and especially type 2 diabetes are being cured by mechanisms different than plain weight loss. Our clinic constitutes an IFSO-accredited center of excellence for bariatric and metabolic surgery and our results from laparoscopic and robotic bariatric procedures are presented in this paper.
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15:45 - 16:00
Ν. Demertzis
Frequency Distribution of Predisposing to Type II Diabetes Mellitus and/or Obesity Gene Polymorphisms in a Greek Population and their Impact in Personalized Medicine
Diabetes mellitus type II is a chronic metabolic disease with a pandemic spread worldwide. Environmental influences and genetic background are included in the pathogenesis of the disease. More than 40 genome loci have been associated with the risk of developing type II diabetes. Meanwhile, the genetic basis of diabetes type II and obesity is recognized and, at least partially, documented by several studies. Thus, it is well understood that polymorphisms may explain differences in disease susceptibility and prevalence among humans, which may significantly contribute to prevention, diagnosis and even individualized treatments of these frequent diseases.
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16:00 - 16:15
Μ. Syka
Investigation of Various Gene Polymorphism Relationships in Asthma Patients and the Importance of Type II Diabetes Coexistence
The purpose of this study is to investigate the polymorphisms of IL-6 (rs1800795), TNF-a (rs1800629 gene ), SPINK5 (rs2303067), ORMDL3 (rs7216389), TCF7L2 (rs7903146), PPARg2 (rs1801282), MTNR1B (rs10830963), CDKAL1 (rs7756992), FTO (rs9939609), SLC30A8 (rs13266634), GSTM1, GSTP1 (rs1695) in patients with bronchial asthma and to investigate if the patients who suffer from bronchial asthma suffer from diabetes mellitus type II at the same time. Particularly in the group of patients with bronchial asthma and diabetes mellitus type II will be investigated the frequency distribution of the above polymorphisms. Specific polymorphisms are associated with asthma: SPINK5 (rs2303067), ORMDL3 (rs7216389), GSTM1, GSTP1 (rs1695) TNF-a (rs1800629), specific polymorphisms are associated with diabetes mellitus type II: CDKAL1 (rs7756992) , FTO (rs9939609), SLC30A8 (rs13266634), TCF7L2 (rs7903146), PPARg2 (rs1801282), MTNR1B (rs10830963), IL-6 (rs1800795) and specific polymorphisms are associated with obesity: FTO (rs9939609), IL-6 (rs1800795), PPARg2 (rs1801282). The study involves 1497 DNA samples. 106 are from asthmatic patients of both sexes, aged 30-70 years old, Greek origin and 1391 are from controls without asthma with or without diabetes mellitus type II. The statistical analysis, which is still in progress, reveals a relationship between asthma, diabetes melitus type II and obesity for the SLC30A8 gene (rs13266634), CDKAL1 (rs7756992), TCF7L2 (rs7903146), IL-6 (rs1800795) ORMDL3 (rs7216389).
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16:15 - 16:45
E. Charmandari
Development of a National e-Health System for the Prevention and Management of Childhood Obesity
Obesity in childhood and adolescence represents a major health problem and accounts for a significant increase in morbidity and mortality in adulthood. Our objective was to develop a “National Registry for the Prevention and Management of Overweight and Obesity in Childhood and Adolescence”. Using information and communication technologies (ICT), we developed a web application (http://app.childhood-obesity.gr/) supporting interoperability with other National infrastructures (i.e. ePrescription) and multi-layered security spanning preventive, detective, and administrative controls. This includes transparent data encryption, data redaction, data masking, privileged user controls, privilege usage analysis, conditional auditing and real application security. The Patient Summary Dataset includes information on the present and past medical history, family history, medications, immunizations, clinical examination and laboratory findings, and appointment booking service. Based on the data that the doctor is registering, the system calculates a personalized therapeutic algorithm that provides information on diet, physical exercise and sleep, as well as guidance on laboratory investigations and referral to specialized centers. A pilot study performed in 1000 children and adolescents indicated that using this system resulted in a reduction of obesity rates by 30% and overweight rates by 35% within 1 year. This National e-Health System appears to be effective in the management of overweight and obesity in childhood and adolescence.
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16:45 - 17:00
M. Vourakis
Frequency of Occurrence of Single Nucleotide Polymorphisms Associated with Different Responses to Alcohol in 1276 Caucasian Volunteers.
Alcohol is probably the most frequently used addictive substance worldwide. Aim of this study is to determine the frequency distribution of SNPs within ADH1B, ADH4, ADH1C, ALDH2 genes encoding enzymes involved in alcohol metabolism and BDNF, OPRM1, DRD2 genes associated with other CNS processes in a southeastern European Caucasian population. An alcohol-addiction specific algorithm was generated (TGS) that may predict alcohol dependence and/or alcohol addiction prevalence in a population. In total, samples of 1276 volunteers were analyzed after de-identification and anonymization. Allele distribution of the examined polymorphisms in the present Greek population cohort were: rs1229984 (ADH1B): GG(wt)=64.14%, GA=29.86%, AA=4.00%, rs1693482 (ADH1C): CC(wt)=57.45%, CT=36.76%, TT=5.80%, rs1799971 (OPRM1): AA(wt)=72.43%, AG=28.72%, GG=1.89%, rs1800497 (DRD2): TT(wt)=1.98%, CT=27.18%, CC=70.84%, rs1800759 (ADH4): CC(wt)=34.25%, CA=48.12%, AA=17.63%, rs6265 (BDNF): GG(wt)=65.99%, GA=31.02%, AA=2.99%, rs671 (ALDH2): GG(wt)=99.84% GA=0.16%, AA=0.00%. Mutant rs1229984 allele A was ~6.5x more frequent in the Greek than in the European population (18.93% v/s 2.88%). Mutant rs1693482 allele T was ~1.7x more frequent in the European than in the Greek population (24.18% v/s 40.46%]. Mutant alleles for polymorphisms rs1800759 and rs1799971 show similar frequencies in both northern and southern Europeans. One rs671 mutant A allele was detected in the Greek population (0.08%). The mutant rs1800497 allele T was ~1.2x more frequent in the European than in the Greek population (15.57% v/s 18.79%) and the mutant rs6265 allele A was ~1.1x more frequent in the European than in the Greek population (18.50% v/s 19.68%]. In conclusion, the analyzed Southeastern population may differ genetically from north Europeans, due to influences from neighboring Asian and African populations.
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17:00 - 17:15
S. Chalvatzi
Epidemiology of Genetic Variations Within the Homocysteine Metabolic Pathway in Greek Caucasian Volunteers
Homocysteine is a demethylated derivative of methionine, which is the body’s most important methyl donor. It is metabolized following three pathways. The appearance of any disruption in these pathways may lead to hyperhomocysteinemia. Hyperhomocysteinemia occurs in about 5% of the general population and is associated with increased risk of various diseases, such as cardiovascular, neurological and renal disease, spontaneous abortion, osteoporosis and cancer. The concentration of homocysteine in plasma can be affected by many factors, both nutritional and genetical. This particular research is an epidemiological study of the frequency of 7 known polymorphisms involved in the metabolism of homocysteine, in a sample of Greek population. The polymorphisms studied are as follows: i) rs4680 in COMT gene, ii) rs1801131 and iii) rs1801133 in MTHFR gene, iv) rs234706 in CBS gene, v) rs1805087 in MTR gene, vi) rs1801394 in MTRR gene and vii) rs1801198 in TCN II gene. The polymorphisms were analyzed in the lab separately and the results were compared to those of worldwide and European population. Finally, the Total Genotype Score (TGS) was calculated for the six polymorphisms combined altogether.
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17:30 - 18:15 (Keynote lecture)
I. Cascorbi
Pharmacogenomics in Cancer Drug Resistance
During the last decade, there is enormous progress in cancer pharmacogenomics, allowing an increasingly precise therapy towards cancer subtypes with respect to genomic properties such as somatic tumor mutations and/or protein overexpression. Typical examples of successfully applied stratified anti-cancer agents are antibodies such as verumafenib and dabrafenibor more recently check-point inhibitor such as nivolumab and pembrolizumab, but also small molecules such as the tyrosine kinase inhibitor imatinib. Despite the stratification of tumors to molecular markers, such small molecules are often subject to broad inter-individually variability of pharmacokinetic properties due to varying transport and metabolic processes. For some drug-metabolizing enzymes there is strong evidence on relation between drug toxicity and poor metabolism. Examples for genes of major significance are TPMT, relevant for purine derivatives, UGT1A1 for irinotecane or PYDP for 5-fluorouracil. Further factors contributing e.g. to varying efflux are much more difficult to determine and have been described so far mostly in the frame of association or in-vitro studies. In addition, there is increasing knowledge on the modification of gene activity through epigenetic processes by DNA-methylation or histone acetylation interfering with ADME genes activity thereby significantly contributing to drug resistance of cancer cells. In addition, altered miRNA expression has been identified to be major determinant of cancer drug resistance.
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18:15 - 18:45
Ch. Kroupis
Genetics of Age-Related Macular Degeneration
Age-related macular degeneration (AMD) is a multifactorial, clinically heterogeneous degenerative disease of the human eye which affects patients over the age of 50 and can lead to serious visual impairment or even complete visual loss. It is considered to be the most frequent cause of blindness in Western societies and thus a significant public health burden, especially after taking into consideration the constantly rising life expectancy and the relative scarcity of effective treatment options. Clinically, two forms of AMD -differing in clinical course, prognosis, treatment and possibly etiology- are recognized: the dry form, that affects 80% of the patients and the severe form, the wet form, for the remaining 20%. The disease limits itself to the central region of the fundus, the macula, which is responsible for central vision and affects to greater or lesser extent the photoreceptor retinal cells, the retinal pigment epithelium (RPE), the Bruch’s membrane and the choriocapillaries. The clinical and histopathological hallmark of AMD is- without any doubt- the drusen: a subretinal lesion that tends to aggregate and cause geographic atrophy of the RPE and subsequently of the photoreceptors. These subretinal deposits of lipids, immune-related protein complexes and cellular debris of unclear origin, can be either hard or soft drusen, the latter being a significant risk factor for disease progression to choriodal neovascularization (advanced wet form). The mysterious nature of these lesions has launched a great number of theories as to their origin and function, which involve oxidative stress, antioxidant capacity, lipid metabolism, blood flow abnormalities in choroid vessels, the ubiquitin proteolytic system and the immune system as the key players in drusen formation. Data replicated by numerous studies have made clear that both innate immunity and genetics hold a central role in disease pathogenesis. Either through genome-wide association studies or candidate-gene approaches, the dissection of ARMD’s genetic background has gained significant momentum during the last decade and a great number of SNPs and their respective genetic loci have been studied to date. Studies in twins have estimated the genetic heritability component of ARMD between 46 and 71%. ARMS2, HTRA1, CFH and APOE are only a few examples of genes related to innate immunity, lipid metabolism, oxidative stress and extracellular matrix remodeling implicated in ARMD predisposition.
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18:45 - 19:00
V. Xeneli
Allele distribution of the 2A-Serotonin-Receptor Common Variant, rs1328674, in Patients Resistant to Antipsychotic Therapy
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19:00 - 19:15
R. Latsi
Population Based Analysis of the Frequenting of HFE Gene Polymorphisms: Correlation with the Susceptibility to Develop Hereditary Hemochromatosis.
Hereditary Hemochromatosis is an autosomal recessive genetic disease, characterized by excessively increased dietary iron absorption. Due to the absence of an effective excretory mechanism, the excess iron in the body may accumulate resulting to toxic effects. The HFE gene also affects the activity of hepcidin, a liver hormone which acts as a negative regulator in iron metabolism. In this study, we investigated the distribution of three hemochromatosis related polymorphisms on the HFE gene (rs1800562, rs1799945 and rs1800730) in a Greek population sample. DNA from 1446 non related individuals was collected and analyzed, either from whole blood or buccal swabs. The frequency distribution of these HFE gene polymorphisms was determined. Results suggest that Southeast European Caucasians from Greece may differ genetically from northern European populations, due to neighboring Asian and African population influences. Furthermore, no gender associated inheritance of these polymorphisms was detected. Gender specific symptoms appear because of independent biological processes. An early by genotypic check of specific polymorphisms, may contribute to early diagnosis of iron accumulation tendency and susceptibility to develop Hereditary Hemochromatosis.
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19:15 - 19:30
V. Desiniotis
Prevalence of Antioxidant Capacity Genes in a Greek Population Sample
Oxidative stress is a result of the imbalance of two opposing procedures. The first is the pro-oxidant state, which creates reduced oxygen species and free radicals and the other is the antioxidant which regulates the defence mechanisms that facilitate the detoxification of the reactive species and their products. Alterations in genes encoding key enzymes of the pro- and antioxidant process, such as GSTM1 and SOD2 may affect the reactive oxygen species equilibrium in various ways. Gene mutation carrying individuals, tend to present alarming levels of free radicals, resulting in toxicity and/or resistance to cancer treatment drugs. A population-based distribution analysis of ten oxidative stress-related polymorphisms was performed. The frequency distribution of these polymorphisms, that may contribute to drug toxicity of platins and anthracyclines, was evaluated by the use of Total Genotype Score, (TGS), a novel specific algorithm created in order to calculate individual toxicity susceptibility. TGS may contribute to predict toxicity of oxidative stress related drugs and determine the best fitting dose on an individual level, therefor highlighting the evident necessity for personalized diagnosis and medicine.
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19:30 - 19:45
P. Dimitriou
Frequency Distribution of Vitamin D Receptor Gene (VDR) Alterations in 1465 Caucasian Volunteers and Implications in Personalized Treatment.
Vitamin D is a hormone with endocrine and paracrine functions. Its active form, 1,25(OH)2D3 (calcitriol), binds to the Vitamin D Receptor (VDR) and regulates the transcription of target genes, such as osteocalcin gene and cathelicidin gene. In this way, Vitamin D regulates respectively the procedures of both bone formation and resorption while it contributes to the normal function of our immune system. The presence of polymorphisms in the gene that encodes VDR can change its transcriptional activity and affect bone mineral density and our immune responses to some bacteria. In our study, we investigated the frequency distribution of the polymorphisms rs1544410 (BsmI), rs2228570 (FokI) and rs731236 (TaqI) of the VDR gene in 1465 Caucasian volunteers. Statistical analysis showed that a large proportion of our population carries one or more of the mutant alleles of the above alterations. Interestingly, the mutant allele of rs2228570 that leads to increased absorption of vitamin D appears in 80% in our sample. According to the results of this study, we conclude that monitoring of vitamin D levels and DNA genotyping must become future perspectives of clinical practice promoting in this way the individualization of vitamin D therapy.
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The artist Antonis Tsoulos comments with his camera on Alzheimer’s disease.
“It is a monster disease, leaving you breathless.
The patient’s body lives within contradictions – sometimes in contact with the environment, other times with no contact whatsoever.
Despite the strength of the disease, the people involved fight against it, trying to communicate.
The patient reaches out to him asking for contact with life, for life is happiness”.
A. Tsoulos, 2003

10:30 - 11:15 (Keynote lecture)
M.L. Dahl
Clinical Pharmacogenetics in Psychiatry
Great expectations have during the last decades been posed on pharmacogenetics as a tool for individualized pharmacotherapy. The early developments in this field dealt with drug metabolising enzymes, in particular cytochrome P450s CYP2D6, CYP2C19 and CYP2C9, all shown to be genetically regulated, allowing individuals to be classified as poor, intermediate, “normal” extensive metabolisers, and in some cases ultrarapid metabolisers. The possibility of predicting an individual´s dose requirement by genotyping, with the prospect of avoiding time consuming dose adjustments, adverse effects and therapeutic failures was early introduced. The metabolism of most drugs is, however, not catalyzed by one enzyme only but by several CYPs e.g. CYP1A2 and CYP3A4/5, or other enzymes such as UGTs, showing not only large inter-individual but also intra-individual differences in activity. In psychiatry, polypharmacy is common and drug-drug interactions thus a major cause of pharmacokinetic variability. Gender, age, ethnicity and other diseases also influence pharmacokinetics. Moreover, even with the same drug exposure, individuals respond variably. The pharmacodynamics of most drugs is complex and, similar to kinetics, influenced by genetic, constitutional and environmental factors. The pharmacogenetics of drugs in psychiatry will be discussed, with focus on clinical relevance.
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10:15 - 11:45
A. Siatouni
SCN1A Polymorphism Depending Therapeutic Response Analysis of Greek Patients with Complex Partial Seizures
Clinically, SCN1A is the most relevant gene connected to epilepsy. A large number of epilepsy related mutations have been characterized. Genetic polymorphisms in the coding area of the gene may lead to generalized epilepsy, expressed by febrile seizures plus and a range of childhood epileptic encephalopathies. The role of 3 common drug-response correlated mutations of SCN1A gene were investigated. DNA samples from responsive to therapy and from drug resistant patients with epilepsy were analyzed by real time PCR to evaluate drug efficacy related polymorphisms of SCN1A gene. All samples were de-identified and anonymized after patients had signed an informed consent. Individuals carrying certain SCN1A gene haplotypes may be more responsive to antiepileptic therapeutic agents. Early SCN1A gene genotyping may contribute to dosage individualization of antiepileptic drugs.
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11:45 - 12:00
Ν. Refenes
Molecular Pathogenesis of Parkinson Disease: Insights from Genetic Studies
While many pieces of the puzzle depicting the molecular pathogenesis of Parkinson's disease (PD) have been discovered, the etiopathogenesis of sporadic PD remains elusive. The PD genes discovered so far by linkage, association and GWAS studies point to molecular pathways of α-synuclein aggregation and protein handling/mishandling, mitochondrial dysfunction, synaptic transmission/axonal functions, neurotrophins, and gene expression data support the implication of energy pathways, but how all these components tie together is still enigmatic. The challenge now is to elucidate the contribution of PD-associated pathways with known effects to α-synuclein-induced neurodegeneration and to differentiate the pathways modifying general neurodegenerative mechanisms from the ones that are unique to PD and thus provide a target for drug development. In this review we discuss the pathogenic role and intracellular fate of the candidate molecules associated with onset and progression of PD, the proteins tau and α-synuclein, and recent advances in understanding mitochondrial dysfunction in PD.
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12:15 - 12:30
M.S. Katsarou
How do Genes Correlate with Intelligence?
Human intelligence characteristics, such as perception, learning and adaptation were correlated with known genetic polymorphisms. 80 Greek volunteers of known high IQ (MENSA IQ TEST) score and 794 volunteers of general population were examined. Following volunteer’s informed consent undersigning, samples were deidentified and anonymized. Samples were analyzed using real-time PCR. Gene frequencies and the minor allele frequencies (MAF) were calculated. Preliminary data show that personality characteristics, derived genetically by combined genomic polymorphism determination, may have a close relationship to data derived from established IQ tests, indicating a genetic basis of intelligence characteristics.
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12:30 - 13:00
D. Karadima
Advances in Genomics that Lead to Personalized Management of Mental Disorders in Daily Clinical Practice
Most severe and enduring mental disorders are moderately to highly heritable. As clinicians we are responsible for the overall management of mental disorders. That is first of all prevention, with an effort to reduce risk factors leading to the development of mental disorders and secondly the pharmaceutical treatment of the severe and enduring mental disorders. To examine genetic etiology of severe and enduring mental disorders is important for the prevention, expression of psychopathology and the daily clinical management of service users. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. There are studies using genome-wide genotype data from the Psychiatric Genomics Consortium for service users with schizophrenia, bipolar disorder, major depressive disorder, developmental spectrum disorders . The emerging genetic architecture implies a large number of contributing loci and suggests that genetic risk of mental disorders involves the combined effects of many common variants of small effect, as well as rare and de novo variants of large effect. We aim to highlight recent progress that has led to a better understanding of the implementation of the findings from genetic studies in the daily clinical practice. As clinical doctors we are interested in and more specifically in the pharmacokinetics of the medications commonly used in the management of severe mental disorders.
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13:00 - 13:30
D. Vassilacopoulou
New Aspects of L-Dopa Decarboxylase Biology
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14:30 - 15:15 (Keynote lecture)
K.H. Seeger
The Relevance of Molecular Genetic Advances in Diagnostic and Treatment of Childhood Acute Leukemia

15:15 - 15:45
A. Haliassos
IFCC Online PT-DB project: Meeting the Clients with the Producers on Proficiency Testing of Rare Analyses and Companion Diagnostics
The Task Force on Proficiency Testing (TF-PT) of the International Federation of Clinical Chemistry (IFCC) is a multidisciplinary effort in the analysis and the exploration of the Proficiency Testing or External Quality Control (EQA) issues. The main project of the TF-PT is the creation of an online database - web application (DB) accessible via web browsers but also via specific applications for the major mobile platforms with much more functionalities and ease of use. The roots of this database will be the analytes (tests, measurands) that will be filed with all possible synonyms, one of them will be the "official" as proposed from the Nomenclature, Properties and Units (C-NPU) committee of the IFCC, as also as the corresponding measurement methods (assays, instruments, reagents etc) also with all possible synonyms. Another part of the DB, will be the PT providers section containing all their contact information, their programs with the analytes, frequencies, type of statistics, commutability of control materials, their accreditation or certification status etc. All register users can add any term in the database, although the application will propose similar ones if there are already filed, searching all the possible synonyms, and if there is already filed they can "vote" expressing their desire for the introduction of a PT for this analyte. Afterwards, automated algorithms with well-defined thresholds will send request to appropriate PT providers, if an analyte has exceeded the limit of the required votes. This will help IVD manufacturers as they want to establish such PT schemes prior to the introduction of new assays, as requested for the personalized medicine and the companion diagnostic assays. Moreover, the database can be used for the tasks of harmonization project of the AACC. In conclusion, the database in development from the TF-PT will interactively link the laboratory professionals - final users of the tests with PT providers, IVD manufacturers, accreditation bodies etc and will facilitate the search for a PT scheme for "rare" esoteric or new analytes, or the introduction of a new one if needed.
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15:45 - 16:00
Α. Papanikolopoulou
The Use of Oral Glutamine in the Prevention of Radiation Induced Adverse Effects in Patients with Thoracic and Upper Aerodigestive Malignancies
In cancer patients marked glutamine (gln) depletion develops over time. Host tissues (epithelial cells of the aerodigestive tract and lymphocytes) that depend upon adequate stores of gln for optimal functioning can be negatively influenced. Additionally radiation and/or chemotherapy cause normal tissues damage that might be enhanced by this depletion effect. Both these facts support a possible therapeutic role for gln in the prevention of host normal tissue toxicity during cancer treatment. Within the last two decades, many clinical studies evaluated the safety, tolerance, and effects of gln supplementation (oral & parenteral) in patients with Thoracic and Upper Aerodigestive Malignancies (T&UAM). Both forms of gln supply showed beneficial effect as far as grade and duration of mucositis and esophagitis are concerned and also in the reduction of gut permeability and weight loss. In a prospective manner, we studied 72 patients with T&UAM treated with sequential or concurrent radio-chemotherapy or radiation alone. They were all treated with 3D conformally planned radiation techniques on Linear Accelerator to a total dose of 50-70Gy in 2-2.5Gy/fraction. All patients received prophylactic Gln powder in doses of 15g bid for the total duration of treatment. The severity of different acute radiation toxicities was graded according to RTOG/EORTC criteria. The primary end points were the incidence of grade 2 or greater in the observed toxicities, the incidence of weight loss and the need for analgesic therapy. According to our results the use of oral Gln may have an important role in the prevention of acute radiation toxicities, the weight loss and the need for analgesics in patients with T&UAM especially if the treatment plan includes CT and RT. More randomized trials will help to identify the appropriate duration of treatment with Gln supplementation and precise dosimetric parameters which will indicate the group of patients who will benefit more in order to optimize its protective effect.
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16:00 - 16:30
C. Mavragani
Sjogren’sSyndrome and Lymphomagenesis: From Genes to Pathophysiology
Primary Sjogren’s syndrome (pSS) is a common chronic autoimmune disease affecting 0.5-1% of population. It is characterized by lymphocytic infiltration of exocrine glands mainly salivary and lacrimal resulting in oral and ocular dryness, although any organ system can virtually be affected. A cardinal feature of primary SS is B-cell hyperactivity, manifested by the presence of hypergammaglobulinemia and various autoantibodies with B-cell activating factor (BAFF), a survival factor for B-cells, being a central contributor. Approximately 10% of patients have increased risk for B-cell lymphoma development and high mortality rates. The underlying pathogenetic events leading from benign autoimmunity to malignant transformation remain elusive, although genetic contributors, such as mutations of p53 gene, t(14:18) translocation as well as variants of the B-cell activating factor (BAFF) gene, a recently described His159Tyr mutation of its receptor (BAFF-R), and a mutation of the tumor necrosis factor alpha-induced protein 3 (TNFAIP3) gene -an NF-κB pathway regulator-, have been also been associated with SS MALT lymphomagenesis. Furthermore, epigenetic alterations mainly involving methylation pathways and DNA-repair mechanisms, recently proposed as important pathogenetic contributors for both autoimmune disorders and cancer development have been also shown to contribute in pSS related lymphomagenesis.
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16:30 - 16:45
Ν. Soureti
Angiogenic Markers for Personalized Therapy of Gynecological malignancies.
Anti-angiogenic therapies have a clear role in the treatment of gynecologic cancers. In 2014, the FDA approved the use of bevacizumab in advanced cervical cancer and platinum-resistant ovarian cancer, providing viable options for high-risk subgroups that previously had none. For most patients with gynecologic cancers, the response seen with anti-angiogenic therapy is unlikely to result in cure, and exploration of alternate therapies remains necessary. The discovery of new therapeutic agents and inevitably longer disease-free intervals will give rise to a new population of gynecologic cancer survivors, who will present novel challenges. Multimodal treatment strategies that include surgery, CT, radiotherapy, anti-angiogenesis therapy, and immunotherapy will allow patients with gynecologic malignancies to maximize their survival potential.
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16:45 - 17:15
N. Salakos
To be announced

17:30 - 18:15 (Keynote lecture)
S. Moschos
Making a Difference: Leveraging Innovation to Meet Clinical Need
Personalised therapy is a clinical reality transforming patient care into a new paradigm of medicine fit for the technological realities of the 21st century. Central to these advances is our ever deepening understanding of how multifarious genetic variations and transcriptomic changes in coding and non-coding loci can be individually and jointly causal to disease. However, to date, there is no single DNA / RNA analytical method that can be truly undertaken in a laboratory infrastructure-free manner similar to blood glucose measurements. The Ebola virus disease outbreak in West Africa demonstrated clearly the need for bringing reliable RNA diagnostic tests to the patient: containment was achieved through mobile laboratory deployment of real time quantitative RT-PCR assays. The EbolaCheck consortium thus explored whether these assays can be performed directly on an unprocessed blood sample in an laboratory-free manner. This talk will cover the 12-month journey in developing QuRapID, an open access platform that quantifies known RNA and DNA targets in as little as five microliters of a fresh biofluid sample with comparable sensitivity and specificity to the lab based procedure. Applications in cancer diagnosis, septicaemia and gene therapy pharmacology will be discussed.
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18:15 - 18:30
Α. Chrissikou
Sensitive DNA-Array Detection and Typing in Asymptomatic Partners of HPV Infected Individuals
Human Papilloma Virus (HPV) is a sexually transmitted DNA-virus, which infects the skin and mucous membranes of the anogenital area and oropharynx. In many cases an HPV infection does not result in inflammation, the virus lie dormant into the cell and this is called atypical HPV. Assuming that all asymptomatic carriers may transmit HPV to their sexual partners a study was conducted to detect and identify HPV subtypes in asymptomatic heterosexual partners of individuals with diagnosed cutaneous genital lesions. Epithelial samples from the genital area were collected from both symptomatic and asymptomatic partners and after DNA extraction were analyzed with multiplex Polymerase Chain Reaction and Hybridization with DNA arrays. HPV infection was detected in 81,25% of asymptomatic sexual partners, demonstrating that HPV may be transmitted to partners of sexually active couples. The infected partners although asymptomatic should undergo therapy in order to diminish Ping-Pong effect.
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18:30 - 19:00
E. Fora
Prevalence and Clearance of HPV Infection in Oral Rinse Samples from Healthy Subjects in Greece
Nowadays, HPV is considered to be the most common sexually transmitted disease and its causal role in cervical and other anogenital malignancies is well established. At the same time, a considerable fraction of oropharyngeal and oral cancers has proved to be HPV-related, stimulating scientific community’s interest in investigating the prevalence of HPV infection in oral cavity. However, natural history of oral HPV infection such as incidence in clinically healthy oral mucosa, duration of infection and ultimate development of cancer is not yet clearly understood. To the best of our knowledge, this is the first study in Greece which investigates the prevalence and the clearance of the viral infection in the oral cavity of asymptomatic healthy individuals.
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19:00 - 19:30
H. Maltezou
The cocooning strategy: vaccinating mothers in order to protect their young infants.
In public health the term “Cocooning strategy” refers to the early post-partum immunization of family members and close contacts of neonates and young infants against vaccine-preventable diseases that are associated with serious morbidity, complications or even death during infancy. The rationale for the cocooning strategy is based on the fact that young infants almost always contract such infections from their household members and thus their immunization is expected to indirectly protect the young infants through “herd immunity”. The cocooning strategy is increasingly implemented against seasonal influenza and pertussis in many countries. In this presentation, the impact of the early post-partum cocooning strategy against influenza and pertussis in preventing the associated morbidity and costs will be reviewed. The respective advantages and challenges in terms of public health implications will be addressed as well.
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10:00 - 10:45 (Keynote lecture)
S. Chang
The New Frontier in Pharma Innovation: Personalized Medicine through Industry Convergence and Big Data
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10:45 – 11:15
T. Bilalis
Medical Informatics in Personalized Medicine
The increasingly aging population, prevalence of chronic diseases and the continuous transition to value-based healthcare, have introduced new challenges to life professionals and engineers actively researching for innovative solutions for a) disease prevention and b) personalized diagnosis and treatment, harnessing medical informatics technologies such as Internet of Things (IoT), POCT, EHR and big data. From the healthcare consumer perspective, control has shifted to the individual (patient-centric) and must continue to do so. Living in the digital age, biased from social networks, patients ask for accessibility to their medical information and services from anywhere, 24x7. They expect easy to understand reports, helping them take active roles in managing their own healthcare. Use of smart IoT devices in clinical development, supply chain and patient engagements, helps also to reduce time-to-market for drugs while proactively detects errors, by utilizing consumer real-time feedback. Data from wearable devices can be used by GPs to prescribe personalized medicines with safer drugs and reduced ADRs. This presentation introduces the state-of-the-art technologies in this emerging field of preventive medicine and personalized healthcare. It includes advancements in wearable medical sensors, machine learning & data analysis, personal information management systems, and future infrastructures for managing healthcare ubiquitously and unobtrusively.
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11:15 - 11:45
A. Sideri
Pharmacogenovigilance
Pharmacogenovigilance, defined as Pharmacovigilance (PV) activities guided by pharmacogenomics (PGx) analyses, combined with Big Data offers new ways to rethink biomarker development strategies for rational drug design, so that only the biomarkers that survive testing in real-life are further invested in for personalized healthcare. Understanding genetic regulation of drug response and disposition can be used to identify new therapeutic targets, manipulate known targets and direct therapy to conditions in which a better/safer response is probable. Furthermore, genetic insights in the pharmacokinetic and pharmacodynamic performance of drugs in population extremes, such as in poor and ultrarapid metabolizers can address dosing regimens, lack of drug efficacy, medication adherence from a population scale overview, as well as, the extrapolation of signals on drug-related events among populations. The cost-effectiveness of this strategy is obvious for pharmaceutical R&D and the healthcare system overall. The clinical implementation of Pharmacogenovigilance up to 2012 has revealed genetic variants that affect response to a great variety of drugs and can determine the progression/management of the underlying disease, as well as, the incidence of adverse drug with obvious societal benefits. The future challenge will be to address the interplay of genomic and environmental influences regarding disease heterogeneity and variations in drug response under real-life conditions.
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12:00 – 12:30
J. Anastassopoulou
Infrared Spectroscopy as Diagnostic Tool in Personalized Medicine
Infrared spectroscopy is a simple, easy and non-destructive physicochemical method. It is based on the interaction of infrared light with the matter. Infrared spectroscopy can provide information on isolated materials, biomaterials, such as biopolymers as well as biological materials, connective tissues, single cells and in general biological fluids to give only a few examples. Our long-term research has shown that the method can be used in medicine as diagnostic tool, as well as for the disease progression. The method was used successfully for the study of cancerous tissues (breast, colon, skin, etc.), metastatic cancer, cardiovascular system, in bone diseases and their aging, blood dyscrasia and muscle deformity in childrens. The advantages of the method are summarized in the small size of the sample a few μm or μL, and it does not need any treatment of the sample.
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12:00 - 12:50
S. Graphakos
Hematpoietic stem cell transplantation
Haematopoietic stem cell transplantation (HSCT) is an important curative treatment for patients with life threatening haematological, neoplastic and genetic diseases, widely applicable, with more than 14000 allogeneic HSCT performed last year in Europe. After conditioning with chemotherapy, donor haematopoietic cells are infused to the recipient to reconstitute normal haemopoiesis. Additionally, immune T-cells of the graft induce immune reactions to control or eradicate the underlying disease (Graft-versus-leukemia effect, GVL). Results are satisfactory, especially in children and for non-malignant haematological diseases (aplastic anaemia, primary immunodeficiencies, thalassaemia etc), survival is between 75-95% and for leukemia 55-75%. Despite improvement in supportive care, infections, Graft-versus-host disease (GVHD), organ toxicity and relapse are still important problems. Histocompatible sibling is the best donor, however, only 30% of patients could find such a donor. Molecular HLA typing and millions of volunteer unrelated donors (VUD) worldwide, led to a remarkable increase of matched VUD transplants with outcomes comparative to those with sibling donors. Alternative options of haematopoietic stem cell sources are umbilical cord blood (CB) and HLA haploidentical family donors who are readily available for nearly all patients. T-cell depletion strategies, co-infusion of mesenchymal stem cells and other cellular immunomodulators have shown to promote engraftment, prevent GVHD, accelerate restoration of immunity, reduce leukemic relapse and improve survival after HSCT.
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P/O-1
Genetic Predisposition to Obesity and Metabolic Syndrome:
The Clinical Effectiveness of Pioglitazone.
G. Simeakis^1,2, V. Vasileiou², N. Drakoulis³, M.S. Katsarou³, E. Zapanti², J. Koutsikos⁴,K. Athanasiou⁴, K. Saltiki¹, M. Alevizaki¹, E. Anastasiou².
¹Endocrinology Unit, Clinic of Therapeutics, Medical School, University of Athens
²Endocrinology Dept., Alexandra Hospital, Athens
³Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, National and Kapodistrian University of Athens 4Dept. of Nuclear Medicine, 401 Military Hospital of Athens
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P/O-2
How do genes influence personality.
Nikolaos Naziris, Nikolaos Drakoulis,
Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, National and Kapodistrian University of Athens
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P/O-3
The effect of demographic and environmental factors on the in vivo activity of CYP1A2 and NAT2 drug-metabolizing enzymes in Greeks.
Elias Begas¹, Thomas Kilindris², Vassiliki Tsiokou¹, Evangelos Kouvaras¹, Eftihia Asprodini¹.
¹Laboratory of Pharmacology, Department of Medicine, University of Thessaly, Larissa, Greece.
²Laboratory of Medical Physics, Department of Medicine, University of Thessaly, Larissa, Greece.
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P/O-4
Frequency distribution of Arg389Gly polymorphism in a Greek population.
Aikaterini Karathanassopoulou, Aggeliki Andrianopoulou, Martha-Spyridoula Katsarou, Vasileios Dessiniotis, Nikolaos Drakoulis.
Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, National and Kapodistrian University of Athens
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P/O-5
Impact of Common Genetic Variants on the Statin and Fibrate Treatment in a Sample of 1094 Greek Volunteers.
Nikolaos Varakliotis, Periklis Daskalakis, Martha-Spyridoula Katsarou, Nikolaos Demertzis, Nikolaos Drakoulis.
Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, National and Kapodistrian University of Athens
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P/O-6
Thrombophiliae Pharmacogenomics: A patient centered approach of classic treatment pathways.
Christos Tsagkaris.
Medical Department, School of Health Science, University of Crete
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P/O-7
Genetic analysis of the ACVRL1 gene in a large Greek family with HHT.
Papanikolaou Christos, Anastasiou Georgios, Kyriakou Despoina.
Laboratory of Hematology and Transfusion Medicine, University Hospital of Larissa, University of Thessaly, Larissa, Greece.
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P/O-8
Allele distribution of the 2A-Serotonin-Receptor Common Variant, rs1328674, in Patients Resistant to Antipsychotic Therapy
Xenelli V.¹, Katsarou M.¹, Karadima D.², Tsopelas C.², Touloumis C.², Drakoulis N.^1
1Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, National and Kapodistrian University of Athens.
²Attica’s Psychiatric Hospital “Dafni”
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P/0-9
Relationship of GST, SOD, EPHX1, CAT and GPX1 gene polymorphisms with susceptibility of disease development in a Caucasian population from Greece
Papadimitriou A., Giakoumaki M., Katsarou M., Demertzis N., Drakoulis N.
Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, National and Kapodistrian University of Athens.
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P/0-10
Association of COL1A1, COL5A1, MMP1 gene polymorphisms with skin metabolism in a Greek population.
H. Vounta, O. Bimi, M. Katsarou, T. Kalogridis, V. Desiniotis N. Drakoulis.
Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, National and Kapodistrian University of Athens.
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P/0-11
Trigeminal neuralgia Diagnosis and Therapy.
Atzemian P.
Dental Surgeon
Member of UNESCO
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14:00 – 15:00
Career Pathways in a CRO: Dynamic environment - Rewarding Career
A. Sideri (Organized by ZEINCRO)
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15:00 - 16:00
CYPRO (Klaus Meier, Hamburg)
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