Dardiotis Efthimios, Polyxeni Stamati, Tsouris Zisis

Face to face

Lectures

Microsoft (Power Point) software is used during the delivery of the courses.

Ability to communicate with the course supervisor via email

WRITTEN AND ORAL EXAMINATION

Assessment of the acquired knowledge (skills) at the end of the course by the course supervisor in order to summarize the knowledge and skills (this assessment is not included in the final grade)

The material of the course aims to introduce students to the scientific field of Neurogenetics.

The aim of this course is for the student to understand the genetic basis of various neurological diseases and the methodology for its detection.

This course emphasizes that the decipherment of the identity of genetic factors in various neurological diseases contributes to the understanding of the underlying pathophysiology and leads to a definite diagnosis, focused treatment, but also to a safe prognosis and targeted genetic counseling.

Upon successful completion of the course the student will be able to:

• Understand that genetic studies are conducted to investigate possible causal or modifying genes involved in the pathogenesis of various neurological diseases.
• Be aware that the etiology of most neurological diseases remains a complex interaction between genetic and environmental factors.
• Be able to distinguish the modes of inheriting various neurological diseases and the complex patterns of transmission of mitochondrial diseases.
• Use Molecular Biology and Genetics methods to conduct genetic tests aimed at specialized genetic counseling.
• Analyze data from genetic studies linking and correlating causal or modifying genes with the pathogenesis of various neurological diseases.
• Collaborate with his fellow students to research and analyze the international literature.

General Principles of Neurogenetics

• General principles and applications of  Molecular biology in neurologic diseases
• Introduction to DNA, RNA structure and function
• Polymorphisms, mutations chromosomal anomalies
• Classic Mendelian Genetics (Patterns of Inheritance)
• Mitochondrial Inheritance
• Genetics of multifactorial diseases
• Genetic association studies

       Genetics of strokes

• Introduction to strokes
• Evidence for genetic factors that influence lipid metabolism, coagulation, inflammation, and arterial hypertension
• Genetic association studies for ischemic stroke
• Genetic association studies for Hemorrhagic stroke

       Genetics of Amyotrophic lateral sclerosis (ALS)

• Introduction to pathophysiology and clinical types of ALS
• Familial ALS
• Sporadic ALS
• Environmental, epigenetic factors, epistasis for ALS

        Genetics of Parkinson’s and Parkinson-plus diseases

• Introduction to movement disorders (Parkinson’s Disease, Corticobasal degeneration, Progressive supranuclear palsy, Lewy body dementia, Huntington’s chorea, Multiple System Atrophy)
• Monogenic causes of Parkinson’s disease (SNCA, LRRK2, Parkin, PINK1, DJ‐1, ATP13A2, UCHL1, GIGYF2, HTRA,VPS35, EIF4G1, TMEM230, CHCHD2, RIC3, PRKN, SYNJ1, VPS13C, MART genes)
• Genetic risk factors of Parkinson’s disease (evidence from case-control studies, GWASs)
• Genetic architecture of Corticobasal degeneration
• Genetics of Progressive supranuclear palsy (role of MAPT and LRRK2 genes)
• Genetics of Lewy body dementia
  • Role of  PD – associated genes (SNCA, LRRK2, GBA),
  • Role of AD – associated genes (PSEN1, PSEN2, APP, APOE, MAPT)
  •  Genetic risk factors (GBA and APOE genes)
• Genetics Huntington’s disease (ΗΤΤ gene)
• Genetics of Multiple System Atrophy:
  • 1) Role of coenzyme Q2,
  • 2) Evidence from GWAS for SNCA, FBXO47, ELOVL7, EDN1 and MAPT genes
  • 3) Role of genes associated with ataxia, PD, oxidative stress and neuroinflammation

       Genetics of polyneuropathies

• Introduction to hereditary polyneuropathies
• Genetic architecture of  Charcot‐Marie‐Tooth (CMT)
• Other hereditary polyneuropathies (Hereditary sensory neuropathy, Distal hereditary motor neuropathy, Leukodystrophy Familial amyloidosis, Fabry disease, Refsum disease, Tangier disease, Mitochondrial disorders)

      Genetics of Multiple Sclerosis  

• Introduction to multiple sclerosis
• Environmental, genetic and epigenetic factors
• The importance of HLA locus in multiple sclerosis
• Data from GWASs, association studies, meta-analyses
• Polymorphisms in SELP, ITGA4, ITGB1, ITGB7, ICAM1, VCAM1, MADCAM-1, FN1) και SPP1 genes

      Genetics of Dystonia

• Dystonia-introduction
• Monogenic forms of Dystonia (TOR1A, HPCA, TAF1, TUBB4A, TH, GCH1, THAP1, MR1, PRRT2, SGCE, ATP1A3, GCH1, PRKRA, SLC2A1, CACNA1B, ANO3, GNAL, KCTD17, COL6A3, KMT2B, MECR genes)
• Genetic risk factors for dystonia (TOR1A, BDNF, DRD5, APOE, ARSG, NALC, OR4X2, COL4A1, TH, DDC, DBH, MAO, COMT, DAT, GCH1, PRKRA, MR-1, SGCE, ATP1A3, TAF1, THAP1, GNAL, DRD2, HLA-DRB, CBS, MTHFR, and MS genes)
• Evidence from genetic case-control studies
• Evidence for GWASs WES studies

       Genetics of essential tremor and ataxias 

• Essential tremor-introduction
• ΕΤΜ1, ΕΤΜ2, ΕΤΜ3 genetic loci
• Role of LINGO1, LINGO2, LINGO4, SLC1A2, DRD3,   ALAD, VDR, HMOX1, HMOX2, LRRK1, LRRK2, GBA, SNCA, MAPT, FUS, CYPs IL17A, IL1B, NOS1, ADH1B, MTHFR, GABAAR, GABA transporter, HNMT, ADH2, TREM2, PPARGC1A, RIT2, CTNNA3, STK32B, TREM2, HS1BP3, CACNL1A4, PPP2R2B genes
• Data from GWASs
• Genetics of SCAs
• Genetics of Friedreich ataxia

       Genetics of Hereditary Spastic paraplegias

• Introduction to hereditary spastic paraplegias (HSP)
• Genes and genetic loci associated with dominant and recessive HPS
• SPG4 Locus  

      Genetics of Dementia

• Introduction to dementias
• Alzheimer’s Disease
• Environmental, genetics and epigenetics factors for Dementia
• Monogenic types of Alzheimer’s Disease  (APP1, PSEN1, PSEN2 genes)
• Genetic risks factors for Alzheimer’s Disease, Role of APOE and TREM2 genes

      Genetics of Mitochondrial disorders

• Mitochondrial disorders Νοσήματα

• Mutations in mitochondrial DNA

     Genetics of Neuromuscular disorders

• Introduction to genetic neuromyscular disorders
• Myotonic dystrophy type 1 (DM1)
• Myotonic dystrophy type 2 (DM2)
• Genetics of spinal muscular atrophy (SMA)

       Laboratory Techniques

• DNA isolation
• Polymerase Chain Reaction (PCR)
• Restriction fragment length polymorphism(RFLP)
• Real‐Time PCR
• DNA sequencing
• Fragment analysis
• Multiplex Ligation‐dependent Probe Amplification (MLPA)
• MS‐MLPA (Methylation Status‐MLPA)

 Στοιχεία Νευρογενετικής Η κλινική Πρακτική

Έκδοση: 1/2017