Clinical Biochemistry and Molecular Biology
A.Y. 2024/2025
Learning objectives
Aim of the course is to describe the role of clinical biochemistry and clinical molecular biology tests in Laboratory Medicine, with regards to acquired and inherited diseases. Clinical trials, basic researches and technological advances are treated in relationship with the predisposition to illnesses, clinical diagnosis and monitoring, with particular attention to the traditional and novel therapies.
Expected learning outcomes
By the end of the course the student will acquire:
- Knowledge on the role of laboratory tests in the management of the most common human diseases
- Knowledge on the interpretation of laboratory test in Laboratory medicine
- Personal critical opinion on the development of novel biomarkers and related diagnostic products.
- Knowledge on the role of laboratory tests in the management of the most common human diseases
- Knowledge on the interpretation of laboratory test in Laboratory medicine
- Personal critical opinion on the development of novel biomarkers and related diagnostic products.
Lesson period: Second semester
Assessment methods: Esame
Assessment result: voto verbalizzato in trentesimi
Single course
This course can be attended as a single course.
Course syllabus and organization
Single session
Responsible
Lesson period
Second semester
Course syllabus
· Clinical, diagnostic and research aspects related to the following pathologies:
- Trace elements disorders, with particular attention to Copper, Zinc, Selenium and Vit D
- Cystic fibrosis
- Inherited metabolic disorders with a special focus on neurodegenerative metabolic diseases (leukodystrophies)
- Amyloids and amyloidosis, with a special focus on circulating biomarkers
- Disorders of iron metabolism
- Red cell enzymatic disorders
- Red cell membrane disorders
- Thalassemic syndromes and structural hemoglobinopathies
- Diabetes mellitus, with particular attention to incretins and biochemical bases of diabetic complications
- Phlogosis and Sepsis
· Sample handling for nucleic acid extraction, purification and amplification, and examples of analyses of clinical molecular biology (susceptibility diagnosis, the thrombophilia case, and disease diagnosis)
· Analyses of free nucleic acids in plasma and related applications (from prenatal diagnosis to liquid biopsy)
· Proteomics and metabolomics: the search for novel biomarkers.
· The precision medicine
· Artificial intelligence and clinical laboratory
- Trace elements disorders, with particular attention to Copper, Zinc, Selenium and Vit D
- Cystic fibrosis
- Inherited metabolic disorders with a special focus on neurodegenerative metabolic diseases (leukodystrophies)
- Amyloids and amyloidosis, with a special focus on circulating biomarkers
- Disorders of iron metabolism
- Red cell enzymatic disorders
- Red cell membrane disorders
- Thalassemic syndromes and structural hemoglobinopathies
- Diabetes mellitus, with particular attention to incretins and biochemical bases of diabetic complications
- Phlogosis and Sepsis
· Sample handling for nucleic acid extraction, purification and amplification, and examples of analyses of clinical molecular biology (susceptibility diagnosis, the thrombophilia case, and disease diagnosis)
· Analyses of free nucleic acids in plasma and related applications (from prenatal diagnosis to liquid biopsy)
· Proteomics and metabolomics: the search for novel biomarkers.
· The precision medicine
· Artificial intelligence and clinical laboratory
Prerequisites for admission
A good background in biochemistry, human anatomy, and general pathology is required.
Teaching methods
Interactive lectures supported by specialized readings. Activities on virtual labs. Seminars are scheduled to be held by experts in the field. The student will be actively involved in the discussion to improve his critical skills, by re-working on acquired concepts and by communicating in an appropriate manner.
Teaching Resources
1. M. Ciaccio, G. Lippi. Biochimica Clinica e medicina di Laboratorio. III edizione, EdiSeS 2020
2. N. Rifai, A.R. Horwath, C.T. Wittwer. Tietz textbook of Clinical Chemistry and Molecular Diagnostics. Sixth edition, Elsevier Saunders, St. Louis 2018.
Additional reading material from scientific literature will be provided on the course site on MyAriel, together with education videos and other learning material.
2. N. Rifai, A.R. Horwath, C.T. Wittwer. Tietz textbook of Clinical Chemistry and Molecular Diagnostics. Sixth edition, Elsevier Saunders, St. Louis 2018.
Additional reading material from scientific literature will be provided on the course site on MyAriel, together with education videos and other learning material.
Assessment methods and Criteria
The examination procedure is in a written form with three open questions of equal weight. The duration of the exam is 90 min.
BIO/12 - CLINICAL BIOCHEMISTRY AND MOLECULAR BIOLOGY - University credits: 6
Lessons: 48 hours
Professors:
Rufini Alessandro, Tringali Cristina Alessandra
Professor(s)
Reception:
By appointment by mail/phone
via F.lli Cervi 93-LITA Segrate