Professor& President Congolese Society for Human Genetics (CoSHG)


Professor& President Congolese Society for Human Genetics (CoSHG)


Professor – President Congolese Society for Human Genetics (CoSHG)

Education/Qualifications and Employment
– 1974: MD & 1979: Pediatrician, UNAZA (Université Nationale du Zaïre), Kinshasa, DRC
– 1991: PhD (Medical Genetics), KUL (Katholieke Universiteit Leuven), Leuven, Belgium
Since 1981: Associate Professor in Paediatrics, University of Kinshasa (UNIKIN), Zaïre.
Since 2011: Resident Professor, Human Genetics and Pediatrics, UNIKIN.
Since 2013: Head Medical Genetics, Institut National de Recherche Biomédicale, Kinshasa
Since 2015: Director Laboratory and Center for Human Genetics, University of Kinshasa.
Current Position: Professor; President Congolese Society for Human Genetics (CoSHG).
Contribution to Science: 137 articles or abstracts, including 93 published in internationally reviewed journals in the fields of pediatrics and human genetics.

Title of the talk: The value of rare diseases research in DR Congo

A disease is defined as rare disease when it affects a limited portion of the population. The frequency of these diseases is very variable from one continent to another. In the USA, a disorder is considered as rare disease when it affects fewer than 200.000 inhabitants. In the European Union, the limit is set to less than 1 in 2000 individuals. The limits in Africa are not yet specifically determined.

Most rare diseases are genetic: they may cause symptoms throughout the entire life with, in some cultural communities, erroneous and mystical believes. Therefore, investing in rare disease in Africa is important not only for the individuals’ quality of life, but also for their whole supporting family and for the scientific community (researchers and clinicians).

We would like to stress a few specific aspects from our studies that should be considered in rare disease research in Africa.

1. The clinical presentation for many known rare diseases is still unknown in African population. Establishing a clinical diagnosis means establishing a match between the patient’s phenotype and reference clinical images. These are often either lacking in Africa or found to present differences from Caucasian phenotype [e.g. our papers on trisomy 13: PMID: 25254124; DAX1: PMID: 21739173; Wolf-Hirshhorn: PMID: 28794913; Down syndrome and FDNA: PMID: 27925162].

2. Because of the genetic diversity in the African population and the consanguineous communities in some areas, there are possibly many yet unidentified rare diseases in Africa [e.g. two cases with lateral abdominal wall defect: in press].

3. Different mutations can cause a known rare disease. From findings in Africa, we can expand the lists of disease genes and mutations and improve our understanding of genetic mechanisms [e.g. new mutations in Apert syndrome: PMID: 24486773].

4. The possible impact of African environment on rare diseases is still poorly understood. Some of our studies suggest an environmental influence on disease frequency [e.g. cleft lip: PMID: 29802056] or characteristics (Williams: PMID: 27014455).

In DR Congo, through a series of small studies, we have come to the conclusion that research into rare diseases is worth in Africa. A broad local, national and international partnership is needed to set the path to structured and concerted research into rare diseases in Africa.