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The genetic legacy of the contemporary Belgian population using the phylogographic approach. KU Leuven

Ronny Decorte
Forensic Biomedical Sciences, Department of Imaging & Pathology, Ecology, Evolution and Biodiversity Conservation
Understanding the genetic structure of human populations is of fundamental interest to medical, forensic, historical and anthropological sciences. One of the most informative genetic markers for a human genetic study is the sex-determining Y-chromosome, which is very useful to detect population differentiation and complex historical migrations in regional areas. Moreover, the Y-chromosome creates a unique opportunity to link an informative ...

Molecular genomics of TDP-43 positive frontotemporal lobar degeneration (FTLD-TDP): elucidation of disease pathways through an integrated approach. University of Antwerp

Christine Van Broeckhoven
VIB CMN - Neurodegenerative Brain Diseases Group
Frontotemporal lobar degeneration (FTLD) is a severe neurodegenerative brain disease with a prevalence similar to that of Alzheimer's disease (AD) in patients with an early onset of disease. However, an appropriate therapy is not yet available. Clinical FTLD characteristics are often accompanied by amyotrophic lateral sclerosis (ALS) symptoms. Pathologically, most patients show TDP-43-positive brain inclusions (FTLD-TDP). Genetic factors play an ...

(In)stability of X chromosome inactivation in human pluripotent stem cells Vrije Universiteit Brussel

Mieke Geens
Department of Embryology and Genetics
Because of their unusual capacity of self-renewal and pluripotency, human pluripotent stem cells (hPSCs), exemplified by human embryonic stem cells (hESC) and human induced pluripotent stem cells (hiPSC), are often considered as an in-vitro model for human development and disease modelling, as well as a promising cell source for regenerative medicine. Several studies, however, have demonstrated that long term in-vitro culture of hPSCs can ...

Role of the X chromosome in melanoma biology and prognosis. KU Leuven

Joost van den Oord
Translational Cell & Tissue Research
Gonosome-linked expression of PPP2R3B in cutaneous melanoma correlates with distant metastasis free survival Background: A strong adverse male effect for melanoma incidence and survival has been reported. No biological explanation, including hormonal differences, has been identified so far. We hypothesize that this gender difference in incidence and survival involves X-linked tumor suppressor genes and/or oncogenes whose expression is affected ...

Endometrial and embryonic genomics, searching for biomarkers in assisted reproduction KU Leuven

Thomas D'Hooghe
Woman and Child

Infertility is a serious medical concern preventing the parenthood in 10% of couples. Infertility treatment using assisted reproduction techniques (ART) is popular in Europe with up to 5% of children born thanks to medical help. Despite many technological improvements the overall pregnancy rate after infertility treatment using the most commonly practiced in vitro fertilization (IVF) remains only 30% per single cycle. The specific features of ...

The interaction between stuttering and gestures, and its influence on the intelligibility of individuals with Down syndrome KU Leuven

Inge Zink
Research Group Experimental Oto-rhino-laryngology, Parenting and Special Education

Stuttering, a multicomponent fluency disorder wherein speech is disrupted by involuntary part-word repetitions, prolongations and blocks, frequently occurs in individuals with Down syndrome. Down syndrome (DS), the result of an extra copy of chromosome 21, is characterized by specific weaknesses and strengths in the functioning of individuals with this diagnosis. Weaknesses in their language and speech abilities often result in ...

A multi-omics approach to the detection of pathologic genetic and epigenetic lesions in Developmental and Epileptic Encephalopathies University of Antwerp

Sarah Weckhuysen
VIB CMN - Applied and Translational Neurogenomics
The Developmental and Epileptic Encephalopathies (DEE) are a group of rare and heterogeneous syndromes characterized by early-onset epilepsy with severe developmental delay, affecting approximately 1 in 2000 infants. In most patients, the cause is a high-impact genetic variant that often arises de novo, although recessive and X-linked inheritance also occurs. However, standard diagnostic practice involving whole-exome sequencing (WES) and ...

Deep phenotyping of language, cognition and behaviour in school-aged children with recurrent copy number variants KU Leuven

Ann Swillen
Laboratory for Behaviour and Neurodevelopment, Research Group Experimental Oto-rhino-laryngology, Department of Human Genetics

Recurrent pathogenic copy number variants (CNVs) are structural genetic variations involving deletions or duplications at specific chromosomal loci, such as 22q11.2 deletion/duplication (22q11.2DS – 22q11.2Dup) and 16p11.2 deletion/duplication (16p11.2DS – 16p11.2Dup). These CNVs are among the most common structural variants that confer significant risk for neurodevelopmental disorders (NDDs) across the lifespan (NDD-CNVs). In ...

Towards a better understanding of the molecular mechanisms underlying thoracic aortic aneurysms and dissections. University of Antwerp

Bart Loeys
Medical Genetics (MEDGEN)
Expansion of a weakened region of the thoracic aorta (aneurysm; TAA) entails a high risk for aortic dissection/rupture. The latter events associate with severe internal bleedings, often resulting in sudden death. Over time, defects in more than 20 genes have been found to influence TAA predisposition. Yet, the disease's genetic and mechanistic picture is still far from complete, hampering development of amended diagnostic tools and therapies. We ...

Research into biomarkers for early detection of Autosomal Dominant Polycystic Kidney Disease KU Leuven

Ann Van Schepdael
Pharmaceutical Analysis, PKD Research Group

The kidneys, two bean shaped organs located on either side of the spine in the back of the abdomen, are important excretory organs of the human body. Apart from the removal of waste, kidneys have other important functions such as maintaining the blood pressure and the activation of vitamin D. Since these tasks are essential for a healthy life, we can say that a good renal function is vital. Nevertheless, today exist a variety of kidney ...