Rando L. Allikmets

About

Rando L. Allikmets, PhD, is the William and Donna Acquavella Professor of Ophthalmic Sciences at Columbia University Irving Medical Center, with appointments in Ophthalmology and Pathology and Cell Biology. His research focuses on using the human genome sequence to assess genetic variation in the population, aiming to answer questions about genetic predispositions to inherited and complex disorders, particularly eye diseases. His laboratory specializes in discovering genetic defects underlying these disorders, cloning and characterizing relevant genes, and determining mutation spectra associated with specific phenotypes. A significant part of his work involves systematic screening of candidate genes, especially those in the ATP-binding cassette (ABC) transporter superfamily, which are vital membrane proteins involved in cellular transport functions. His contributions have advanced understanding of the molecular genetic basis of retinal diseases such as Stargardt macular dystrophy, cone-rod dystrophy, retinitis pigmentosa, and age-related macular degeneration.

Research topics

• Biology
• Genetics
• Computational biology
• Medicine
• Biochemistry
• Pathology
• Internal medicine

Selected publications

• Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

  Progress in Retinal and Eye Research · 2020 · 302 citations

  Senior authorCorresponding

  The ABCA4 protein (then called a "rim protein") was first identified in 1978 in the rims and incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and variants were identified as the cause of autosomal recessive Stargardt disease (STGD1). Over the next two decades, variation in ABCA4 has been attributed to phenotypes other than the classically defined STGD1 or fundus flavimaculatus, ranging from early onset and fast progressing cone-rod dystrophy and retinitis pigme…

  DOI

• Targeted long-read sequencing identifies missing disease-causing variation

  The American Journal of Human Genetics · 2021 · 238 citations

  PublisherOA PDFDOI

• The human ATP‐binding cassette (ABC) transporter superfamily

  Human Mutation · 2022-06-01 · 164 citations

  reviewOpen accessSenior author

  The ATP-binding cassette (ABC) transporter superfamily comprises membrane proteins that efflux various substrates across extra- and intracellular membranes. Mutations in ABC genes cause 21 human disorders or phenotypes with Mendelian inheritance, including cystic fibrosis, adrenoleukodystrophy, retinal degeneration, cholesterol, and bile transport defects. To provide tools to study the function of human ABC transporters we compiled data from multiple genomics databases. We analyzed ABC gene cons…

  PublisherOA PDFDOI

• Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

  Scientific Reports · 2021 · 158 citations

  Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish auton…

  DOI

• A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration

  Scientific Reports · 2020 · 63 citations

  Genome-wide association studies (GWAS) for late stage age-related macular degeneration (AMD) have identified 52 independent genetic variants with genome-wide significance at 34 genomic loci. Typically, such an approach rarely results in the identification of functional variants implicating a defined gene in the disease process. We now performed a transcriptome-wide association study (TWAS) allowing the prediction of effects of AMD-associated genetic variants on gene expression. The TWAS was base…

  PublisherOA PDFDOI

Recent grants

• Core Facilities for Vision Research

  NIH · $12.4M · 2010–2026

• NIH Grant R24EY019861

  NIH · $5.7M · 2017

• Integrated clinical, genetic and functional analysis of the ABCA4 locus

  NIH · $2.2M · 2019–2025

Frequent coauthors

• Michael Dean

  Division of Cancer Epidemiology and Genetics

  210 shared

• Eugene R. Zabarovsky

  162 shared

• В. И. Кашуба

  National Academy of Sciences of Ukraine

  160 shared

• Lev L. Kisselev

  156 shared

• George Klein

  153 shared

• V Bannikov

  146 shared

• Gösta Winberg

  Ludwig Cancer Research

  133 shared

• Rinat Gizatullin

  Karolinska Institutet

  133 shared

Awards & honors

• 2012 Dario Lorenzetti Lecture, McGill University, Montreal,…
• 2010 Foundation Fighting Blindness Visionary Award
• 2008 Mette Warburg Lecture, the Kennedy Center, University o…
• 2007 Alcon Research Institute Award
• 2006 Awarded the title of “Godfather”, Association DMLA (AMD…

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