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Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Human Genetics01:28

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Pharmacogenomics: Identification of New Drug Targets01:29

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Overview
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Incomplete Dominance01:43

Incomplete Dominance

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Related Experiment Video

Updated: Apr 17, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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New genotype-phenotype correlations and management recommendations for individuals with RERE variants.

David Curtis1, Xiaonan Zhao2, Nichole M Owen2

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|April 16, 2026
PubMed
Summary

Pathogenic RERE variants cause neurodevelopmental disorders with varying symptoms. Specific variant types correlate with distinct clinical features, informing tailored management and genetic counseling for affected individuals.

Keywords:
1p36 deletionGenotype-phenotype correlationsNEDBEHNeurodevelopmental disorderRERE

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Molecular Biology

Background:

  • RERE gene variants are implicated in neurodevelopmental disorders.
  • Understanding genotype-phenotype correlations is crucial for clinical management.

Purpose of the Study:

  • Define the phenotypic spectrum of RERE variants.
  • Establish genotype-phenotype correlations for RERE-related disorders.
  • Inform clinical management and genetic counseling for neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH).

Main Methods:

  • Assembled a cohort of 54 individuals with RERE variants.
  • Classified individuals into five sub-cohorts based on variant type and location.
  • Analyzed phenotypic features and performed protein modeling.

Main Results:

  • Developmental delay, intellectual disability, and autism are common.
  • Loss-of-function variants associate with fewer anomalies and are often inherited.
  • Histidine-rich region (HRR) variants associate with more multisystem phenotypes and de novo occurrence.

Conclusions:

  • Expanded the clinical spectrum of RERE-related disorders.
  • Refined genotype-phenotype correlations for RERE variants.
  • Support variant-specific approaches for management and genetic counseling.