A Mendelics | Mendelics

How we work

With a very well established infrastructure and processes, Mendelics has consolidated a quality management system focused on meeting international quality standards, audited on a yearly basis by nationally and internationally recognized entities.

Mission

To make genetic diagnosis fast, accurate, and accessible to everyone who needs it.

Vision

To be one of the main world references in genomic diagnosis and interpretation.

Values

Ethics, seriousness, honesty, reliability, commitment, dedication, accessibility, precision, efficiency, innovation.

Our History

Established in 2012, Mendelics is the first and largest Brazilian laboratory specialized in genetic diagnosis tests for rare diseases and cancer through the Next Generation Sequencing (NGS) technique.

We’re pioneers and leaders in Next Generation Sequencing (NGS) in Latin America, being the only Latin American genomic base laboratory to obtain accreditations from CAP (College of American Pathologists – No. 8671464), PALC (Program for Accreditation of Clinical Laboratories – # 32290508) and INMETRO in NBR/ISO-15189.

Awarded Platform

Mendelics was granted with the MIT award for innovation with Abracadabra®, a platform developed in-house to analyze the sequencing results of our patients’ samples.

By using artificial intelligence, Abracadabra® analyzes the genetic variants found in the samples and classify them according to their clinical relevance (from benign to pathogenic).

The analysis in Abracadabra® are exclusively carried out by geneticist physicians, who are also responsible for elaborating the reports.

Board of Directors

Dr. David Schlesinger

CEO
  • Clinical Neurologist, Ph.D. in Human Genetics from the University of São Paulo (USP)
  • Undergraduate degree in Medicine from the University of São Paulo (USP)

Dr. André Valim

BUSINESS DIRECTOR
  • Residency in Psychiatry at USP’s HC
  • Undergraduate degree in Medicine from the University of São Paulo (USP)

Dr. João Paulo Kitajima

BIOINFORMATICS DIRECTOR
  • Ph.D. in Computer Sciences from the Univ. Grenoble
  • Post-doctorate degree in Bioinformatics at UNICAMP
  • Doctorate degree in Informatique from the Institut National Polytechique de Grenoble, INPG in France
  • Master’s degree in Computer Science from the UFRGS
  • Undergraduate degree in Data Processing Technology from the UnB

Prof. Dr. Fernando Kok

MEDICAL DIRECTOR
  • Full Professor of Pediatric Neurology at University of São Paulo (USP)
  • Post-doctorate degree in Neurogenetics at Johns Hopkins University
  • Doctorate degree in Neurology from the University of São Paulo (USP)
  • Residency in Pediatric Neurology at USP’s HC
  • Undergraduate degree in Medicine by USP

In the Media

Technology Innovation

By using artificial intelligence and assistance provided by Abracadabra, outside of the United States, Mendelics is currently considered as being the main submitter of genetic variants of ClinVar, the largest international database for the publication of human genetic variants.

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Pioneer in Next Generation Sequencing (NGS) in Latin America

Mendelics’ laboratory has the largest sample processing capacity of Latin America, being capable of analyzing more than 10 thousand whole exome sequencing per month.

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Mendelics’ Accreditations

Laboratory accreditations contribute with information which allows patients and physicians to evaluate if a laboratory presents technical competence, reliable results and reasonable costs.

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Latest Technical Articles and Materials

Genomic monitoring unveil the early detection of the SARS-CoV-2 B.1.351 (beta) variant (20H/501Y.V2) in Brazil

Genomic monitoring unveil the early detection of the SARS-CoV-2 B.1.351 (beta) variant (20H/501Y.V2) in Brazil

Abstract Sao Paulo State, currently experiences a second COVID-19 wave overwhelming the healthcare system. Due to the paucity of SARS-CoV-2 complete genome sequencing, we established a Network for Pandemic Alert of Emerging SARS-CoV-2 Variants to rapidly understand and monitor the spread of SARS-CoV-2 variants into the state. Through analysis of 210 SARS-CoV-2 complete genomes obtained […]

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Early role for a Na +,K +-ATPase ( ATP1A3) in brain development

Early role for a Na +,K +-ATPase ( ATP1A3) in brain development

Abstract Osmotic equilibrium and membrane potential in animal cells depend on concentration gradients of sodium (Na+) and potassium (K+) ions across the plasma membrane, a function catalyzed by the Na+,K+-ATPase α-subunit. Here, we describe ATP1A3 variants encoding dysfunctional α3-subunits in children affected by polymicrogyria, a developmental malformation of the cerebral cortex characterized by abnormal folding […]

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Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis

MECP2-related conditions in males: A systematic literature review and 8 additional cases

A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant

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