[Medical genetics service]

Area of Science:

• Medical Genetics
• Molecular Endocrinology
• Human Genetics

Context:

• Established in 1987, the department evolved from the Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM).
• Merged with the Center of Human Genetics of the ULB in 1992, it now comprises molecular genetics and oncology, cytogenetics, and clinical genetics units.
• The department performs 1,000 genetic counseling consultations and over 15,000 diagnostic procedures annually.

Purpose:

• To detail the historical development and structural organization of the Department of Medical Genetics.
• To highlight significant research achievements and clinical contributions.
• To showcase the department's role in advancing medical genetics and understanding human diseases.

Summary:

• Pioneered the identification of the first mutations causing congenital hypothyroidism.
• Achieved molecular cloning of the TSH receptor and various orphan G protein-coupled receptors.
• Identified nociceptin via reverse pharmacology and olfactory receptors in mammalian sperm.
• Elucidated molecular mechanisms of hyperthyroidism and identified CCR5 as a key HIV-1 coreceptor, discovering a prevalent CCR5 mutation conferring HIV resistance.

Impact:

• Advanced the understanding of genetic disorders, including congenital hypothyroidism and hyperthyroidism.
• Contributed to the molecular basis of infectious diseases by identifying HIV-1 coreceptors.
• Established significant breakthroughs in receptor research and reverse pharmacology.
• Enhanced diagnostic capabilities through extensive molecular and cytogenetic procedures.