Department für
Kinder- und Jugendheilkunde

Contact – principal investigator:

Assoz.Prof. Priv.Doz.Dr. med. Andreas Janecke

Link to email:   andreas.janecke@i-med.ac.at

Tel: 0043/512-504-23600, -82415

Fax: 0043/512-504-6726344  

 

 

Research interests

• We collaborate in the settings of clinical care, diagnostics and therapy of children with rare diseases
• We offer comprehensive molecular testing and bioinformatics to diagnose very rare and novel genetic diseases
• We collaborate with clinicians, human geneticists, and fundamental researchers, i.e., cell biologists and biochemists, to delineate the clinical pictures, molecular bases and pathogeneses of rare genetic diseases.

• We have access to Next-generation sequencing, culturing of primary cell lines and intestinal and liver organoids, confocal and live cell fluorescence imaging in our lab and via collaborations,

• To the present, our research group identified in leading role and in collaboration with national and international partners 16 “novel” disease genes as causing monogenic, rare disorders with onset in the neonatal period and in childhood. Our group contributed to the identification and characterization of an additional ten disease genes for rare disorders.

   

Disease-causing mutations were identified in:

Congenital diarrheas

• MYO5B and STX3 mutations lead to polarization defects of epithelial cells

• SPINT2 (serine protease inhibitor, Kunitz type 2), GUCY2C (Guanylate-Zyklase C), and SLC9A3 (NHE3, Sodium-proton exchanger 3) mutations cause congenital diarrhea with non-proportionally high sodium loss with and without congenital malformations.

Metabolic diseases

• IARS encodingisoleucyl-tRNA synthetase; loss-of-function causes a form of recurrent liver failure

• SGPL1 encodes the enzyme sphingosin-1-phosphate lyase 1. Loss-of-function causes multi-organ failure

• Defects in three genes that encode three enzymes necessary for the synthesis of serine were shown to cause the developmental metabolic disease Neu-Laxova-Syndrom

• Defects in three genes (CHST14 (carbohydrate sulfotransferase 14), DSE (dermatan sulfate epimerase), CSGALNACT1 (Chondroitin sulfate N-Acetylgalaktosamin Transferase 1), encoding enzymes necessary fort he synthesis of long, unbranched and variably sulfated sugar-chains lead to skeletal and connective tissue disorders.

Retinal dystrophies

• Diseases causing visual impairment and blindness, in isolation or in syndromic form with involvement of additional organs

• RDH12 gene mutations disrupt the visual cycle of retinol recycling

• TMEM237 mutations cause a form of Joubert syndrome

Peripheral neuropathies

• PMP2 encodes a small, abundant protein which participates in forming the myelin of the peripheral nerve

• HARS encodes histidyl-tRNA synthetase

• HINT1 encodes histidine triad nucleotide-binding protein 1