The Gan-Or lab for neurogenetics is focused on identifying genetic causes and modifiers of neurological disorders. Using advanced genetic methods such as whole-genome and whole-exome sequencing, targeted next generation sequencing, genome-wide association studies, RNA sequencing and more, we study the genetic and molecular basis of diseases such as Parkinson's disease, REM sleep behavior disorder, restless legs syndrome, dementia with Lewy-bodies, multiple system atrophy, hereditary spastic paraplegia and others. Another major focus of the lab is using genetics and machine learning approaches to better predict disease progression, and to design and analyze clinical trials.
GBA mutations are important in REM sleep behavior disorder (accepted for publication in Neurology 2020, preprint available here).
Using GWAS data, in collaboration with the NIH and the International Parkinson's Disease Genomics Consortium (IPDGC), we have identified genetic modifiers of GBA-associated Parkinson's disease (published in Brain 2020, read the paper here).
TMEM175 is an important gene in the different synucleinopathies, and is a potential modifier of GBA activity in humans (published in Annals of Neurology 2020, read the paper here).
We collaborated in the world's largest GWAS on Parkinson's disease, which identified numerous novel genomic loci associated with the disease (published in Lancet Neurology 2019, read the paper here).
We participated in the discovery of a novel gene causing hereditary spastic paraplegia, UBAP1 (published in The American Journal of Human Genetics 2019, read the paper here).
A large study of the IPDGC to understand the role of loss-of-function LRRK2 variants in Parkinson's disease (published in JAMA Neurology 2018, read the paper here).
We took part in the world's largest GWAS on restless legs syndrome, identifying 13 new genomic loci associated with risk for the disease (published in Lancet Neurology 2017, read the paper here).
Homozygous or compound heterozygous mutations in CAPN1 cause autosomal recessive hereditary spastic paraplegia (published in The American Journal of Human Genetics 2016, read the paper here).
Other recent findings
A new, French-Canadian founder GBA mutation which causes synucleinopathies and Gaucher disease. Read more.
MAPT variants and haplotypes are associated with Parkinson's disease but not with REM sleep behavior disorder. Read more.
LRRK2 haplotype is protective in REM sleep behavior disorder. Read more.
Variants in TOX3 are associated with both Parkinson's disease and restless legs syndrome, but with opposite effects on risk. Read more.
Mutations in SPTAN1 may be a novel cause for hereditary spastic paraplegia. Read more.
SMPD1 mutations are associated with Parkinson's disease. Read more.