15405-Lah, Melissa

Melissa D. Lah, MD

Associate Professor of Clinical Medical & Molecular Genetics

Associate Professor of Clinical Pediatric

Email
mspurr@iu.edu
Phone
(317) 944-3966
Address
IB 150
MMGE
IN
Indianapolis, IN
PubMed:

Bio

Dr. Lah is a proud graduate from the University of Notre Dame.  She received her M.D. degree from Indiana University School of Medicine (IUSM) in 2007 and then completed a pediatric residency in 2010 and a medical genetics residency in 2012 at IUSM.  She has worked at IUSM/IUH since 2012. 
 
Dr. Lah is board certified by the American Board of Medical Genetics and Genomics as well as the American Board of Pediatrics. She is active on campus and serves as the faculty advisor for the Office of Medical Service Learning, and was previously the faculty advisor for IUPUI/IUSM Best Buddies chapter, past president of the Indiana University School of Medicine Alumni Board of Directors, and founder of the Indiana University School of Medicine Alumni Young Professionals Group.  Dr. Lah also served as a board member and secretary for Best Buddies Indiana and is the founding member of the Indiana Best Buddies Young Professionals Council.  She is a member of many medical societies including the American Academy of Pediatrics, American College of Medical Genetics and Genomics, Society for Inherited Metabolic Disease and American Society of Human Genetics.  Dr. Lah serves as a member on the Indiana State Board of Health Perinatal Genetics and Genomics Advisory Committee.
 
Her primary interests include clinical genetics and dysmorphology, birth defects and inborn errors of metabolism.  In addition to her clinical activities, Dr. Lah is the program director for the Clinical Genetics Residency program and the Pediatric-Genetics Residency program. 
 
She is an educator of medical students, residents and graduate students.  Dr. Lah is passionate about advancing the care and treatment of genetic and metabolic conditions and serves as the primary investigator for clinical trials and registries in the Department of Medical and Molecular Genetics.  Current and past clinical trials and registries for which she has been involved have been for a range of diagnoses including PKU, Prader-Willi syndrome, homocystinuria, thymidine kinase 2 deficiency, Pompe disease, and propionic acidemia.  She serves as an expert international clinical advisor for PKU and Palynziq.   
 

Key Publications

Korstanje R, Desai J, Lazar G, King B, Rollins J, Spurr M, Joseph J, Kadambi S, Li Y, Cherry A, Matteson PG, Paigen B, Millonig JH.  2008.  Quantitative trait loci affecting phenotypic variation in the vacuolated lens mouse mutant, a multigenic mouse model of neural tube defects. Physiol. Genomics 35: 296-304.

Jackson J, Delk P, Farrow E, Griffith C, Lah M, Weaver DD.  2015.  An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: a previously undescribed syndrome? Am J Med Genet Part A 167A: 683-687.

Lah M, Niranjan T, Srikanth S, Holloway L, Schwartz CE, Wang T and Weaver DD.   2016.  A Distinct X-linked Syndrome Involving Joint Contractures, Keloids, Large Optic Cup-to-disc Ratio and Renal Stones Results from a Filamin A (FLNA) Mutation.  Am J Med Genet Part A 170:881-890  

Goedde LN, Stupiansky NW, Lah M, Quaid KA, Cohen S.  2017.  Cancer Genetic Counselors' Current Practices and Attitudes Related to the Use of Tumor Profiling.  J Genet Counsel 26(4):878-886.

Armstrong MD, Weaver DD, Lah MD, Vance GH, Ware SM, Helm BM.  2018.  Novel Phenotype of 5p13.3q11.2 Duplication Resulting from Supernumerary Marker Chromosome 5: Implications for Management and Genetic Counseling.  Mol Cytogenet 11(1), [23]. DOI: 10.1186/s13039-018-0372-6 

Bari BO, Skillman S, Lah MD, Haggstrom AN.  2018.  Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy.  Pediatr Dermatol 35(4):e218-e220.  doi: 10.1111/pde.13498, ISBN/ISSN: 0736-8046 

McPheron M, Lah M.  2019.  Survival of a male infant with ornithine transcarbamylase deficiency due to a familial contiguous Xp11.4 deletion.  JIMD Rep 45:83-87. doi: 10.1007/8904_2018_145 †   

Feldman HR, Dlouhy SR, Lah MD, Payne KK, Weaver DD.  2019.  The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene.  Am J Med Genet Part A 179(2):300-305.  doi: 10.1002/ajmg.a.60698, ISBN/ISSN: 1552-4825 

Carlotti K, Hines K, Weida J, Lah M, Schwantes-An TH.  2021.  Perceived barriers to paternal expanded carrier screening following a positive maternal result: To screen or not to screen.  J Genet Counsel 30(2):470-477.  doi: 10.1002/jgc4.1333
 
Lah M, McPheron M.  2021. Palynziq clinic: One year and 43 patients later.  Mol Genet Metab.  133(3):250-256.  doi: 10.1016/j.ymgme.2021.05.006.

Adams D, Andersson HC, Bausell H, Crivelly K, Eggerding C, Lah M, Lilienstein J, Lindstrom K, McNutt M, Ray JW, Saavedra H, Sacharow S, Starin D, Tiffany-Amaro J, Thomas J, Vucko E, Wessenberg LB, Whitehall K.  Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics.  2021.  Mol. Genet. Metab. Rep 28 (2021) 100790. doi: 10.1016/j.ymgmr.2021.100790

Allison C, Prucka S, Fizgerald-Butt S, Helm B, Lah M, Wetherill L, Baud R.  2022.  Comparison of Willingness and Preference for Genetic Counseling Via Telemedicine: Before vs During the COVID-19 Pandemic.  J. Community Genet. 13(4):1-10.  doi: 10.1007/s12687-022-00598-9 

Lah M, Cook K, Gomes A, Liu S, Tabatabaeepour N, Kirson N, Chen E, Lindstrom K, Bulloch Whitehall K, Van Backle J, Burton B.  2022.  Real-word treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data.  Mol. Genet. Metab. Rep.  33(2):100918.  doi: 10.1016/j.ymgmr.2022.100918

Miller JL, Gevers E, Bridges N, Yanovski JA, Salehi P, Obrynba KS, Felner EI, Bird LM, Shoemaker AH, Angulo M, Butler MG, Stevenson D, Abuzzahab J, Barrett T, Lah M, Littlejohn E, Mathew V, Cowen NM.  2023.  Diazoxide Choline Extended-Release Tablet in People with Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial.  J. Clin. Endocrinol. Metab.  108(7):1676-1685.  doi:10.1210/clinem/dgad014
 
Sundstrom R, Wetherill L, Sapp K, McPheron M, Lah M.  2023.  Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health.  J. Community Genet.  14(6): 627–638. doi: 10.1007/s12687-023-00667-7

Miller JL, Gevers E, Bridges N, Yanovski JA, Salehi P, Obrynba KS, Felner EI, Bird LM, Shoemaker AH, Angulo M, Butler MG, Stevenson D, Goldstone AP, Wilding J, Lah M, Shaikh MG, Littlejohn E, Abuzzahab MJ, Fleischman A, Hirano P, Yen K, Cowen NM, Bhatnagar A.  2024.  Diazoxide Choline Extended-Release Tablet in People with Prader-Willi Syndrome: Results from Long-Term Open-Label Study.  Obesity.  32(2):252-261.  doi: 10.1002/oby.23928

Bier C, Dickey K, Bibb B, Crutcher A, Sponberg R, Chang R, Boyer M, Davis-Keppen L, Matthes C, Tharp M, Vice D, Cooney E, Morand M, Ray J, Lah M, McNutt M, Andersson HC.  2024.  Outcomes In 14 Live Births Resulting From Pegvaliase-Treated Pregnancies In PKU-Affected Females.  Mol. Genet. Metab. 141(3):108152. doi: 10.1016/j.ymgme.2024.108152

*Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, del Campo M, Basel D, McCarrier J, Keppen LD, Royer D, Foster-Bonds R, Duenas- Roque MM,  Urraca N, Bosfield K, Brown CW, Lydigsen J, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E,  Vaux K, Peña Salguero H, Lumaka Zola A, Mubungu G, Makay P, Ngole M, Lukusa P, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Henry D, Gibson K, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ.  2024.  The impact of clinical genome sequencing in a global population with suspected rare genetic disease.  AJHG.  111(7):1271-1281. doi: 10.1016/j.ajhg.2024.05.006.
 
Muntau AC, Longo N, Ezgu F, Schwartz IVD, Lah M, Bratkovic D, Margvelashvili L, Kiykim E, Zori R, Plana JC, Bélanger-Quintana A, Lund A, Guilder L, Chakrapani A, Mungan HN, Guimas A, Del Carmen Cabrales Guerra I, MacDonald A, Ingalls K, Smith N; APHENITY study group.  2024.  Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial.  Lancet.  404(10460):1333-1345. doi: 10.1016/S0140-6736(24)01556-3 

Helm BM, Helvaty LR, Conboy E, Geddes GC, Graham BH, Lah M, Wetherill L, Landis BJ, Ware SM.  2024.  Performance of Dysmorphology-Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing.  Mol Genet Genomic Med. 12(11):e70040.  doi: 10.1002/mgg3.70040.

Cooney E, Ammous Z, Bender T, Clague GE, Clifford M, Crutcher A, Davis-Keppen L, Havens K, Lah M, Sacharow S, Sanchez-Valle Aj, Vucko E, Wardley B, Wessenberg L, Andersson HC.  2024.  Lessons learned from 5 years of pegvaliase in US clinics: A case series.  MGM Reports.  42:101181.  doi.org/10.1016/j.ymgmr.2024.101181.

Ficicioglu C, Thomas JA, Ganesh J, Kudrow D, Lah M, Smith WE, Güner J, McDermott S,Vaidya SA, Wilkening L, Levy HL. 2025.  Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE® phase 1/2 randomized trial.  GIM.  27(8): 101456.  doi.org/ 10.1016/j.gim.2025.101456

For a full list of Dr. Lah's publications, click here. 

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