Translational Genetics

and Genomics Research Laboratory

Our Vision

We are dedicated to decipher the role of genetic diseases in our patients. Our projects focus on the identification, characterization and functional analyses of novel human disease-causing genes in order to elucidate the disease pathophysiology and potentially provide targets for personalized medicine.

Our Team

  • Prof. Hagit Baris Feldman, Lab PI, Director of The Genetics Institute and Genomics Center;Sackler Faculty of Medicine.
  • Dr. Hofit Gadot, Lab Manager

  • Alina Kurolap, R.N., Ph.D

  • Adi Mory, Ph.D
  • Sivan Reytan, MSc
  • Tal Brill, PhD

  • Yam Amir
  • Doha Khair
  • Bar Levi

  • Noa Zunz Henig, PhD

Research

of rare monogenic disorders

Our Research Laboratory aims to discover novel disease-causing genes and investigate the pathophysiological mechanisms of rare monogenic phenotypes in families referred to the Genetics Institute at Tel Aviv Sourasky Medical Center or by colleagues. We use in-house next generation sequencing and bioinformatic analyses for deciphering the genetic causes of rare diseases, and functional assays are tailored to accommodate each novel disease-causing gene, pathway and phenotype.
Specific examples for projects are listed below

in a candidate gene on inflammatory response pathways in atopic diseases, intestinal permeability and protein losing enteropathy

We identified a rare variant suspected to cause protein-losing enteropathy, food allergies and eosinophilic disease in a homozygous state, while conferring susceptibility to atopic disease in heterozygous carriers. We are studying the pathways involved and the effects of this variant on disease states.

for Yellow Nail syndrome (YNS)

YNS is an ultra-rare disorder characterized by yellow dystrophic nails, bronchoectasias and lymphedema. We identified bi-allelic variants in several YNS patients. This gene is associated with planar cell polarity pathway, and we are investigating its role in lymphatic abnormalities and other YNS manifestations.

 and diabetes-related gene in disease pathophysiology

We are studying the role of a novel poorly-characterized gene in pathways related to obesity and glucose metabolism, and how specific mutations in this gene cause obesity and diabetes in patients.

and cardiovascular disease

We are studying the effects of a complete loss of a gene in the natriuretic peptide pathway in a family with hypertension, arrhythmia and atrial fibrosis

of intronic variants

The genomic era brings to light many variants in intronic and regulatory regions, the effect of which is often difficult to predict. Part of our research efforts aims to characterize the consequences of candidate variants in such regions, and to learn more about their effects on gene expression and function

From The Press

Highlight Publications

Kurolap A, Armbruster A, Hershkovitz T, Hauf K, Mory A, Paperna T, Hannappel E, Tal G, Nijem Y, Sella E, Mahajnah M, Ilivitzki A, Hershkovitz D, Ekhilevitch N, Mandel H, Eulenburg V, Baris HN. Loss of glycine transporter 1 causes a subtype of glycine encephalopathy with arthrogryposis and mildly elevated cerebrospinal fluid glycine. Am J Hum Genet. 2016; 99(5), 1172-1180.

Kurolap A, Eshach-Adiv O, Hershkovitz T, Paperna T, Mory A, Oz-Levi D, Zohar Y, Mandel H, Chezar J, Azoulay D, Peleg S, Half EE, Yahalom V, Finkel L, Weissbrod O, Geiger D, Tabib A, Shaoul R, Magen D, Bonstein L, Mevorach D, Baris HN. Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy. N Engl J Med. 2017; 377, 87–89.

Kurolap A, Eshach-Adiv O, Gonzaga-Jauregui C, Dolnikov K, Mory A, Paperna T, Hershkovitz T, Overton JD, Kaplan M, Glaser F, Zohar Y, Shuldiner AR, Berger G, Baris HN. Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense. J Med Genet. 2018; 55, 779-784.

Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S,* Bratkovic S,* Derks TGJ,* Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar P, Saada A, Sainz B, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nat Commun. 2018; 9(1), 4065. 

Kurolap A, Eshach-Adiv O, Hershkovitz T, Tabib A, Karbian N, Paperna T, Mory A, Vachyan A, Slijper N, Steinberg R, Zohar Y, Mevorach D, Baris Feldman H. Eculizumab is safe and effective as a long-term treatment for protein-losing enteropathy due to CD55-deficiency. J Pediatr Gastroenterol Nutr. 2019; 68(3), 325-333.

Kurolap A, Eshach-Adiv O, Hershkovitz T, Tabib A, Karbian N, Paperna T, Mory A, Vachyan A, Slijper N, Steinberg R, Zohar Y, Mevorach D, Baris Feldman H. Eculizumab is safe and effective as a long-term treatment for protein-losing enteropathy due to CD55-deficiency. J Pediatr Gastroenterol Nutr. 2019; 68(3), 325-333.

Paperna T, Sharon-Shwartzman N, Kurolap A, Goldberg Y, Moustafa N, Carasso Y, Feinstein-Linial M, Mory A, Reznick-Levi G, Gonzaga-Jauregui C, Shuldiner AR, Basel-Salmon L, Ofran Y, Half EE, Baris Feldman H. Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype. J Med Genet. 2019.

Kurolap A, Eshach-Adiv O, Konnikova L, Werner L, Gonzaga-Jauregui C, Steinberg M, Mitsialis V, Mory A, Nunberg MY, Wall S, Shaoul R, Overton JD, Regeneron Genetics Center, Shuldiner AR, Zohar Y, Paperna T, Snapper SB, Shouval DS, Baris Feldman H. A unique presentation of infantile-onset colitis and eosinophilic disease without recurrent infections resulting from a novel homozygous CARMIL2 variant. J Clin Immunol. 2019: 39(4):430-439.

Hershkovitz T, Kurolap A, Gonzaga-Jauregui C, Paperna T, Mory A, Wolf SE, Regeneron Genetics Center, Overton JD, Shuldiner AR, Saada A, Mandel H, Baris Feldman H. A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4. J Hum Genet. 2019;64(6):589-95.

Hershkovitz T, Kurolap A, Tal G, Paperna T, Mory A, Staples J, Brigatti KW; Regeneron Genetics Center, Gonzaga-Jauregui C, Dumin E, Saada A, Mandel H, Baris Feldman H. A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes. Mol Genet Metab Rep. 2020;26:100699.

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