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Profile Details
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USD 273 /hr
Hire Dr. Shivani J.
Denmark
USD 273 /hr

Tech Savvy Clinical Project Manager with a Ph.D. in medicine and commercial accumen.

Profile Summary
Subject Matter Expertise
Services
Writing Clinical Trial Documentation, Technical Writing, Copywriting, Newswriting
Research Market Research, User Research, Meta-Research, Fact Checking, Gap Analysis, Gray Literature Search, Systematic Literature Review
Consulting Scientific and Technical Consulting, Regulatory Consulting
Product Development Formulation, Product Evaluation, Product Validation, Concept Development
Work Experience

Knowledge Partner

CDG ApS, Denmark

December 2019 - Present

COO

Silvi.ai Denmark

April 2019 - August 2021

Aarhus University

- March 2021

Innovation Ambassador Coordinator

Aarhus University TTO Denmark

September 2019 - February 2020

Project Leader

Aarhus University Hospital RegionM Denmark

March 2018 - February 2020

Scientific Advisor

PharmaEvidence ApS Denmark

May 2018 - March 2019

Post doc in Genetic Medicine

Aarhus University Denmark

March 2014 - February 2018

Research Scholar

PreventiNe Life Care Pvt Ltd Mumbai India

September 2007 - January 2010

Education

Ph.D. in Medicine

Aarhus University

December 2010 - May 2014

Certifications
Publications
JOURNAL ARTICLE
Novel variant of AVPR2 giving rise to X-linked congenital nephrogenic diabetes insipidus in a 7-month-old Danish boy @article{2670abac9c454e00903912b96ad39cc4, title = "Novel variant of AVPR2 giving rise to X-linked congenital nephrogenic diabetes insipidus in a 7-month-old Danish boy", abstract = "Patients affected with congenital nephrogenic diabetes insipidus (CNDI) have reduced ability to concentrate urine. Early diagnosis of CNDI is important to avoid recurrent episodes of severe dehydration. We present a Danish male suffering from typical symptoms and diagnosed with CNDI at the age of 7 months. Gene sequencing of this proband and his mother revealed a novel variant in the gene encoding the antidiuretic hormone receptor (AVPR2). The variant is a deletion of nucleotide c.151 in exon 2 of AVPR2 (GenBank NM_000054.4:c.151del). This 1bp deletion is predicted to cause a frameshift that results in tryptophan replacing valine at position 51 in AVPR2 and a premature stop codon three codons downstream (p.Val51Trpfs*3) likely resulting in faulty expression of the receptor. Identification of disease-causing variants such as the one described here contributes to precise diagnosis, especially in carriers and newborns, thus preventing the long-term physical and intellectual disability observed in some CNDI-patients.", keywords = "Antidiuretic hormone receptor 2, AVPR2, Genetic testing, X-linked congenital nephrotic diabetes insipidus", author = "Sollid, {Johanne Emy} and Shivani Joshi and Wason, {Malgorzata Pulczynska} and S{\o}ren Rittig and Christensen, {Jane Hvarregaard} and Konstantinos Kamperis", year = "2020", month = dec, doi = "10.1159/000508786", language = "English", volume = "10", pages = "124--129", journal = "Case Reports in Nephrology and Dialysis", issn = "2296-9705", publisher = "S. Karger AG", number = "3", } . Case Reports in Nephrology and Dialysis.
Shivani, Trine Korsgaard, Rene F. Andersen, Kristina Moeller, Tomás Seeman, Ludmila Podracká, Hans Eiberg, Søren Rittig(2020). Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome . European Journal of Pediatrics. 179. (9). p. 1481--1486. Springer
Shivani, Trine Korsgaard, René Frydensbjerg Andersen, Søren Hagstrøm, Søren Rittig(2019). Childhood onset steroid-sensitive nephrotic syndrome continues into adulthood . Pediatric Nephrology. 34. (4). p. 641--648. Springer
Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus @article{1890c88c2d4e49f1b68402b6c6173508, title = "Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus", abstract = "Congenital nephrogenic diabetes insipidus (CNDI) is characterized by the reduced ability of renal collecting duct cells to reabsorb water in response to the antidiuretic effect of vasopressin. Chronic polyuria and polydipsia are the hallmarks of the disease. Approximately 90% of all patients with CNDI have X-linked inherited disease caused by variants in the arginine vasopressin receptor 2 (AVPR2) gene. We present genetic findings in 34 individuals from 19 kindreds including one or more family members with CNDI. Coding regions of AVPR2 were sequenced bi-directionally. We identified eight novel disease-causing variants in AVPR2, p.Arg68Alafs*124, p.Ser171Arg, p.Gln174Pro, p.Trp200Arg, p.Gly201Cys, p.Gly220Arg, p.Val226Glu, and p.Gln291Pro in nine kindreds. In all three families with more than one affected individual, the novel variants segregated with the disease. We also identified eight recurrent disease-causing variants, p.Val88Met, p.Leu111Valfs*80, p.Arg113Trp, p.Tyr124*, p.Ser167Leu, p.Thr207Asn, p.Arg247Alafs*12, and p.Arg337* in ten kindreds. Our findings contribute to the growing list of AVPR2 variants causing X-linked CNDI.CONCLUSION: Being a rapid diagnostic tool for CNDI, direct sequencing of AVPR2 should be encouraged in newborns with familial predisposition to CNDI. What is Known: • Disease-causing variants in AVPR2 cause X-linked congenital nephrogenic diabetes insipidus (CNDI). • DNA sequencing of AVPR2 is rapid, facilitates differential diagnosis, early intervention, and genetic diagnosis thus reducing morbidity in CNDI. What is New: • We identified eight novel disease-causing variants in AVPR2: p.Arg68Alafs*124, p.Ser171Arg, p.Gln174Pro, p.Trp200Arg, p.Gly201Cys, p.Gly220Arg, p.Val226Glu, and p.Gln291Pro, thereby adding to the growing list of AVPR2 disease-causing variants and emphasizing the importance of genetic testing in CNDI.", author = "Shivani Joshi and Helene Kvistgaard and Konstantinos Kamperis and Mia F{\ae}rch and S{\o}ren Hagstr{\o}m and Niels Gregersen and S{\o}ren Rittig and Christensen, {Jane Hvarregaard}", year = "2018", month = sep, doi = "10.1007/s00431-018-3132-z", language = "English", volume = "177", pages = "1399--1405", journal = "European Journal of Pediatrics", issn = "0340-6199", publisher = "Springer", number = "9", } . European Journal of Pediatrics.
Shivani, Per Brandström, Niels Gregersen, Søren Rittig, Jane Hvarregaard Christensen(2017). Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus . Case Reports in Nephrology and Dialysis. 7. (3). S. Karger AG
Genetics of steroid-resistant nephrotic syndrome @article{cc5d12631fbb4f0993e4b5d0856dd87a, title = "Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing", abstract = "Identification of genes, associated mutations and genotype-phenotype correlations in steroid-resistant nephrotic syndrome (SRNS) is being translated to clinical practice through genetic testing. This review provides an update on the genes and mutations associated with SRNS along with a suggested approach for genetic testing in patients with SRNS.", keywords = "Drug Resistance, Female, Genetic Testing, Humans, Intracellular Signaling Peptides and Proteins, Male, Membrane Proteins, Mutation, Nephrotic Syndrome, Polymorphism, Genetic, Sensitivity and Specificity, Steroids", author = "S Joshi and R Andersen and Bente Jespersen and S{\o}ren Rittig", note = "{\textcopyright}2013 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.", year = "2013", month = sep, doi = "10.1111/apa.12317", language = "English", volume = "102", pages = "844--56", journal = "Acta Paediatrica", issn = "0803-5253", publisher = "Wiley-Blackwell Publishing Ltd.", number = "9", } . Acta paediatrica (Oslo, Norway : 1992).
CONFERENCE POSTER
Shivani, René Frydensbjerg Andersen, Bente Jespersen, Maria Rasmussen, Line Bille Madsen, Anita Hansen, Subagini Nagaraj, Margrethe Kjeldsen, Rikke Katrine Jentoft Olsen, Niels Gregersen, et al.(2015). Genetic Variants in NPHS1, NPHS2 and INF2 in Patients with Primary Focal Segmental Glomerulosclerosis in Denmark . 10th International Podocyte Conference, Freiburg, Germany, 04/06/2014.
Shivani, René Frydensbjerg Andersen, Bente Jespersen, Margrethe Kjeldsen, Rikke Katrine Jentoft Olsen, Søren Rittig(2015). High-resolution melting analysis to study gene variations in Nephrotic Syndrome . 12th International Symposium on Mutation in the Genome, Lake Louise, Canada, 22/04/2013.
Shivani, Niels Gregersen, Jane Hvarregaard Christensen, Søren Rittig, Per Brandstrom(2015). Novel de novo AVPR2 mutation causing CNDI in Swedish patient . 12th International Conference on human genetics, Montreal, Canada, 11/10/2011.
DISSERTATION THESIS
Genetic Aspects of Nephrotic Syndrome @phdthesis{1b1e7c8691684e4cae618ed9e797d117, title = "Genetic Aspects of Nephrotic Syndrome", abstract = "Nephrotic syndrome (NS) is characterized by severe proteinuria, hypoalbuminemia, and edema. Depending on response to steroid treatment, patients either have steroid sensitive NS (SSNS) or steroid resistant NS (SRNS). Patients with SRNS often have a poor renal prognosis, focal segmental glomerulosclerosis (FSGS) in a renal biopsy, and a high risk of developing end stage renal disease. Variants in several NS genes like NPHS1, NPHS2, PLCE1, ACTN4, TRPC6, and INF2 have improved our understanding of the pathogenesis of SRNS.Patients with SSNS generally have a good renal prognosis but often develop steroid dependence or become frequent relapsers. Repeated courses of corticosteroid treatment often cause significant associated morbidity. Familial occurrence of SSNS is rare and suggests a potential genetic origin. However, very little data on molecular genetics of familial SSNS is available in literature and no causal genes have yet been identified. Genetic aspects of NS bear important implications in therapeutic decisions and genetic counselling in SRNS patients and family members. During the present Ph.D. project we have studied the influence of genetic factors in patients with SRNS and familial SSNS.Study I is the first study to describe the genetic findings in 39 patients with sporadic FSGS and/or SRNS, in a highly selected Danish population. We developed a screening tool (high resolution melting analysis) to search for variants in NPHS1, NPHS2, and INF2 genes. This method was shown to be highly sensitive and effective. The presence of variants could explain the disease phenotype in 13 % of the patients and 23 % had variants of unknown significance. The spectrum of observed variants did not differ significantly from published reports. We report the first gross deletion in NPHS2. Our study emphasized the need for functional studies of glomerular proteins to reduce the uncertainty about genotype-phenotype correlations in NS genes. Co-existing variants in NPHS1 and NPHS2 have been speculated to result in NS through di-genic inheritance. In study II we examined a novel form of SRNS in a family with severe SRNS and co-existing variants in NPHS1 and NPHS2 in the proband. A 3 years older asymptomatic sibling of the proband also carried the same genotype. The co-existance of these variants suggests that disease causing hints may occur as variations in one gene and a second variation which act as a modifier. Nonetheless, such a combination might have variable penetrance and hence different age of onset. Thus, genetic testing in SRNS is important as it might give clues to the cause and save exposure of immunosuppressive medications in future patients with same genotype.Families comprising siblings with SSNS are rare, but do indicate a genetic predisposition. In study III we investigated a potential genetic linkage in 9 European SSNS families with at least two affected siblings. Using SNP6 whole genome linkage analysis we could establish linkage of the disease phenotype to chromosome 15 with a maximum logarithm of odds score of Z=3.02. In addition, four families also showed linkage to six informative markers on chromosome 6p in the region 27.29 - 33.97 Mbp, a region containing several HLA genes. Identification of this chromosomal region is a step closer to providing molecular into insight into familial SSNS. In Study IV we performed a literature study on published disease causing variants in SRNS and based upon available evidence we developed a practical diagnostic algorithm for genetic evaluation of patients with SRNS. Several gene variants are involved in the pathogenesis of SRNS and genetic testing is emerging as a useful diagnostic tool in SRNS. Identification of the genetic background behind SRNS bears implications for clinical course, treatment response, risk for post-transplant proteinuria, and prenatal diagnosis. An approach for genetic testing based on current evidence seems cost effective and may help in the best possible management of SRNS. In all, the present Ph.D. project showed that identification of variants in NS genes does explain the genetic cause of FSGS and/or SRNS in some patients. Such findings can perhaps save exposure and associated side effects of extensive immunosuppressive treatment in future patients with the same genotype. Our findings also demonstrate that inheritance of different alleles at independent genetic loci in NS may contribute to the disease phenotype. SSNS is clinically distinct from SRNS and its pathogenesis is still unclear. Our study showed linkage of familial SSNS to a candidate location on Chr15 and HLA rich region in Chr6, both are locations where no NS genes are identified yet. Increasing our knowledge of genetic aspects of NS by identifying new genes, novel variants, their functions, and to establish genotype phenotype correlations might be translated into clinical practice and might improve the overall clinical management of nephrotic syndrome.", keywords = "nephrotic syndrome, Genetic Testing, steroid resistant nephrotic syndrome , steroid sensitive nephrotic syndrome, SNP6 whole genome linkage analysis ", author = "Shivani Joshi", year = "2014", month = may, day = "28", language = "English", publisher = "SUN-TRYK Aarhus University The University Park Ole Worms All{\'e} 4, Building 1163 DK - 8000 Aarhus C", } .