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Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans

NATURE REVIEWS GENETICS (2023)

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Article Biology

Exploring therapeutic strategies for infantile neuronal axonal dystrophy (INAD/PARK14)

Guang Lin et al.

Summary: Infantile neuroaxonal dystrophy is a lethal pediatric neurodegenerative disorder caused by recessive variants in PLA2G6 gene. Dysregulation of retromer function, ceramide metabolism, endolysosomal pathway, and mitochondrial morphology was observed in INAD patient-derived neurons. Drugs targeting these pathways, as well as an AAV-based gene therapy approach, showed promising therapeutic effects in INAD models.

ELIFE (2023)

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Article Genetics & Heredity

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

Burak Tepe et al.

Summary: This study discovered that the Integrator complex is involved in the processing of various types of RNAs and that INTS11 is the catalytic subunit responsible for RNA cleavage. Mutations in INTS11 have been found to be associated with developmental delay, intellectual disability, impaired motor development, and brain atrophy. The study used Drosophila as a model organism to investigate the effects of different variants of INTS11.

AMERICAN JOURNAL OF HUMAN GENETICS (2023)

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Article Cell Biology

Very-long-chain fatty acids induce glial-derived sphingosine-1-phosphate synthesis, secretion, and neuroinflammation

Hyung-lok Chung et al.

Summary: VLCFAs are converted into S1P by glia through a glial-specific S1P pathway. Excess S1P leads to neuroinflammation, NF-KB activation, and macrophage infiltration into the CNS. Suppressing S1P function or using an S1P receptor antagonist attenuates the phenotypes caused by excess VLCFAs, while elevating VLCFA levels exacerbates them. In a mouse model of MS, reducing VLCFA with bezafibrate improves the phenotypes, and simultaneous use of bezafibrate and fingolimod synergizes to improve EAE, suggesting that lowering VLCFA and S1P is a potential treatment for MS.

CELL METABOLISM (2023)

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Article Genetics & Heredity

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Jonathan C. Andrews et al.

Summary: This study identified two novel variants (p.R104G and p.A91P) in MRTFB that are associated with neurodevelopmental disorders in children. These variants lead to changes in the regulation of MRTFB protein, potentially impacting embryonic development and neural function.

GENETICS IN MEDICINE (2023)

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Article Genetics & Heredity

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

Sharayu Jangam et al.

Summary: This study identifies a novel EZH1 variant associated with a neurodevelopmental disorder. Functional analysis in Drosophila suggests that this variant may have a gain-of-function effect.

GENETICS (2023)

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Review Neurosciences

Sphingolipids in neurodegenerative diseases

Xueyang Pan et al.

Summary: Neurodegenerative Diseases (NDDs) are a group of disorders that cause progressive deficits of neuronal function. Recent evidence argues that sphingolipid metabolism is affected in a surprisingly broad set of NDDs. Here, we summarize studies using fly models and/or patient samples to demonstrate the nature of the defects in sphingolipid metabolism, the organelles that are implicated, the cell types that are initially affected, and potential therapeutics for these diseases.

FRONTIERS IN NEUROSCIENCE (2023)

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Article Clinical Neurology

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Siddharth Srivastava et al.

Summary: Sphingolipids, abundant in myelin membranes, are crucial for the structural and signalling functions in the mammalian nervous system. Serine palmitoyltransferase (SPTSSA) is the enzyme responsible for the rate-limiting reaction in sphingolipid synthesis and its activity is tightly regulated by ORMDL proteins. Excessive sphingolipid synthesis due to impaired homeostatic regulation of serine palmitoyltransferase was found to be responsible for defects in early brain development and function. SRivastava et al. identified SPTSSA variants that disrupt ORMDL-mediated regulation of SPT, leading to hereditary spastic paraplegia.

BRAIN (2023)

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Article Neurosciences

Recent insights into the role of glia and oxidative stress in Alzheimer's disease gained from Drosophila

Lindsey D. Goodman et al.

Summary: Here, we discuss recent findings in AD research using Drosophila, focusing on mechanisms underlying glia-mediated neuroprotection, including glial lipid droplet formation, A beta 42-clearance, and the role of aberrant accumulation of reactive oxygen species.

CURRENT OPINION IN NEUROBIOLOGY (2022)

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Review Genetics & Heredity

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Samantha M. Baxter et al.

Summary: This article discusses the transformation and development of Mendelian disease genomic research, highlighting the role of the National Institutes of Health-supported Centers for Mendelian Genomics (CMGs) and their impact on the research community. In addition to data sharing and candidate gene exchange, the CMGs provide resources, tools, and training to foster understanding of genes and genome variation.

GENETICS IN MEDICINE (2022)

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Article Multidisciplinary Sciences

A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C

Huiyan Huang et al.

Summary: The study identified a mutation in RAB5B p.Asp136His as a genetic mechanism for surfactant dysfunction disorder. Functional and genetic analysis revealed that this mutation causes defects in the processing and trafficking of surfactant proteins, leading to interstitial lung disease.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2022)

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Article Multidisciplinary Sciences

Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling

Paul C. Marcogliese et al.

Summary: Truncation of IRF2BPL leads to severe childhood-onset neurodegenerative disorders. Through studies in Drosophila and zebrafish, it has been found that IRF2BPL can repress Wnt transcription, and dysregulation of Wnt signaling is associated with neural dysfunction and axonal loss.

SCIENCE ADVANCES (2022)

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Article Biotechnology & Applied Microbiology

CRISPR prime editing with ribonucleoprotein complexes in zebrafish and primary human cells

Karl Petri et al.

Summary: This study demonstrated prime editing using purified ribonucleoprotein complexes, achieving desired edits in zebrafish embryos and human cells. However, unintended insertions, deletions, and guide RNA scaffold incorporations were also observed.

NATURE BIOTECHNOLOGY (2022)

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Article Genetics & Heredity

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

Federico Tessadori et al.

Summary: This study reports a cohort of individuals with de novo missense variants in six H4 genes, which are associated with neurodevelopmental features such as intellectual disability and developmental delay. Functional consequences of these variants were confirmed in zebrafish embryos.

AMERICAN JOURNAL OF HUMAN GENETICS (2022)

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Article Genetics & Heredity

Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures

Shenzhao Lu et al.

Summary: This study shows that variants in the TIAM1 gene are associated with developmental delay, intellectual disability, speech delay, and seizures. The fruit fly ortholog of TIAM1, still life (sif), is found to be important for neural function. These findings provide the first evidence of the loss-of-function role of TIAM1 in the human nervous system.

AMERICAN JOURNAL OF HUMAN GENETICS (2022)

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Article Developmental Biology

The great small organisms of developmental genetics: Caenorhabditis elegans and Drosophila melanogaster

Judith Kimble et al.

Summary: Experimental embryologists in the late 19th century proposed fundamental mechanisms of development, but the molecular basis remained elusive for a long time. By combining developmental biology with genetics, this obstacle was overcome. Fruit flies and nematodes played a pioneering role in unraveling the molecular mechanisms of developmental processes, highlighting the importance of studying these small invertebrate models for understanding animal development and human disease.

DEVELOPMENTAL BIOLOGY (2022)

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Article Biochemistry & Molecular Biology

The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder

Scott Barish et al.

Summary: In this study, two individuals with intellectual disability, epilepsy, and dysmorphic features were found to carry damaging variants in the DROSHA gene. Functional studies in model organisms suggest that these variants have a severe impact on the nervous system.

HUMAN MOLECULAR GENETICS (2022)

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Article Biochemistry & Molecular Biology

Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms

Yan Huang et al.

Summary: The Roundabout (Robo) receptors regulate axon repulsion in neurons, and variants in the human ROBO1 gene have been associated with various neurodevelopmental defects. This study reports two novel ROBO1 variants associated with distinct phenotypes and provides evidence from a fly model to support their functional effects.

HUMAN MOLECULAR GENETICS (2022)

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Article Biochemistry & Molecular Biology

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila

Hyung-Lok Chung et al.

Summary: This study provides functional evidence in a Drosophila model to establish de novo monoallelic EMC1 variants as causative of a neurological disease trait. Variation in glial-specific EMC1 dosage leads to pupal lethality, suggesting that altered stoichiometry of the multi-subunit protein complex EMC may be the cause.

HUMAN MOLECULAR GENETICS (2022)

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Article Endocrinology & Metabolism

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

Sara M. Fielder et al.

Summary: The study identified a damaging variant in the PPP5C gene, which has not been associated with Mendelian diseases previously. Functional evaluation in C. elegans showed that the variant is likely a strong hypomorph or complete loss-of-function.

MOLECULAR GENETICS AND METABOLISM (2022)

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Article Genetics & Heredity

New insights into the genetic etiology of Alzheimer's disease and related dementias

Celine Bellenguez et al.

Summary: By characterizing the genetic landscape of Alzheimer's disease and related dementias, new loci have been identified and a new genetic risk score associated with the risk of future Alzheimer's disease and dementia has been generated.

NATURE GENETICS (2022)

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Article Genetics & Heredity

The national economic burden of rare disease in the United States in 2019

Grace Yang et al.

Summary: This study provides a comprehensive assessment of the total economic burden of rare diseases in the United States in 2019, revealing a total economic burden of $997 billion, with direct medical costs and indirect costs being the major contributors. The study calls for innovative approaches in care, management, and treatment of rare diseases from scientific communities, policy leaders, and other key stakeholders.

ORPHANET JOURNAL OF RARE DISEASES (2022)

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Review Genetics & Heredity

'Fly-ing' from rare to common neurodegenerative disease mechanisms

Mengqi Ma et al.

Summary: The use of fruit flies in studying the function of genes associated with rare neurological diseases can enhance our understanding of common disease mechanisms.

TRENDS IN GENETICS (2022)

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Article Cell Biology

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Paul C. Marcogliese et al.

Summary: This study functionally tested the effects of missense mutations in autism spectrum disorder (ASD) using fruit flies and found that 38% of the variants caused functional alterations. Additionally, GLRA2 was identified as the cause of neurodevelopmental phenotypes in 13 previously undiagnosed subjects, going beyond ASD. Functional characterization of variants in ASD candidate genes points to conserved neurobiological mechanisms and facilitates gene discovery for rare neurodevelopmental diseases.

CELL REPORTS (2022)

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Article Genetics & Heredity

Harmonizing model organism data in the Alliance of Genome Resources

Paul W. Sternberg

Summary: The Alliance of Genome Resources is a collaborative effort of 7 knowledgebase projects aimed at providing better service, a harmonized view of data, and a sustainable infrastructure. It offers comparative views of gene function, gene expression, and human disease relevance. The information is presented on uniform gene pages for easy summarization.

GENETICS (2022)

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Article Genetics & Heredity

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

Erik Rosenhahn et al.

Summary: This study identifies bi-allelic loss-of-function variants in the PPFIBP1 gene as a cause of severe neurodevelopmental disorder, characterized by early-onset epilepsy, microcephaly, and periventricular calcifications.

AMERICAN JOURNAL OF HUMAN GENETICS (2022)

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Article Genetics & Heredity

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Kerith-Rae Dias et al.

Summary: This study identifies a novel neurocognitive disorder caused by variants in the ZMYND8 gene. The disorder is characterized by intellectual disability with variable cardiovascular, ophthalmologic, and minor skeletal anomalies. Functional analysis reveals that missense variants in ZMYND8 disrupt its interaction with Drebrin and GATAD2A, potentially leading to impaired cognitive function.

GENETICS IN MEDICINE (2022)

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Article Biology

An expanded toolkit for Drosophila gene tagging using synthesized homology donor constructs for CRISPR-mediated homologous recombination

Oguz Kanca et al.

Summary: In this study, a new set of constructs was developed to replace the coding region of genes lacking suitable introns, generating knock-out/knock-in alleles that express GAL4 similarly to the targeted gene. Custom vector backbones were also developed to improve and facilitate transgenesis in fruit flies. These upgrades significantly enhance the ability to target nearly every fly gene.

ELIFE (2022)

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Article Multidisciplinary Sciences

Neuronal activity induces glucosylceramide that is secreted via exosomes for lysosomal degradation in glia

Liping Wang et al.

Summary: Recessive variants in GBA1 can lead to Gaucher disease, a common lysosome storage disease. Using CRISPR-Cas9, we generated a null allele of the Drosophila ortholog Gba1b and found that it is expressed in glia but not in neurons. GlcCer is synthesized upon neuronal activity and transported from neurons to glia through exosomes. Glial TGF-beta/BMP induces GlcCer transfer from neurons to glia, and the White protein promotes GlcCer trafficking to glial lysosomes for degradation.

SCIENCE ADVANCES (2022)

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Article Genetics & Heredity

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability

Yan Huang et al.

Summary: This study identified the association between the MTSS2 c.2011C>T variant and syndromic intellectual disability, and investigated its impact on neural function in flies.

AMERICAN JOURNAL OF HUMAN GENETICS (2022)

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Article Genetics & Heredity

De novo variants in FRMDS are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement

Shenzhao Lu et al.

Summary: This article describes the association between rare missense variants in the FRMD5 gene and developmental delay, intellectual disability, ataxia, seizures, and abnormalities of eye movement. Further research shows that the variants also cause similar symptoms in fruit flies, and some variants have dominant-negative effects.

AMERICAN JOURNAL OF HUMAN GENETICS (2022)

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Article Cell Biology

Promoting validation and cross-phylogenetic integration in model organism research

Keith C. Cheng et al.

Summary: Model organism research is important for understanding biology and disease, as the molecular and cellular language of life is evolutionarily conserved. It is used to study gene function, develop techniques, and test drug efficacy. To maximize the value of model organisms, there is a need for improved rigor, validation, reproducibility, and translatability in research.

DISEASE MODELS & MECHANISMS (2022)

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Article Biochemistry & Molecular Biology

The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival

Mengqi Ma et al.

Summary: This study identifies de novo loss-of-function variants in the SUPT16H gene that are associated with developmental and neurological defects. Fruit fly experiments demonstrate that these variants lead to abnormal cell growth and survival.

HUMAN MOLECULAR GENETICS (2022)

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Article Medicine, Research & Experimental

Developing antisense oligonucleotides for a TECPR2 mutation-induced, ultra-rare neurological disorder using patient-derived cellular models

Luis A. Williams et al.

Summary: This study describes a novel strategy to treat a rare neurological disorder by restoring the expression of TECPR2 protein through exon skipping, and demonstrates its efficacy in vitro and in vivo.

MOLECULAR THERAPY-NUCLEIC ACIDS (2022)

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Review Pharmacology & Pharmacy

Towards Personalized Allele-Specific Antisense Oligonucleotide Therapies for Toxic Gain-of-Function Neurodegenerative Diseases

Jacob Helm et al.

Summary: Antisense oligonucleotides (ASOs) are single-stranded nucleic acid strings that can selectively modify protein synthesis. Personalized allele-specific ASO therapies for neurodegenerative diseases target mutant mRNA while preserving wild type mRNA expression.

PHARMACEUTICS (2022)

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Article Biochemistry & Molecular Biology

Humanized zebrafish as a tractable tool for in vivo evaluation of pro-myelinating drugs

Felix Haberlein et al.

Summary: The experimental power of humanized zebrafish is explored in this study to identify effective pro-remyelination compounds for the treatment of multiple sclerosis.

CELL CHEMICAL BIOLOGY (2022)

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Article Biochemistry & Molecular Biology

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Joost Kummeling et al.

Summary: Mutations in histone methyltransferases (HMTs), such as SETD1A, are major contributing factors in neurodevelopmental disorders (NDDs). Identifying clinical features of the Mendelian syndrome associated with haploinsufficiency of SETD1A, this study found that individuals with SETD1A variants present with global developmental delay, intellectual disability, facial dysmorphisms, behavioral and psychiatric problems. Patient-derived cell lines with SETD1A variants showed DNA damage repair defects, suggesting these variants act as loss-of-function alleles. The study also revealed the importance of SETD1A in postmitotic neurons for normal memory function in Drosophila melanogaster, indicating a role in post development neuronal processes and cognitive functioning.

MOLECULAR PSYCHIATRY (2021)

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Article Neurosciences

Seizure Phenotype and Underlying Cellular Defects in Drosophila Knock-In Models of DS (R1648C) and GEFS+ (R1648H) SCN1A Epilepsy

Alexa Joanna Roemmich et al.

Summary: Mutations in the voltage-gated sodium channel gene SCN1A are associated with human epilepsy disorders. This study found that Drosophila lines with R-C or R-H mutations showed reduced lifespan and seizures, while electrophysiological recordings revealed sustained neuronal depolarizations and altered firing frequency. The only significant change observed in sodium currents was a hyperpolarized deactivation threshold in R-C and R-H mutants.

ENEURO (2021)

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Article Pathology

Translational Diagnostics An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases

Jordi Pijuan et al.

Summary: Diagnosis is crucial for the management of rare disease patients. Developing novel strategies like the in-house Translational Diagnostics Program (TDP) can help validate genetic variants and resolve inconsistencies between genotype and phenotype.

JOURNAL OF MOLECULAR DIAGNOSTICS (2021)

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Article Genetics & Heredity

Rare and de novo coding variants in chromodomain genes in Chiari I malformation

Brooke Sadler et al.

Summary: The study identified a significant enrichment of rare and de novo non-synonymous variants in chromodomain (CHD) genes among individuals with Chiari I malformation (CM1), suggesting a potential role of these genes in CM1 pathogenesis. Additionally, individuals with CM1 were found to have significantly increased head circumference, with many harboring CHD rare variants exhibiting macrocephaly.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Article Genetics & Heredity

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism

Chunmei Li et al.

Summary: The study revealed bi-allelic variants in the UBR7 gene associated with a neurodevelopmental syndrome characterized by epilepsy, ptosis, and hypothyroidism, different from Johanson-Blizzard syndrome. The findings further implicate the UBR protein family and the Notch signaling pathway in the neurodevelopmental syndrome, indicating a potential role in histone regulation.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Article Genetics & Heredity

Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy

Ken Saida et al.

Summary: Cerebellar ataxia is a genetically heterogeneous disorder caused by biallelic loss-of-function variants in the GEMIN5 gene, leading to neurodevelopmental delay, hypotonia, and cerebellar atrophy/hypoplasia. Zebrafish models further confirmed the pathogenicity of these variants.

CLINICAL GENETICS (2021)

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Article Biochemistry & Molecular Biology

FlyBase: updates to the Drosophila melanogaster knowledge base

Aoife Larkin et al.

Summary: FlyBase is an essential online database for researchers using Drosophila melanogaster, offering a wide range of genetic, molecular, genomic resources. New features include Pathway Reports, paralog information, disease models based on orthology, customizable tables, and expression and disease data overview displays. Recent updates include developmental proteome incorporation, GAL4 search tab upgrades, additional Experimental Tool Reports, migration to JBrowse for genome browsing, and improvements to batch queries/downloads and the Fast-Track Your Paper tool.

NUCLEIC ACIDS RESEARCH (2021)

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Article Multidisciplinary Sciences

Precise genome engineering in Drosophila using prime editing

Justin A. Bosch et al.

Summary: The study successfully applied prime editing in Drosophila to introduce premature stop codons and achieve efficient germline transmission, demonstrating its potential for studying gene function in Drosophila.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2021)

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Article Biology

The Divider Assay is a high-throughput pipeline for aggression analysis in Drosophila

Budhaditya Chowdhury et al.

Summary: Chowdhury et al. developed the Divider Assay, a simplified experimental procedure that allows Drosophila researchers to conduct aggression analysis over a long period of time and in complete darkness. They observed a peak in fighting during the middle of the day. This pipeline is expected to facilitate high-throughput screening for aggression research.

COMMUNICATIONS BIOLOGY (2021)

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Article Genetics & Heredity

The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems

Ainslie Tisdale et al.

Summary: Patients with rare diseases (RD) often have their medical needs underestimated in healthcare systems, leading to higher medical costs. Prolonged diagnostic journeys may result in disease progression and irreversible complications.

ORPHANET JOURNAL OF RARE DISEASES (2021)

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Article Multidisciplinary Sciences

Neuronal ROS-induced glial lipid droplet formation is altered by loss of Alzheimer's disease-associated genes

Matthew J. Moulton et al.

Summary: The study reveals that the increasing genetic risk factors for Alzheimer's disease have unclear contributions to the disease mechanism, but the neuron-to-glia lipid transfer pathway induced by ROS plays a key role in protecting against neurotoxicity.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2021)

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Article Genetics & Heredity

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

Alban Ziegler et al.

Summary: This study identified bi-allelic loss-of-function variants in the IPO8 gene in 12 individuals with a syndromic association characterized by cardio-vascular anomalies, joint hyperlaxity, dysmorphic features, and developmental delay. Functional studies in zebrafish demonstrated the critical role of IPO8 in TGF-beta signaling during development, linking it to connective tissue defects.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Article Genetics & Heredity

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Lore Pottie et al.

Summary: Variants in LTBP1 result in a range of connective tissue and skeletal abnormalities in patients, particularly affecting the crucial processes of skin and bone ECM assembly and homeostasis.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Article Biochemistry & Molecular Biology

Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features

Xi Luo et al.

Summary: This study identified two individuals with rare de novo missense variants in the Polycomb group gene RNF2, leading to a new and recognizable genetic disorder characterized by severe physical and intellectual disabilities. Structural analysis suggested that the variants likely impact the interaction between RNF2 and other proteins, and functional data in Drosophila supported these variants behaving as loss-of-function alleles in vivo. These findings highlight the significance of chromatin regulators, such as PcG genes, in Mendelian disorders.

HUMAN MOLECULAR GENETICS (2021)

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Article Genetics & Heredity

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

Dustin Baldridge et al.

Summary: With the decrease in sequencing costs, there has been a rapid increase in genetic and genomic data, raising the challenge of determining which variants cause phenotypes and diseases. Platforms using model organisms have enabled the discovery of new gene-disease relationships and the identification of variant pathogenicity, leading to suggestions for new therapies.

ORPHANET JOURNAL OF RARE DISEASES (2021)

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Article Genetics & Heredity

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

Ronit Marom et al.

Summary: Loss-of-function variants in COPB2, a component of the COPI complex, can lead to osteoporosis, fractures, and developmental delay by affecting intracellular trafficking. Studies show its important role in collagen secretion and cellular organelle structure.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Article Genetics & Heredity

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Lindsey D. Goodman et al.

Summary: The Drosophila gene dTnpo, orthologous to TNPO2, is essential for neuronal maintenance and function, with downregulation in mature neurons disrupting activity and survival. Mutant alleles or downregulation of dTnpo causes developmental defects, while upregulation results in similar phenotypes as loss of Transportin activity. Proband-associated variants in TNPO2 disrupt protein function, correlating to their location within the protein. Overall, TNPO2 variants are causative for neurodevelopmental abnormalities.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Review Cell Biology

A zebrafish-centric approach to antiepileptic drug development

Scott C. Baraban

Summary: Zebrafish are a powerful model for genetic and developmental studies, with PTZ commonly used to induce seizures. Using this model, researchers have developed simple assays to monitor and quantify seizures in larvae.

DISEASE MODELS & MECHANISMS (2021)

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Article Genetics & Heredity

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Thomas A. Ravenscroft et al.

Summary: Variants in GDF11 can lead to abnormalities in the development of multiple organ systems, with partial variants affecting human neuronal development.

GENETICS IN MEDICINE (2021)

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Editorial Material Genetics & Heredity

One is the loneliest number: genotypic matchmaking using the electronic health record

E. Brokamp et al.

GENETICS IN MEDICINE (2021)

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Article Endocrinology & Metabolism

Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA

Thomas Boulin et al.

Summary: A novel NBEA missense variant associated with neurodevelopmental delay and epilepsy was identified. Modeling studies showed that this variant was damaging to in vivo function similar to a reference null mutation. This provides strong evidence for the molecular diagnosis and pathogenicity of the NBEA variant.

MOLECULAR GENETICS AND METABOLISM (2021)

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Article Genetics & Heredity

A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease

Douglas P. Wightman et al.

Summary: This study identified seven new genetic loci associated with Alzheimer's disease through a genome-wide association study, implicating microglia and immune cells in late-onset disease. The research highlights the relevance of microglia, immune cells, and protein catabolism to late-onset Alzheimer's disease, while prioritizing previously unidentified genes for further investigation. The results are expected to contribute to larger meta-analyses to uncover additional genetic variants affecting Alzheimer's pathology.

NATURE GENETICS (2021)

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Review Genetics & Heredity

Yeast as a Tool to Understand the Significance of Human Disease-Associated Gene Variants

Tiziana Cervelli et al.

Summary: Saccharomyces cerevisiae has proven to be versatile in studying gene variants involved in different diseases and pathways.

GENES (2021)

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Article Biochemistry & Molecular Biology

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

Stephanie Nguengang Wakap et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2020)

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Article Genetics & Heredity

The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms

Kym M. Boycott et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2020)

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Article Genetics & Heredity

Large-Scale Transgenic Drosophila Resource Collections for Loss- and Gain-of-Function Studies

Jonathan Zirin et al.

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