Nada Derar
Assistant Professor of GeneticsCards
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
Overview
Public Health Interests
Genetics, Genomics, Epigenetics
Publications
2025
5. A rare case of 45X/46XY mosaic Turner syndrome in a neonate
Garg A, Hittelman A, Lepore C, Gujral J, Derar N, Vash-Margita A. 5. A rare case of 45X/46XY mosaic Turner syndrome in a neonate. Journal Of Pediatric And Adolescent Gynecology 2025, 38: 232. DOI: 10.1016/j.jpag.2025.01.038.Peer-Reviewed Original ResearchMosaic Turner syndromeTurner syndromeUrogenital sinusHemi-uterusStreak gonadsMullerian structuresFallopian tubeAmbiguous genitaliaInguinal canalSurgical findingsRare caseLeft inguinal hernia repairLeft inguinal canalRight streak gonadRisk of gonadoblastomaPrenatal cell-free DNAInguinal hernia repairSerum hormone evaluationCell-free DNAWeeks of lifeDysgenetic gonadsInguinal orchiopexySingle cervixDiagnostic laparoscopyUncomplicated pregnancies
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 ResearchConceptsSATB2-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 ResearchConceptsCanonical 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 ResearchConceptsInherited 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 ResearchConceptsChromosomal 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 ResearchConceptsIntellectual 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 ResearchConceptsWhole-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 ResearchConceptsDe novo truncating variantsHaploinsufficiency of multiple genesSingle-gene levelMicrodeletion syndromeDisease genesGenomic disordersExome sequencingMultiple genesSingle-geneWHSC1Syndrome phenotypeCore phenotypePhenotypePhenotypic expressionLociWolf-HirschhornGenesPhenotypic componentsMicrodeletionHaploinsufficiencyVariantsMilder variantsHemizygosityConclusionOur studySequence
Academic Achievements & Community Involvement
Clinical Care
Overview
Nada Derar, MD, is a clinical geneticist specializing in pediatric and prenatal genetics. She is dedicated to diagnosing and treating genetic disorders, helping patients and families understand and manage these conditions.
As an assistant professor of genetics at Yale School of Medicine, Dr. Derar focuses on translating advances in genetics into practical approaches for patient care. “I am particularly passionate about diagnosing rare disorders and helping patients navigate their health care journeys,” she says. “I was drawn to this specialty because of the uniqueness of genetic disorders, which presents both challenges and opportunities in diagnosis and patient care.”
Dr. Derar completed her medical training at Umm Al Qura University in Saudi Arabia and a residency in internal medicine at the University of Toledo. She pursued fellowships in clinical genetics and medical biochemical genetics at Stanford University, and in laboratory genetics and genomics at Yale School of Medicine.
Clinical Specialties
Clinical Genetics; Medical Biochemical Genetics; Pediatric Genetics; Prenatal Genetics; Medical Oncology; Laboratory Medicine
Fact Sheets
Polycystic Kidney Disease (PKD)
Learn More on Yale Medicine
Get In Touch
Contacts
Email
Academic Office Number
Appointment Number
Mailing Address
Clinical Genetics Faculty & Staff
333 ceder street , Aprt 1406
New Haven , CT 06519
United States