Medical Biotechnology

Activity type

Medicina di laboratorio e diagnostica

SSD

BIO/12

Year

N/D

Semester

N/D

CFU

2

Hours distribution

16 classroom hours

Lecturers

MARCO LUCARELLI

Activity type

Discipline biotecnologiche comuni, Attività formative affini o integrative

SSD

MED/04, MED/04

Year

N/D

Semester

N/D

CFU

2

Hours distribution

16 classroom hours

Lecturers

GIUSEPPE GIANNINI

Activity type

Medicina di laboratorio e diagnostica

SSD

MED/08

Year

N/D

Semester

N/D

CFU

4

Hours distribution

32 classroom hours

Lecturers

MARA RIMINUCCI
ALESSANDRO CORSI
GIAN LUCA RAMPIONI VINCIGUERRA

Activity type

Discipline medico-chirurgiche e riproduzione umana

SSD

MED/36

Year

N/D

Semester

N/D

CFU

1

Hours distribution

8 classroom hours

Lecturers

ALBERTO SIGNORE

Laboratory and molecular diagnostics
Providing the foundation of knowledge of the general principles and techniques most commonly used in molecular diagnosis of human diseases.
Learning the principles and purposes of laboratory and molecular diagnostics in biotechnology applied to medical diagnostics. Understanding of the potential and limitations of the biomolecular approach, both qualitative and quantitative. Understanding of the purpose, potential, and limitations of high-throughput automated approaches. Practical application to specific genetic diseases.

Molecular diagnostics and imaging
Acquisition of the methodologies to choose the best and safest molecular diagnostic techniques for tissue application for the purpose of personalized cancer treatments.
The field of interest of “Pathology”
Distinction between “clinical” and “pathological diagnosis”
Awareness of the techniques commonly used for a histological diagnosis
Learning of basic notions on radioisotopes, radiopharmaceuticals and instrumentation for in vivo molecular imaging with radiolabelled or fluorescent probes.

Learning of principles and aims of laboratory, molecular and imaging diagnostics in the biotechnologies applied to medical diagnostics. Learning of the critical vision of the main application fields: infectious, genetic, neoplastic and inflammatory diseases, farmacogenomics.

In order to understand properly the teaching content and to achieve the expected learning objectives, at the beginning of the didactic activity the student must possess the basic knowledge acquired during the frequency of previous courses in the field of cellular and molecular biology, biochemistry, embryology, anatomy, histology, general pathology and pathological anatomy.

Module:
General subjects.

Fundamentals of molecular medical diagnostics. The methodologies for studying structural and functional gene variations. Main instruments used in molecular medical diagnostics.


Specific subjects.

Potential and limits of the qualitative, quantitative and automated high throughput laboratory approach. Fundamentals of molecular medical diagnostics. Search and interpretation of DNA sequence variations. Use of molecular information for diagnostic, prognostic and therapeutic purposes. Concept of detection rate and mutational search of I, II, III and IV level. Nomenclature, classification and functional characterization of mutations. The epigenetic modifications of DNA. Structural, dynamic and functional aspects related to DNA methylation. DNA sequence variation search methodologies: ARMS, allelic discrimination, direct and reverse hybridization, PCR / OLA / SCS, minisequencing (SNaPshot). Automated DNA sequencing by cycle sequencing (Sanger method), pyrosequencing and next generation sequencing (NGS) approaches. Analysis of gene dosage: methodologies for investigating large deletions and duplications by MLPA. Automation in molecular and cellular diagnostics: liquid handlers, genetic analyzers, haematological analyzers and related software. Methods of DNA methylation analysis: HpaII / PCR, MS-MLPA, bisulfite / cloning / sequencing, RRBS, RLGS. Applications to molecular diagnosis of: pre-mRNA splicing diseases, cystic fibrosis, thalassemia, hemoglobinopathies, familial hypercholesterolemia, diseases of abnormal DNA methylation. Practical design and critical evaluation of molecular diagnostic tests.


Module:
Brief overview of genetic pathology. Review of the most relevant methodological achievements in molecular biology/molecular genetics.
Methods to detect structural and numerical chromosomal aberrations.
Methods to detect DNA rearrangements.
Methods to detect point mutations.
Set-up of pathology-related mutational screenings.
Evolution of Sequencing technologies.
Application of mutational screening approaches to different medical issues, with a particular focus on molecular oncology.
High throughput molecular methods in molecular oncology.



Module:
Molecular pathology and molecular diagnosis: general principles and techniques. Molecular analysis of formalin-fixed, paraffin embedded tissues. Papilloma Virus infection and human diseases: cellular and molecular mechanisms, natural history, pathology and molecular diagnosis. Role of molecular diagnosis in soft tissue sarcomas. Molecular analysis in the diagnosis and prognosis of tumors of the haematopoietic and lymhoid tissues. Molecular analysis in the diagnosis and study of genetic skeletal disease, in particular Fibrous dysplasia of bone.
Histological and molecular diagnosis of major malignant epithelial neoplasms: pancreatic ductal adenocarcinoma, non–small cell lung carcinoma, colorectal carcinoma, and breast carcinoma. Analysis of preneoplastic lesions, molecular pathogenesis, and the role of the tumor microenvironment. Study of histological markers of prognosis and therapeutic response. Insights into translational research, from bench to bedside.


Module:
Nuclear medicine instrumentation: key differences between nuclear medicine and radiology, collimators, linear scanners, gamma cameras, and PET.
Radiopharmaceuticals and radioisotopes: the concept of radiopharmaceuticals and notions of radiochemistry and radiopharmacology. Synthesis of the main iodinated and technetium radiopharmaceuticals. In vitro quality control of receptor imaging in oncology: examples of the preparation and use of radiopharmaceuticals for nuclear medicine diagnostics and therapy; production and use of FDG.
Receptor imaging in infectious diseases: examples of the synthesis of peptide and antibody radiopharmaceuticals for the study of various phases and histopathological aspects related to infectious processes; labeled antibiotics and the labeling of blood cell types.
Receptor imaging in endocrinology: functional imaging, with reference to the use of radiopharmaceuticals for the study of in vivo physiology and pathophysiology; commonly used radiopharmaceuticals for the study of endocrine function.
Other clinical applications of nuclear medicine, particularly in neurology, cardiology, and nephrology. Introduction to radioguided surgery.

Module:
Molecular Diagnostic
W. B. Coleman, G. J. Tsongalis
Humana Press

Human Molecular Genetics
Strachan T, Read . P.
Garland Science

Specific scientific articles suggested by the teacher.


Module:
Molecular Diagnostic
W. B. Coleman, G. J. Tsongalis
Humana Press

Human Molecular Genetics
Strachan T, Read . P.
Garland Science



Module:
Bruns DE, Burtis CA, Ashwood ER. Fundamentals of Molecular Diagnostics. Sanders Elsevier.
Coleman WB, Tsongalis WB. Molecular Pathology. Academic Press.



Module:
Lecture notes and handouts provided by the teacher.

Module:
Scientific articles related to topics included in the program will be recommended as a study tool for integrative purposes to frontal lessons and adopted texts.


Module:
Specific scientific articles might be suggested by the teacher.


Module:
Scientific articles related to topics included in the program will be recommended for integrative purposes to frontal lessons and adopted texts.


Module:
Encyclopedia of Nuclear Medicine (Elsevier publisher; Signore A. Editor) volume 1 and 2

The teaching is based essentially on frontal lessons characterized by a strong interactive component between the teacher and the students. Other teaching methods may include working groups or individual activities focused on the analysis of methods and results of publications in international scientific journals. There are practical sessions and exercises.

Mandatory attendance. The attendance is checked by the teacher by using updated lists provided by the Academic Office that will be signed by the students. The certificate of attendance of the teaching course is required for the student to be admitted to the final test.

The assessment consists of an oral exam with questions related to the course program and takes into account: a) knowledge of the topics related to the questions; b) adequacy of the answer to each question based on the expected skills at the end of the course; c) the logic of the answers; d) use of an appropriate language.

Laboratory diagnosis of Cystic Fibrosis.
Laboratory diagnosis of thalassemias.
Sanger DNA sequencing.
Next generation sequencing.
The MLPA.

Module:

• Mutational search
  • Books: Molecular Diagnostic
    
    
    
    W. B. Coleman, G. J. Tsongalis
    
    
    
    Humana
    
    PressHuman Molecular Genetics
    
    
    
    Strachan T, Read . P.
    
    
    
    Garland
    
    Science


• Sequencing (I generation)
  • Books: Molecular DiagnosticW. B. Coleman, G. J. TsongalisHumana PressHuman Molecular GeneticsStrachan T, Read . P.Garland Science


• Sequencing (next generation)
  • Books: Molecular DiagnosticW. B. Coleman, G. J. TsongalisHumana PressHuman Molecular GeneticsStrachan T, Read . P.Garland Science


• Characterization of sequence variants
  • Books: Molecular DiagnosticW. B. Coleman, G. J. TsongalisHumana PressHuman Molecular GeneticsStrachan T, Read . P.Garland Science


• Haemochromocytometric exam
  • Books: Molecular DiagnosticW. B. Coleman, G. J. TsongalisHumana PressHuman Molecular GeneticsStrachan T, Read . P.Garland Science


• Thalassemias and haemoglobinopathies
  • Books: Molecular DiagnosticW. B. Coleman, G. J. TsongalisHumana PressHuman Molecular GeneticsStrachan T, Read . P.Garland Science


• Cystic Fiborsis
  • Books: Molecular DiagnosticW. B. Coleman, G. J. TsongalisHumana PressHuman Molecular GeneticsStrachan T, Read . P.Garland Science


• Chromatin and DNA methylation
  • Books: Molecular DiagnosticW. B. Coleman, G. J. TsongalisHumana PressHuman Molecular GeneticsStrachan T, Read . P.Garland Science

• Genetic diseases and mutations
  • Books: Molecular Diagnostic W. B. Coleman, G. J. Tsongalis- Humana Press.        Introduzione alla Medicina Molecolare, Ross Dennis W. - Springer.             Human Molecular Genetics, Strachan T, Read . P. - Garland Science


• Methods for the identification of numerical and structural chromosomal aberrations
  • Books: Molecular Diagnostic W. B. Coleman, G. J. Tsongalis- Humana Press.        Introduzione alla Medicina Molecolare, Ross Dennis W. - Springer.             Human Molecular Genetics, Strachan T, Read . P. - Garland Science


• Mutational screening approaches
  • Books: Molecular Diagnostic W. B. Coleman, G. J. Tsongalis- Humana Press.        Introduzione alla Medicina Molecolare, Ross Dennis W. - Springer.             Human Molecular Genetics, Strachan T, Read . P. - Garland Science


• PCR, quantitative PCR and its applications in diagnostics
  • Books: Molecular Diagnostic W. B. Coleman, G. J. Tsongalis- Humana Press.        Introduzione alla Medicina Molecolare, Ross Dennis W. - Springer.             Human Molecular Genetics, Strachan T, Read . P. - Garland Science


• Multiple Ligation Probe Amplification and other innovative methodologies applied to diagnostics in oncology
  • Books: Molecular Diagnostic W. B. Coleman, G. J. Tsongalis- Humana Press.        Introduzione alla Medicina Molecolare, Ross Dennis W. - Springer.             Human Molecular Genetics, Strachan T, Read . P. - Garland Science


• Predictive and prognostic molecular diagnostics in oncology
  • Books: Molecular Diagnostic W. B. Coleman, G. J. Tsongalis- Humana Press.        Introduzione alla Medicina Molecolare, Ross Dennis W. - Springer.             Human Molecular Genetics, Strachan T, Read . P. - Garland Science


• Tecniche di Next Generation Sequencing applicate alla diagnostica oncologica
  • Books: Molecular Diagnostic W. B. Coleman, G. J. Tsongalis- Humana Press.        Introduzione alla Medicina Molecolare, Ross Dennis W. - Springer.             Human Molecular Genetics, Strachan T, Read . P. - Garland Science

• Molecular pathology and molecular diagnosis: general principles and techniques - 3 hours
  • Books: Adopted texts and scientific publications suggested during the frontal lessons. 


• Molecular analysis of formalin-fixed, paraffin-embedded tissues - 2 hours
  • Books: Adopted texts and scientific publications suggested during the frontal lessons. 


• Papilloma Virus infection and human pathology: cellular and molecular mechanisms, natural history, pathology and molecular diagnosis - 3 hours
  • Books: Adopted texts and scientific publications suggested during the frontal lessons. 


• Role of molecular diagnosis in soft tissue sarcomas - 2 hours
  • Books: Adopted texts and scientific publications suggested during the frontal lessons. 


• Molecular analysis in the diagnosis and prognosis of tumors of the hematopoietic system - 3 hours
  • Books: Adopted texts and scientific publications suggested during the frontal lessons. 


• Molecular analysis in the diagnosis and study of genetic skeletal diseases, in particular Fibrous dysplasia of bone - 3 hours
  • Books: Adopted texts and scientific publications suggested during the frontal lessons. 


• Histological and molecular aspects aimed at the diagnosis, prognosis and therapy of pancreatic ductal carcinoma. Translational research implications - 4 hours
  • Books: Adopted texts and scientific publications suggested during the frontal lessons. 


• Histological and molecular aspects aimed at the diagnosis, prognosis and
  therapy of non-small cell lung carcinoma. Translational research
  implications - 4 hours
  • Books: Adopted texts and scientific publications suggested during the frontal lessons. 


• Histological and molecular aspects aimed at the diagnosis, prognosis and
  therapy of colorectal carcinoma. Translational research
  implications - 4 hours
  • Books: Adopted texts and scientific publications suggested during the frontal lessons. 


• Histological and molecular aspects aimed at the diagnosis, prognosis and
  therapy of breast carcinoma. Translational research
  implications - 4 hours
  • Books: Adopted texts and scientific publications suggested during the frontal lessons. 

• Lessons in the second semester
  • Books: Lessons and booklets