Seema Lalani, M.D.

Professor

(713) 798-8921

Email

seemal@bcm.edu

Positions

Professor: Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, US

Assistant Laboratory Director: Cytogenetics Laboratory
Baylor Genetics

Education

MD from Aga Khan University Medical College: 01/1994 - Karachi, Pakistan

Residency at Milton S Hershey Medical Center: 01/1996 - Hershey, Pennsylvania, United States; Pediatrics

Clinical Fellowship at Baylor College Of Medicine: 01/1999 - Houston, TX, United States; Medical Genetics

Clinical Fellowship at Baylor College Of Medicine: 01/2004 - Houston, Texas, United States; Clinical Cytogenetics

Certifications

General Pediatrics: American Board of Pediatrics

Clinical Genetics: American Board of Medical Genetics

Clinical Cytogenetics: American Board of Medical Genetics

Professional Interests

Copy number variations and diseases, congenital cardiovascular malformations, genetic causes of language/speech delay

Professional Statement

My work has focused on understanding the molecular basis of neurodevelopmental disorders in the pediatric population. We have used diagnostic tools such as exome and genome sequencing in understanding the genetic basis of birth defects. I have been involved with the Undiagnosed Diseases Network (UDN) study at Baylor College of Medicine for several years and helped characterize diagnoses in multiple undiagnosed children with rare diseases. In 2016, we described the first cohort of patients with TANGO2 deficiency disorder (TDD) and are leading the international natural history study. In 2022, we started Project GIVE, an NIH study to reduce genomic health disparities in the Hispanic children living in the Rio Grande Valley and El Paso in Texas. We are using an academic web-based virtual platform called Consultagene to combine virtual health delivery with genome sequencing in this pediatric population living along the Texas-Mexico border. In 2024, we were funded by the NHGRI to provide rapid genome sequencing to critically ill newborns in Texas, using Consultagene to improve access to genomic care.

Websites

Genetics Clinics

Baylor Genetics

Department of Molecular and Human Genetics

Selected Publications

Vuocolo B, Sierra R, Brooks D, Holder C, Urbanski L, (...), Lee B, Lalani SR. " Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas " J Neurodev Disord.. 2024 Sep 9; 16 : 52.
Pubmed PMID: 39251895.
Miyake CY, Lay EJ, Soler-Alfonso C, Glinton KE, Houck KM, (...), Lalani SR. " Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients. " Genet Med. 2023 Apr ; 25 : 100352.
Pubmed PMID: 36473599.
Coban-Akdemir ZH, Charng WL, Azamian M, Paine IS, Punetha J, Grochowski CM, (...), Lupski JR, Lalani SR. " Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation " Am J Med Genet A. 2020 Jun ; 182 (6) : 1387-1399.
Pubmed PMID: 32233023.
Lalani SR. " Other genomic disorders and congenital heart disease " Am J Med Genet C Semin Med Genet. 2020 Mar ; 184 (1) : 107-115.
Pubmed PMID: 31909881.
Lalani SR, Graham B, Burrage L, Lai YC, Scaglia F, Soler-Alfonso C, Miyake CY, Yang Y. " TANGO2-Related Metabolic Encephalopathy and Arrhythmias " GeneReviews®. 2018 Jan 25;
Pubmed PMID: 29369572.
Meng L, Pammi M, Saronwala A, Magoulas P, (...), Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. " Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.. " JAMA Pediatr.. 2017 ; 171 : e173438.
Lalani SR, Liu P, Rosenfeld JA, Watkin LB, (...), Yang Y. " Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.. " Am J Hum Genet.. 2016 ; 98 : 347-57.
Burrage LC, Charng WL, Eldomery MK, (...), Lalani SR, Lupski JR, Bongers EM, Yang Y. " De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.. " Am J Hum Genet.. 2015 ; 97 : 904-13.
Probst FJ, James RA, Burrage LC, Rosenfeld JA, Bohan TP, Ward Melver CH, Magoulas P, Austin E, Franklin AI, Azamian M, Xia F, Patel A, Bi W, Bacino C, Belmont JW, Ware SM, Shaw C, Cheung SW, Lalani SR. " De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. " Orphanet J Rare Dis.. 2015 Jun 14; 10 : 75.
Pubmed PMID: 26070612.
Szafranski P, Von Allmen GK, Graham BH, Wilfong AA, Kang SH, Ferreira JA, Upton SJ, Moeschler JB, Bi W, Rosenfeld JA, Shaffer LG, Wai Cheung S, Stankiewicz P, Lalani SR. " 6q22.1 microdeletion and susceptibility to pediatric epilepsy " Eur J Hum Genet. 2015 Feb ; 23 : 173-9.
Pubmed PMID: 24824130.
Parrott A, James J, Goldenberg P, Hinton RB, Miller E, Shikany A, Aylsworth AS, Kaiser-Rogers K, Ferns SJ, Lalani SR, Ware SM. " Aortopathy in the 7q11.23 microduplication syndrome " Am J Med Genet A. 2015 Feb ; 167 : 363-70.
Pubmed PMID: 25428557.
Lalani SR, Belmont JW. " Genetic basis of congenital cardiovascular malformations " Eur J Med Genet. 2014 Aug ; 57 (8) : 402-13.
Pubmed PMID: 24793338.
Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, ..., Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. " Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome " Am J Hum Genet. 2014 Nov 6; 95 : 579-83.
Pubmed PMID: 25439098.
Lalani SR, Ware SM, Wang X, Zapata G, ..., Fernbach SD, Potocki L, Belmont JW. " MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. " Hum Mol Genet.. 2013 1; 22 (21) : 4339-48.
Pubmed PMID: 23773997.
Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, (.....), Lalani SR. " TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities " Am J Hum Genet.. 2013 Aug 8; 93 (2) : 197-210.
Pubmed PMID: 23810381.
Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, Lupski JR, Stankiewicz P, Bacino CA, Dawson B, Beaudet AL, Boricha FM, Whittaker R, Li C, Ware SM, Cheung. " Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. " Eur. J. Hum. Genet.. 2013 Feb ; 21 (2) : 173-81.
Pubmed PMID: 22929023.
Lalani SR, Hefner MA, Belmont JW, Davenport SLH. " CHARGE Syndrome " In: Pagon RA, Adam MP, Ardinger HH, Wallace S. 2012 Feb 2;
Pubmed PMID: 20301296.
Liu P, Erez A, Nagamani SC, Dhar SU, Kolodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Hernández-Almaguer D, Immken L, Lalani SR, McLean SD, Nort. " Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. " Cell. 2011 Sep 16; 146 (6) : 889-903.
Pubmed PMID: 21925314.
Layman WS, McEwen DP, Beyer LA, Lalani SR, Fernbach SD, Oh E, Swaroop A, Hegg CC, Raphael Y, Martens JR, Martin DM. " Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. " Hum. Mol. Genet.. 2009 Jun 1; 18 (11) : 1909-23.
Pubmed PMID: 19279158.
Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansman. " 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. " J. Med. Genet.. 2009 Mar ; 46 (3) : 168-75.
Pubmed PMID: 18812404.
Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Ge. " Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. " Nat. Genet.. 2008 Dec ; 40 (12) : 1466-71.
Pubmed PMID: 19029900.
Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW. " Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. " Am. J. Hum. Genet.. 2006 Feb ; 78 (2) : 303-14.
Pubmed PMID: 16400610.

Memberships

Society of Pediatric Research: Member

American Society of Human Genetics: Member