Nada Derar
Assistant Professor of GeneticsDownloadHi-Res Photo
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Appointments
Genetics
Primary
Contact Info
Clinical Genetics Faculty & Staff
333 ceder street , Aprt 1406
New Haven , CT 06519
United States
About
Titles
Assistant Professor of Genetics
Biography
I am an Assistant Professor in Clinical Genetics, with triple board certifications in Internal Medicine, Clinical Genetics, and Medical Biochemical Genetics. My career has been dedicated to advancing the understanding and application of genetics in clinical practice. I am passionate about teaching, research, and providing top-notch patient care, which drives my work in both academic and clinical settings. My diverse expertise allows me to contribute meaningfully to the medical community and support the next generation of healthcare professionals.
Appointments
Genetics
Assistant ProfessorPrimary
Other Departments & Organizations
Education & Training
- Laboratory Genetics and Genomics Fellowship
- Yale University (2026)
- Medical Biochemical Fellow
- Stanford University (2017)
- Clinical Genetics Fellow
- Stanford University (2016)
- Internal Medicine Resident
- University of Toledo (2014)
- MD
- Umm Al Qura University , Medical School (2006)
Research
Research at a Glance
Publications Timeline
A big-picture view of Nada Derar's research output by year.
12Publications
364Citations
Publications
2024
Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome
Zarate Y, Bosanko K, Derar N, Fish J. Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome. Clinical Genetics 2024, 106: 209-213. PMID: 38693682, PMCID: PMC11216868, DOI: 10.1111/cge.14540.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsSATB2-associated syndromeMutant miceAutosomal dominant disorderAnalyzed mutant miceEmbryonic mouse developmentDental anomaliesCraniofacial abnormalitiesMandibular distractionTrigeminal gangliaCraniofacial phenotypeClinical phenotypeDominant disorderCraniofacial developmentMouse developmentMicePhenotypic aspectsPatient dataThyroidSyndromeAbnormalitiesLower jawPharyngeal arch-derived structuresSATB2Mandibular morphologyPhenotype
2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L, Maddirevula S, Shamseldin HE, Khouj E, Helaby R, Hamid H, Almulhim A, Hashem MO, Abdulwahab F, Abouyousef O, Alqahtani M, Altuwaijri N, Jaafar A, Alshidi T, Alzahrani F, Mendeliome Group, Alkuraya FS. Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families. Nat Commun 2023, 14: 5269. PMID: 37644014, DOI: 10.1038/s41467-023-40909-3.Commentaries, Editorials and LettersPRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis
Shamseldin H, Derar N, Alzaidan H, AlHathal N, Alfalah A, Abdulwahab F, Alzaid T, Alkeraye S, Alobaida S, Alkuraya F. PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis. Human Genetics 2023, 142: 477-482. PMID: 36715754, DOI: 10.1007/s00439-023-02527-3.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsCanonical splice sitesAssociated with reduced abundanceDeleterious variantsLinkage locusSplice siteNormal transcriptionMissense variantsExome sequencingConsanguineous familyAutosomal recessive ichthyosisRecessive ichthyosisPRSS8VariantsKnockout miceCongenital ichthyosisExomeProstasinSkin histopathologyHuman patientsMissenseScaly skinLociIchthyosisTranscriptionFamily
2022
COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience
Altassan R, Sulaiman R, Alfalah A, Alwagiat W, Megdad E, Alqasabi D, Handoom B, Almesned M, Al-Amri H, Alhassnan Z, Alsayed M, Alzaidan H, Rahbeeni Z, Derar N, Al-Owain M, Albanyan E. COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience. European Journal Of Medical Genetics 2022, 65: 104602. PMID: 36049607, PMCID: PMC9424117, DOI: 10.1016/j.ejmg.2022.104602.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsInherited metabolic disordersInherited metabolic disorders patientsCOVID-19 infectionMetabolic disordersMetabolic decompensationEnergy metabolism disorderHigh riskOutcomes of COVID-19 infectionCourse of COVID-19 infectionClinical course of COVID-19 infectionAcute metabolic decompensationCross-sectional retrospective studyIntensive care managementIncidence of COVID-19 infectionClinical courseMedian ageSevere complicationsAcute pancreatitisRelated complicationsRetrospective studyIMD patientsMetabolic acidosisUnvaccinated patientsExposure to infectionDisease manifestations
2021
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes
Al-Hamed M, Kurdi W, Khan R, Tulbah M, AlNemer M, AlSahan N, AlMugbel M, Rafiullah R, Assoum M, Monies D, Shah Z, Rahbeeni Z, Derar N, Hakami F, Almutairi G, AlOtaibi A, Ali W, AlShammasi A, AlMubarak W, AlDawoud S, AlAmri S, Saeed B, Bukhari H, Ali M, Akili R, Alquayt L, Hagos S, Elbardisy H, Akilan A, Almuhana N, AlKhalifah A, Abouelhoda M, Ramzan K, Sayer J, Imtiaz F. Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes. Human Genetics 2021, 141: 101-126. PMID: 34853893, DOI: 10.1007/s00439-021-02406-9.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsChromosomal microarray analysisExome sequencingConsanguineous populationsFetal anomaliesMicroarray analysisHeterozygous de novo pathogenic variantLoss of function variantsFetal phenotypeParental DNA samplesFetal abnormalitiesDiagnostic yieldMolecular genetic defectMolecular genetic diagnosticsHistory of congenital anomaliesPrenatal exome sequencingVariable diagnostic yieldCiliopathy genesFetal structural anomaliesMolecular genetic abnormalitiesStructural anomaliesCiliopathy disordersCiliopathy syndromesFunctional variantsNovel variantsGenetic diagnosticseP291 Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome
Sheppard S, Campbell I, Harr M, Gold N, Li D, Bjornsson H, Cohen J, Fahrner J, Fatemi A, Harris J, Nowak C, Stevens C, Grand K, Au M, Graham J, Sanchez-Lara P, Del Campo M, Jones M, Abdul-Rahman O, Alkuraya F, Bassetti J, Bergstrom K, Bhoj E, Dugan S, Kaplan J, Derar N, Gripp K, Hauser N, Innes M, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk M, Rahbeeni Z, Ben-Shachar S, Shieh J, Slavotinek A, Sobering A, Abbott M, Allain D, Amlie-Wolf L, Au P, Bedoukian E, Beek G, Barry J, Berg J, Bernstein J, Cytrynbaum C, Chung B, Donoghue S, Dorrani N, Eaton A, Flores-Daboub J, Dubbs H, Felix C, Fong C, Fung J, Gangaram B, Goldstein A, Greenberg R, Ha T, Hersh J, Izumi K, Kallish S, Kravets E, Kwok P, Jobling R, Knight-Johnson A, Kushner J, Lee B, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod D, Mentch F, Minks K, Muraresku C, Nelson S, Porazzi P, Pichurin P, Powell-Hamilton N, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand D, Falk M, Hakonarson H, Zackai E, Quintero-Rivera F. eP291 Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome. Molecular Genetics And Metabolism 2021, 132: s183. DOI: 10.1016/s1096-7192(21)00373-5.Peer-Reviewed Original ResearchExpanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
Sheppard S, Campbell I, Harr M, Gold N, Li D, Bjornsson H, Cohen J, Fahrner J, Fatemi A, Harris J, Nowak C, Stevens C, Grand K, Au M, Graham J, Sanchez‐Lara P, Del Campo M, Jones M, Abdul‐Rahman O, Alkuraya F, Bassetti J, Bergstrom K, Bhoj E, Dugan S, Kaplan J, Derar N, Gripp K, Hauser N, Innes A, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk M, Rahbeeni Z, Ben‐Shachar S, Shieh J, Slavotinek A, Sobering A, Abbott M, Allain D, Amlie‐Wolf L, Au P, Bedoukian E, Beek G, Barry J, Berg J, Bernstein J, Cytrynbaum C, Chung B, Donoghue S, Dorrani N, Eaton A, Flores‐Daboub J, Dubbs H, Felix C, Fong C, Fung J, Gangaram B, Goldstein A, Greenberg R, Ha T, Hersh J, Izumi K, Kallish S, Kravets E, Kwok P, Jobling R, Johnson A, Kushner J, Lee B, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod D, Mentch F, Minks K, Muraresku C, Nelson S, Porazzi P, Pichurin P, Powell‐Hamilton N, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand D, Falk M, Hakonarson H, Zackai E, Quintero‐Rivera F. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome. American Journal Of Medical Genetics Part A 2021, 185: 1649-1665. PMID: 33783954, PMCID: PMC8631250, DOI: 10.1002/ajmg.a.62124.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsIntellectual disabilityWiedemann-Steiner syndromeGenotype-phenotype correlationDevelopmental trajectoriesDevelopmental milestonesClinician's differential diagnosisAssociated with loss of functionLong-term outcomesDiverse cohortAutosomal dominant disorderEthnically diverse cohortAssociated with lossDevelopmental delayDisabilityMedian ageClinical featuresMonoallelic variantsShort statureDifferential diagnosisPhenotypic spectrumHypertrichosis cubitiIndividualsMedical comorbiditiesDominant disorderFeeding difficulties
2020
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
Maddirevula S, Kuwahara H, Ewida N, Shamseldin H, Patel N, Alzahrani F, AlSheddi T, AlObeid E, Alenazi M, Alsaif H, Alqahtani M, AlAli M, Al Ali H, Helaby R, Ibrahim N, Abdulwahab F, Hashem M, Hanna N, Monies D, Derar N, Alsagheir A, Alhashem A, Alsaleem B, Alhebbi H, Wali S, Umarov R, Gao X, Alkuraya F. Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics. Genome Biology 2020, 21: 145. PMID: 32552793, PMCID: PMC7298854, DOI: 10.1186/s13059-020-02053-9.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsWhole-exome sequencingMendelian disordersMendelian diseasesRNA-seqDiagnosis of Mendelian diseasesRNA analysisNon-coding variantsSuspected Mendelian diseasesSuspected Mendelian disordersBlood-derived RNARNA-based diagnosticsWhole-transcriptome sequencingIn silico predictionGenome sequenceRT-PCRMendelian phenotypesTranscriptome sequencingRNA sourceResults of RT-PCRModulate penetranceRNASequenceConclusionsOur resultsVariantsGenome
2018
De novo truncating variants in WHSC1 recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype
Derar N, Al-Hassnan Z, Al-Owain M, Monies D, Abouelhoda M, Meyer B, Moghrabi N, Alkuraya F. De novo truncating variants in WHSC1 recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype. Genetics In Medicine 2018, 21: 185-188. PMID: 29892088, DOI: 10.1038/s41436-018-0014-8.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsDe novo truncating variantsHaploinsufficiency of multiple genesSingle-gene levelMicrodeletion syndromeDisease genesGenomic disordersExome sequencingMultiple genesSingle-geneWHSC1Syndrome phenotypeCore phenotypePhenotypePhenotypic expressionLociWolf-HirschhornGenesPhenotypic componentsMicrodeletionHaploinsufficiencyVariantsMilder variantsHemizygosityConclusionOur studySequence
2016
Characterizing the morbid genome of ciliopathies
Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh M, Alazami A, Hashem M, Ibrahim N, Abdulwahab F, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed M, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih M, Ciliopathy WorkingGroup, Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan C, Parry D, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson C, Alkuraya F. Characterizing the morbid genome of ciliopathies. Genome Biology 2016, 17: 242. PMID: 27894351, PMCID: PMC5126998, DOI: 10.1186/s13059-016-1099-5.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsCombined carrier frequencyLoss of function mutationsGenetically heterogeneous conditionCiliopathy phenotypesGenomic analysisGenomic approachesCiliary signalingCiliopathy genesNovel allelesFounder mutationMendelian inheritanceCiliopathy spectrumMeckel-Gruber syndromeBardet-Biedl syndromePrimary ciliaThiol isomerasesFunction mutationsMolecular basisCiliopathiesMutation loadMutationsMeckel-GruberAffected individualsGenesVariable expression
Academic Achievements & Community Involvement
activity Genetics of Epilepsy: An Overview for Adult Neurologists
Oral PresentationGrand Round, University of ToledoDetails10/01/2023 - 10/01/2023Toledo, OH, United Statesactivity METABOLIC DISORDERS THAT MIMIC ISCHEMIC ENCEPHALOPATHY
Poster PresentationDavid W. Smith WorkshopDetails08/01/2023 - 09/01/2023Boston, MA, United Statesactivity Genetics Referrals: Deciphering the Pathway to Precision Care
Oral PresentationGrand RoundDetails03/01/2023 - 03/01/2023New Haven, CT, United Statesactivity Whole Exome Sequencing As First Tier Test in Fetal Malformation”
Oral PresentationDavid W. Smith WorkshopDetails08/01/2019 - 09/01/2019Salt Lake City, UT, United Statesactivity De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 micro-deletion) syndrome phenotype”
Oral PresentationDavid W. Smith WorkshopDetails08/01/2018 - 09/01/2018Toronto, ON, Canada
Clinical Care
Overview
Clinical Specialties
Clinical Genetics; Medical Biochemical Genetics; Pediatric Genetics; Prenatal Genetics; Medical Oncology; Laboratory Medicine
Fact Sheets
Polycystic Kidney Disease (PKD)
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Board Certifications
Medical Biochemical Genetics
- Certification Organization
- AB of Medical Genetics and Genomics
- Original Certification Date
- 2019
Clinical Genetics and Genomics
- Certification Organization
- AB of Medical Genetics and Genomics
- Original Certification Date
- 2017
Internal Medicine
- Certification Organization
- AB of Internal Medicine
- Original Certification Date
- 2016
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Clinical Genetics Faculty & Staff
333 ceder street , Aprt 1406
New Haven , CT 06519
United States