Shelly Goomber

• Working on Laboratory Generation, functional assay and characterization of GAA clinical variants of unknown significance (VUS) screened of Pompe patients at Division of Pediatrics-Medical Genetics.
• Functional analysis determines whether novel clinical variants are damaging or normal and helped at the confirmation of diagnosis of newborns suspected to have Pompe disease, a rare inherited metabolic disorder.
• Published research results in peer-reviewed journal Goomber S1, Huggins E1, Rehder C2, L. Cohen LJ1, Bali SD1, Kishnani SP (2022) Development of a clinically validated in-vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening. Frontiers in Genetics-Genetics of common and rare diseases (Accepted)
• Rated one of the top abstracts presented at American College of Medical Genetics (ACMG) Annual Meeting-2022 at Nashville, TN, USA.

Goomber S1, Huggins E1, Rehder C2, L. Cohen LJ1, Bali SD1, Kishnani SP(2022) Establishment of a Clinically Validated In Vitro Functional Assay to Score Pathogenicity of Novel GAA Variants in Pompe Patients. Genetics in Medicine https://doi.org/10.1016/j.gim.2022.01.052

Presented at 17th Annual World Symposium-2021

Goomber S, Yi H, Austin S, Rehder C, Crawford G, Bali SD, Kishnani P (2021) Functional analysis and clinical curation of human acid alpha glucosidase (GAA) variants of unknown significance (VUS) screened from infants diagnosed with Pompe disease via newborn screening (NBS). Molecular Genetics and Metabolism 132(2):S45 10.1016/j.ymgme.2020.12.093

• Sanctioned a research project 'Molecular studies to detect markers of antimalarial drug resistance at selected study sites in the country’ funded by Indian Council of Medical Research (ICMR).
• Published research outcomes in reputed, peer reviewed journals as first author

Goomber S, Mishra N, Anvikar A, Valecha N (2020)

Geographic Plasmodium falciparum sarcoplasmic reticulum Ca2+ ATPase (PfSERCA) genotype diversity in India. Acta Tropica https://doi.org/10.1016/j.actatropica.2019.105095

Goomber S, Mishra N, Yadav C P, Anvikar A, Valecha N (2018)

Spatio-temporal distribution of PfMDR1 polymorphism

among uncomplicated Plasmodium falciparum

malaria cases along international border of north east India. Infection, Genetics and Evolution

https://doi.org/10.1016/j.meegid.2018.05.025

Conducted research on the topic entitled 'Functional analysis of Bacillus lipase by directed evolution and rational approach'.

Generated high-quality, professional papers for submission to scientific publications.

• Kumar R, Goomber S, Kaur J (2019) Engineering lipases for temperature adaptation: Structure function correlation Biochimica et Biophysica Acta (BBA) - Proteins & Proteomics 10.1016/j.bbapap.2019.08.001
• Goomber S, Chopra N, Bedi G, Kaur J (2017) Comparative analysis of point mutations on protein -COOH terminal near surface and its hydrophobic core provide insights on thermostability of Bacillus Lipase LipJ. J. Molecular Catalysis B: Enzymatic http://dx.doi.org/10.1016/j.molcatb.2017.04.00
• Goomber S, Kumar R, Singh R, Mishra N, Kaur J (2016) Point mutation Gln121-Arg increased temperature optima of Bacillus lipase (1.4 subfamily) by fifteen degrees. Int. J. Biol. Macromol. 88, 507-514. https://www.ncbi.nlm.nih.gov/pubmed/27083848
• Goomber S, Kumar A, Kaur J (2016) Disruption of N terminus long range non covalent interactions shifted temp.opt 25°C to cold: Evolution of point mutant Bacillus lipase by error prone PCR.Gene 576, 237-243.https://www.ncbi.nlm.nih.gov/pubmed/26456196
• Goomber S, Kumar A, Singh R, Kaur J (2015) Point Mutation Ile137-Met Near Surface Conferred Psychrophilic Behaviour and Improved Catalytic Efficiency to Bacillus Lipase of 1.4 Subfamily. Appl. Biochem. Biotechnol. 178, 753-765. https://www.ncbi.nlm.nih.gov/pubmed/26456196

Presented work at 32nd Annual symposium by The Protein Society at Boston, United States from 9 July-12 July 2018;

• Delivered lecture in Biotechnology and arranged activities to generate research aptitude among students.

• Conducted research in development of phytochemical and microbial biopesticides
• Research resulted in peer reviewed publications

Koul O, Multani JS, Goomber S, Daniewski WM, Berlozecki S (2004) Activity of some nonazadirachtinlimonoids from Azadirachta indica against lepidopteran larvae. Australian J Entomology 43(2): 189-195

Koul O, Kaur H, Goomber S, Wahab S (2004) Bioefficacy and mode of action of rocaglamide from Aglaiaelaeagnoidea (syn. A. roxburghiana) against gram pod borer, Helicoverpaarmigera (Hübner). J. Appl. Entomolgy 128(3):177-181

• Carried research on satellite markers in project entitled ‘Pyramiding of genes for leaf rust resistance in wheat’