📜 History

I am a Molecular Biologist, experienced in human genome data analysis.

In 2018 I founded Palindrome in Iran. It was a fast-paced startup at the begining, in which I developed two state of the art algorithms for exome data analysis. Until now Palindrome has resolved tens of challenging undiagnosed cases and helped hundreds of families suffring from rare disorders. Here are the two:

• PalinDepth: a CNV detection tool from short read exome data
• PalinVar: a point-based scoring system for ACMG-driven classification of short varinats

🏆 Achievements

By collaborating with other researchers in the field of medical genetics, two of my data analysis tools have facilitated discoveries in the rare genetic disorders area:

• RNUscanner: a tool for fast screening of RNU genes for any possible short variants from off-target reads. After discovery of RNU4-2 gene in neurodevelopmental disorders, there is a growing number of these non-coding RNA genes being reported in human congenital disorders. However, such genes are not covered in exome sequencings, but there is a chance of off-target reads existing from these short RNU genes. RNUscanner is released on GitHub.
• ExHap: if a rare pathogenic variant is common between two or more unrelated patients, it trigers the idea that these patients might be related going back to hundred years ago; i.e. they may have a common ancestor. If it is true, we call this a founder variant, otherwise it is a recurrent variant. ExHap, available on my GitHub, finds if a variant is founder.

Recently I screened hundreds of exomes for STR expansions in neuromuscular patients with different ethnicities. Creating a reference panel of STR loci is my ongoing project. I am also doing GWAS on dementia and neurodegenerative diseases.

📝 Publications

Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients
Parkinsonism & Related Disorders; 2024 article

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease
Clinical Genetics; 2022 article

A novel carcinogenic PI3Kα mutation suggesting the role of helical domain in transmitting nSH2 regulatory signals to kinase domain
Life Sciences; 2021 article