Laboratory of Biomarkers and Genomics

of Neurodegeneration

Our Vision

To decipher the complex genomic basis of Parkinson's disease and other neurodegenerative diseases such as Amyotrophic Lateral Sclerosis (ALS), dementia ataxia and Creutzfeldt-Jakob disease (CJD). To better understand the molecular and cellular mechanisms of neurodegeneration, identify biomarkers, and to assist in delaying or even in preventing these diseases.

Our Team

  • Prof. Roy , Alcalay MD MS, Lab PI, Chief, Movement Disorders Division; Neurological Institute Director, Laboratory of Biomarkers and Genomics of Neurodegeneration
  • Mali Gana Weisz, PhD,Lab manager

  • Orly Goldstein, PhD
  • Tal Glinka, MSc
  • Yael Shimshon, MSc
  • Liat Freidlin, BSc.
  • Shachar Shani, PhD student

  • Prof. Avi Orr-Urtreger
  • Anat Bar-Shira, PhD
  • Ziv Gan-Or, MD-PhD

Research

of people affected by neurological disorders

Establish a large biospecimen repository of people affected by neurological disorders (Parkinson’s disease, CJD, dementia with Lewy bodies and early onset dementia) and their relatives who are at-risk to study the genetics and cellular mechanisms of the disease.

of people with and without Parkinson’s and with and without GBA1 mutations

in affected individuals and their relatives, in different ethnic groups

that lead to Parkinson’s disease on different genetic backgrounds by using comparative cellular models in Parkinson’s patients and controls

involved in the immune system, the nervous system, and inflammation in Parkinson’s disease

From The Press

Highlighted Publications

High frequency of C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis patients from two founder populations sharing the same risk haplotype.

Goldstein O, Gana-Weisz M, Nefussy B, Vainer B, Nayshool O, Bar-Shira A, Traynor BJ, Drory VE, Orr-Urtreger A. Neurobiol Aging. 2018 Apr; 64:160.e1-160.e7.

Distinguishing Dementia With  Lewy Bodies From Alzheimer’s Disease: What is the Influence of the GBA Genotype in Ashkenazi Jews?

Bregman N, Kavé G, Mirelman A, Thaler A, Gana Weisz M, Bar-Shira A, Orr-Urtreger A, Giladi N, Shiner T. Alzheimer Dis Assoc Disord. 2019 Jul-Sep;33(3):279-281.

Rare homozygosity in amyotrophic lateral sclerosis suggests the contribution of recessive variants to disease genetics.

Goldstein O, Kedmi M, Gana-Weisz M, Twito S, Nefussy B, Vainer B, Fainmesser Y, Abraham A, Nayshool O, Orr-Urtreger A, Drory VE. J Neurol Sci. 2019 Jul 15;402:62-68. (Last two authors equal contribution).

Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson’s disease risk?

Goldstein O, Gana-Weisz M, Cohen-Avinoam D, Shiner T, Thaler A, Cedarbaum JM, John S, Lalioti M, Gurevich T, Bar-Shira A, Mirelman A, Giladi N, Orr-Urtreger A. Mol Genet Metab. 2019 Dec;128(4):470-475.

A novel mutation in TARDBP segregates with amyotrophic lateral sclerosis in a large family with early onset and fast progression. Goldstein O, Kedmi M, Gana-Weisz M, Nefussy B, Vainer B, Fainmesser Y, Drory VE, Orr-Urtreger A. Amyotroph Lateral Scler Frontotemporal Degener. 2020 May;21(3-4):280-285.

A Possible Modifying Effect of the G2019S Mutation in the LRRK2 Gene on GBA Parkinson’s Disease.

Omer N, Giladi N, Gurevich T, Bar-Shira A, Gana-Weisz M, Goldstein O, Kestenbaum M, Cedarbaum JM, Orr-Urtreger A, Mirelman A, Thaler A. Mov Disord. 2020; 35(7):1249-1253.

Longitudinal Measurements of Glucocerebrosidase activity in Parkinson’s patients.

Alcalay RN, Wolf P, Chiang MSR, Helesicova K, Zhang XK, Merchant K, Hutten SJ, Scherzer C, Caspell-Garcia C, Blauwendraat C, Foroud T, Nudelman K, Gan-Or Z, Simuni T, Chahine LM, Levy O, Zheng D, Li G, Sardi SP; Parkinson’s Progression Markers Initiative (Collaborator Orr-Urtreger A). Ann Clin Transl Neurol. 2020 Oct;7(10):1816-1830.

Biochemical markers for severity and risk in GBA and LRRK2 Parkinson’s disease.

Thaler A, Omer N, Giladi N, Gurevich T, Bar-Shira A, Gana-Weisz M, Goldstein O, Kestenbaum M, Cedarbaum JM, Orr-Urtreger A, Shenhar-Tsarfaty S, Mirelman A. J Neurol. 2021 Apr;268(4):1517-1525.

PARK16 locus: differential effects of the non-coding rs823114 on Parkinson’s disease risk, RNA expression and DNA methylation.

Goldstein O, Gana-Weisz M, Casey F, Meltzer Fridrich H, Yaacov O, Waldman YY, Lin D, Mordechai Y, Zhu J, Cullen PF, Omer N, Shiner T, Thaler A, Bar-Shira A, Mirelman A, John S, Giladi N, Orr-Urtreger A. J Genet Genomics. 2021 Jan 20;48(4):341-345.

The GBA-370Rec Parkinson’s disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44.

Goldstein O, Gana-Weisz M, Attar R, Bar-Shira A, Lederkremer M, Shiner T, Thaler A, Mirelman A, Giladi N, Orr-Urtreger A. Molecular Genetics and Metabolism 2021 May;133(1):109-112.

The Effect of GBA Mutations and APOE Polymorphisms on Dementia with Lewy Bodies in Ashkenazi Jews.

Shiner T, Mirelman A, Rosenblum Y, Kavé G, Weisz MG, Bar-Shira A, Goldstein O, Thaler A, Gurevich T, Orr-Urtreger A, Giladi N, Bregman N. J Alzheimers Dis. 2021;80(3):1221-1229.

R869C mutation in molecular motor KIF17 gene is involved in Dementia with Lewy Bodies.

Goldstein O, Gana-Weisz M, Shiner T, Attar R, Mordechai Y, Waldman YY, Bar-Shira A, Thaler A, Gurevich T, Mirelman A, Giladi N, Orr-Urtreger A. Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring 2021 Jun 4;13(1):e12143.

C9orf72-G4C2 Intermediate Repeats and Parkinson’s Disease; A Data-Driven Hypothesis.

Kobo H, Goldstein O, Gana-Weisz M, Bar-Shira A, Gurevich T, Thaler A, Mirelman A, Giladi N, Orr-Urtreger A.Genes (Basel). 2021 Aug 5;12(8):1210.

Novel variants in genes related to vesicle-mediated-transport modify Parkinson’s disease risk. 

Goldstein O, Gana-Weisz M, Banfi S, Nigro V, Bar-Shira A, Thaler A, Gurevich T, Mirelman A, Giladi N, Alcalay RN,   Orr-Urtreger A.Mol Genet Metab. 2023 May 12;139(2):107608. doi: 10.1016/j.ymgme.2023.107608

Variants in PSMB9 and FGR differentially affect Parkinson’s disease risk in GBA and LRRK2 mutation carriers.

Shani S, Goldstein O, Gana-Weisz M, Bar-Shira A, Thaler A, Gurevich T, Mirelman A, Giladi N, Alcalay RN, Orr-Urtreger A. Parkinsonism Relat Disord. 2023 Apr 20;111:105398. doi: 10.1016/j.parkreldis.2023.105398.