Ichthyosis and genodermatoses
Severe autosomal recessive congenital ichthyosis carries a heavy psychosocial burden for patients and families, and secukinumab reduced its inflammation but improved scaling only mildly. His group contributed to IndiGenomes, a resource of genetic variants from over 1,000 Indian genomes, and uses whole exome sequencing to diagnose rare genodermatoses. An ICMR grant funded a topical transglutaminase-1 nanocomplex for enzyme replacement, and a DBT grant starting in December 2026 will test non-viral delivery in a TGM1-deficient 3D human skin model.
16 papers2 grants
Papers
Newest first. Every paper is also on the publications page.
- When biologics fail: Tofacitinib-induced remission in a child with severe, genetically ambiguous psoriasisIndian Journal of Dermatology, Venereology and Leprology2026Senior authorDOI
- Disrupted cholesterol biosynthesis and hair follicle stem cell impairment in the onset of alopeciaPLoS ONE2025DOI
- A Rapid and Scalable Multiplex PCR-Based Next-Generation Amplicon Sequencing Method for Familial Hypercholesterolemia Genetic ScreeningThe Journal of Applied Laboratory Medicine2024DOI
- Homozygous familial hypercholesterolemia with xanthomas and a recurrent mutationIndian Journal of Dermatology, Venereology and Leprology2024DOI
- Dermoscopic Correlation of an Eccentric Case of Kindler SyndromeCureus2024Senior authorDOI
- Psychosocial impact of severe autosomal recessive congenital ichthyosisBritish Journal of Dermatology2023Senior authorDOI
- Secukinumab significantly reduces inflammation but only mildly improves scaling in four cases of autosomal recessive congenital ichthyosisClinical and Experimental Dermatology2022Senior authorDOI
- Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomesJournal of Genetic Engineering and Biotechnology2021DOI
- Plexiform NeurofibromatosisScopus record2021Senior authorScopus
- Pharmacogenomic Landscape of Covid-19 Therapies From Indian Population GenomesPharmacogenomics2021DOI
- The long noncoding RNA MALAT1 suppresses miR‐211 to confer protection from ultraviolet‐mediated DNA damage in vitiligo epidermis by upregulating sirtuin 1British Journal of Dermatology2020DOI
- IndiGenomes: a comprehensive resource of genetic variants from over 1000 Indian genomesNucleic Acids Research2020DOI
- Genomics of rare genetic diseases: experiences from IndiaHuman Genomics2019DOI
- Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosisF1000Research2015First authorDOI
- Whole‐exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformisJournal of the European Academy of Dermatology and Venereology2015DOI
- Ultrastructural Investigations in an Autosomal Recessively Inherited Case of Dyschromatosis Universalis HereditariaActa Dermato-Venereologica2014First authorDOI
Research grants
- ICMR · ₹67.8 lakhTopical transglutaminase-1 nanocomplex for enzyme replacement in autosomal recessive congenital ichthyosisPrincipal investigator, with CSIR-IGIB · 2019 to 2021, completed
- DBT · ₹70.82 lakhNon-viral TGM1 delivery validated in a TGM1-deficient 3D human skin modelPrincipal investigator, with CSIR-IGIB · Starts December 2026
Other research programmes
Canonical page: https://aayushgupta.co/research/ichthyosis-and-genodermatoses