Laurie S. Sadler MD, FACMG
Laurie S. Sadler
MD, FACMG
Clinical Associate Professor
Jacobs School of Medicine & Biomedical Sciences
Specialty/Research Focus
Clinical Genetics; Clinical Molecular Genetics; Dysmorphology; Pediatric Genetics; Pediatrics
Contact Information
Patient Care
Patient Care
This faculty member is affiliated with UBMD, practicing physicians who are also professors in the Jacobs School.
View this physician on UBMDProfessional Summary:
I specialize in the evaluation of children and adults with birth defects, developmental disability, autism and genetic disorders and syndromes. My goal as a dysmorphologist/clinical geneticist is to make specific overall diagnoses in order to provide patients and their families with information regarding prognosis and recurrence risks, i.e., the likelihood that a trait or disorder present in one family member will occur again in other family members. In addition, I help coordinate patient care in conjunction with patients’ primary care physicians and other specialists. I also work closely with genetic counselors who evaluate patients for a variety of concerns and help to coordinate genetic diagnostic testing as indicated.
As a UBMD physician working at the John R. Oishei Children‘s Hospital, I direct the Williams Syndrome program and serve as a Clinical Co-Director of the Craniofacial Center of Western New York. The Craniofacial Center provides comprehensive, interdisciplinary evaluation and management of individuals from birth through adulthood with congenital and acquired craniofacial abnormalities. Common diagnoses include clefts of the lip and/or palate, craniosynostosis, and ear anomalies. We hold monthly conferences that focus both on teaching and collaboration amongst providers in an effort to optimize patient care.
My particular interest in the care of individuals with Williams Syndrome led me to start a multidisciplinary Williams Syndrome clinic in 1994, which was one of only twelve such clinics in the country. While our providers no longer see patients in a single clinic visit, we continue to offer expertise for children and adults with this disorder. Patients are initially evaluated in genetics, at which time individualized care plans are devised. Subsequent evaluations with genetic counselors, cardiologists, pediatric psychiatrists, nephrologists, endocrinologists, ophthalmologists, audiologists, and/or neuropsychologists are arranged, depending on individual patient needs. I have coordinated a number of research studies in this patient population, and have published a number of articles in this field.
As a UB faculty member, I also teach genetics to first year medical students as well as residents and medical students during their month-long genetics elective.
Education and Training:
- Fellowship, Dysmorphology/Clinical Genetics, University at Buffalo (1992)
- Residency, Pediatrics, University at Buffalo (1989)
- Internship, Pediatrics, University at Buffalo (1987)
- MD, Medicine, University at Buffalo, Summa Cum Laude (1986)
- BS, Psychology and Speech and Hearing Sciences, University of Michigan (1981)
Employment:
- Director, Oishei Children's, Williams Syndrome Program (1994-present)
- Clinical Associate Professor, Pediatrics, University at Buffalo Jacobs School of Medicine & Biomedical Sciences (2001-present)
- Associate Clinical Director, Genetics, Oishei Children's Hospital (1992-present)
- Attending Physician, Genetics, Oishei Children's Hospital (1992-present)
- Clinical Co-Director, Oishei Children's Hospital, Craniofacial Center of Western New York (1992-present)
- Clinical Assistant Professor, Pediatrics, University at Buffalo Jacobs School of Medicine & Biomedical Sciences (1992–2001)
Awards and Honors:
- Buffalo Spree Magazine: Top Doctors (2023)
Research Expertise:
- Craniofacial Disorders
- Dysmorphology
- Williams Syndrome: Diagnosis, evaluation, treatment, and family support
Grants and Sponsored Research:
- June 2021
ACHieve: A multicenter, longitudinal, observational study of children with achondroplasia to assess growth velocity and body proportion over time
Ascendis
Role: Co-Investigator - January 2021
Accomplish: A phase 2 multicenter, double-blind, randomized, placebo-controlled, dose escalation trial evaluating safety, efficacy, and pharmacokinetics of subcutaneous doses of TransCon CNP administered qweek for 12 months in prepubertal children with achondroplasia
Acendis
Role: Co-Investigator
Journal Articles:
- Recker MJ, Kronenwetter N, Reynolds RM, Sadler LS, Markiewicz MR. (2022) Impaired wound healing following cranial vault reconstruction in a patient with an atypical phenotype of Marfan syndrome: A case report. Surgical neurology international (Jan), 13: 328. doi:10.25259/SNI_329_2022
- Weinstock NI, Sadler L. (2021) The RRAS2 pathogenic variant p.Q72L produces severe Noonan syndrome with hydrocephalus: A case report. American journal of medical genetics. Part A (Oct).
- Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler LS, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Minaur S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL. (2019) Mutation update for the SATB2 gene. Hum Mutat (Aug), 40(8): 1013-1029.
- Hoffman S, Sadler LS, Totman T, Bagne L. (2019) A Possible case of Facio-Auriculo-Vertebral sequence (FAVs) in an adult female from medieval Iceland (13th-16th Century). Int J Paleopathol (Mar), 24: 41-47.
- Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thevenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carre W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler LS, Neupauerova J, Lassuthova P, Sterbova K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C. (2018) HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. Brain (Nov), 141(11): 3160-3178.
- Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, Prasad C, Sadler LS, Nava C, Mullen TE, Begtrup A, Baskin B, Powis Z, Shaaq A, Keren B, Moldovan GL, Elpeleg O. (2017) Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. Am J Hum Genet (Aug), 101(2): 267-273.
- Alex L, Sadler LS, Xu H, Anain SA, Helm TN. (2015) Lip pits: An uncommon clinical and histologic finding associated with underlying genodermatoses and developmental anomalies. N A J Med Sci (Apr), 8(2): 87-88.
- Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH. (2009) Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet (Mar), 84(3): 307-315.
- Kennedy JC, Kaye DL, Sadler LS. (2006) Psychiatric diagnoses in patients with Williams syndrome and their families. Jeff J Psychiatry (Dec), 20(1): 22-31.
- Johnson JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham Jr JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RCM, Holmes LB, Hoyme HE, Leppig KA, Lin AE, MacLeod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Sadler L. (2005) Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (Apr), 76(4): 609-622.
- Huang L, Sadler L, O‘Riordan MA, Robin NH. (2002) Delay in diagnosis of Williams syndrome. Clin Pediatr (May), 41(4): 257-261.
- Sadler L, Pober BR, Grandinetti A, Scheiber D, Fekete G, Sharma A, Urban Z. (2001) Differences by sex in cardiovascular disease in Williams syndrome. J Pediatr (Dec), 139(6): 849-853.
- Cherniske EM, Sadler L, Schwartz D, Carpenter TO, Pober BR. (1999) Early puberty in Williams syndrome. Clin Dysmorphol (Apr), 8(2): 117-121.
- Sadler L, Gingell R, Martin DJ. (1998) Carotid ultrasound examination in the Williams syndrome. J Pediatr (Feb), 132(2): 354-356.
- Olitsky SE, Sadler LS, Reynolds JD. (1997) Subnormal binocular vision in the Williams syndrome. J Pediatr Ophthalmol Strabismus (Jan), 34(1): 58-60.
- Sadler L, Olitsky SE, Reynolds JD. (1996) Reduced stereoacuity in the Williams syndrome. Am J Med Genet (Jan), 66(3): 287-288.
- Sadler LS, Robinson LK, Msall ME. (1995) Diabetic embryopathy: possible pathogenesis. Am J Med Genet (Jan), 55(3): 363-366.
- Sadler L, Robinson LK, Verdaasdonk KR, Gingell R. (1993) The Williams syndrome: evidence for possible autosomal dominant inheritance. Am J Med Genet (Sep), 47(4): 468-470.
- Sadler LS, Robinson LK. (1993) Chorioretinal dysplasia-microcephaly-mental retardation syndrome: report of an American family. Am J Med Genet (Aug), 47(1): 65-68.
Books and Book Chapters:
- Sadler LS, Stapleton FB. (1996) In: "Disorders of Porphyrin, Purine, and Pyrimidine Metabolism". W.B. Saunders, 374-376.
- Robinson LK, Sadler LS. (1995) In: "Drug Induced Anomalies". W.B. Saunders, 615-619.
- Robinson LK, Sadler LS. (1991) In: "Genetic Diagnosis: The Dysmorphology Examination". Mosby Yearbook, 10-20.
Professional Memberships:
- American College of Medical Genetics: Fellow (FACMG) (2013–present)
- Williams Syndrome Association (1994–present)
Presentations:
- "Back to Basics: Diagnosis of Lesch-Nyhan Syndrome in a Female via Karyotypic Analysis" American College of Medical Genetics Annual Clinical Genetics Meeting (2024)
- "Isolated Ocular Findings and Developmental Delay in a Family with a KIF4A Variant of Uncertain Significance" American College of Medical Genetics Annual Clinical Genetics Meeting (2024)
- "Progressive Postnatal Pansynostosis: A Diagnostic Challenge" 43rd Annual David W. Smith Workshop on Malformations and Morphogenesis, David W. Smith Society (2022)
- "Requests for Coverage of Genetic Tests Grow Dramatically" Media Interview and Feature; Buffalo Business First (2019)
- "Clinical Application of Current Genetic Technologies" Pediatric Grand Rounds; University at Buffalo (2019)
- "KIF5C Mutations Cause Severe Intellectual Disability with or without Cortical Brain Malformations" 36th Annual David W. Smith Workshop on Malformations and Morphogenesis; David W. Smith Society (2015)
- "The Diagnostic Odyssey: Changing Genetic Technologies" Pediatric Grand Rounds; University at Buffalo (2014)
- "Uniparental Isodisomy for Chromosome 1 in a Patient with Noonan Syndrome Phenotype" 34th Annual David W. Smith Workshop on Malformations and Morphogenesis; David W. Smith Society (2013)
- "Beyond Morphology: The Importance of Behavioral Phenotypes" Pediatric Grand Rounds; University at Buffalo (2012)
- "22q11 Deletion: Knowing What to Look for" Pediatric Grand Rounds; University at Buffalo (2011)
- "Carotid Arterial Dissection in an Adult with Williams Syndrome" 32nd Annual David W. Smith Workshop on Malformations and Morphogenesis; David W. Smith Society (2011)
- "Duplication and Deletion in a Single Family" 30th Annual David W. Smith Workshop on Malformations and Morphogenesis; David W. Smith Society (2009)
- "Chromosomal Microarray Analysis: Taking a Second Look" Pediatric Grand Rounds; University at Buffalo (2008)
- "Normal Morphology and Autistic Spectrum Disorder in Mosaic Monosomy 21" 15th Annual Clinical Genetics Meeting; American College of Medical Genetics (2008)
- "Mood and Anxiety Disorders in Patients with Williams Syndrome and Their Families" Annual Meeting; American Academy of Child and Adolescent Psychiatry (2005)
- "Mood and Anxiety Disorders in Patients with Williams Syndrome and Their Families" 26th Annual David W. Smith Workshop on Malformations and Morphogenesis; David W. Smith Society (2005)
- "Mood and Anxiety Disorders in Patients with Williams Syndrome and Their Families" Annual Convention; American Medical Student Association (2005)
- "Severe Mandibuloacral Dysplasia" 23rd Annual David W. Smith Workshop on Malformations and Morphogenesis; David W. Smith Society (2002)
- "Gender Differences in Cardivascular Disease in Williams Syndrome" 21st Annual David W. Smith Workshop on Malformations and Morphogenesis; David W. Smith Society (2000)
- "Community Integration in Williams Syndrome" 8th International Professional Conference on Williams Syndrome; Williams Syndrome Association (2000)
- "Carotid Ultrasound Examination in the Williams Syndrome" 17th Annual David W. Smith Workshop on Malformations and Morphogenesis; David W. Smith Society (1996)
- "Carotid Ultrasound Examination in the Williams Syndrome" 7th International Professional Conference on Williams Syndrome; Williams Syndrome Association (1996)
- "Subnormal Binocular Vision in the Williams Syndrome" 45th Annual Meeting; American Society of Human Genetics (1995)
- "Fetus-in-fetu: An Included Heteropagus Conjoined Twin" 16th Annual David W. Smith Workshop on Malformations and Morphogenesis; David W. Smith Society (1995)
- "Subnormal Binocular Vision in the Williams Syndrome" Eastern Regional Orthoptic Meeting; American Association of Certified Orthoptists (1995)
- "Anencephaly and Laterality: A Preliminary Report" 15th Annual David W. Smith Workshop on Malformations and Morphogenesis; David W. Smith Society (1994)
- "Collagen Analysis in a Case of the Hallerman-Streiff Syndrome: Insight into Possible Pathogenesis" 15th Annual David W. Smith Workshop on Malformations and Morphogenesis; David W. Smith Society (1994)
- "The Body Stalk Anomaly: Report of a Case, Review of the Literature, Speculation on Development Pathogenesis" 14th Annual David W. Smith Workshop on Malformations and Morphogenesis; David W. Smith Society (1993)
- "Ear Length in African-American Newborns with and without the Down Syndrome" 13th Annual David W. Smith Workshop on Malformations and Morphogenesis; David W. Smith Society (1992)
- "The Chorioretinal Dysplasia-microcephaly-mental Retardation Syndrome: Report of an American Family" 13th Annual David W. Smith Workshop on Malformations and Morphogenesis; David W. Smith Society (1992)
- "Distal Digital Hypoplasia in the Fetal Alcohol Syndrome" 5th Annual Conference; Organization of Teratogen Information Services (1992)
- "Further Evidence of the Mesodermal Pathogenesis of the Diabetic Embryopathy" 12th Annual David W. Smith Workshop on Malformations and Morphogenesis; David W. Smith Society (1991)
- "Laterality Defects and Myelodysplasia: Implications for Body Asymmetry" 12th Annual David W. Smith Workshop on Malformations and Morphogenesis; David W. Smith Society (1991)
Service Activities:
- University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Pediatric Resident Recruitment Committee; Interviewer (2021)
- Partnership2Gether, Buffalo Jewish Federation; Committee Chairman (2021–present)
- Buffalo Jewish Federation; Board of Governors (2018–present)
- University at Buffalo: Faculty Senate; Member (2013–2015)
- University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Search Committee for Department Chair of Psychiatry; Committee Member (2004)
- University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Faculty Council; Member (1993–1995)
- University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Incoming Resident Orientation Committee; Committee Member (1991–1993)
- American Journal of Medical Genetics; Reviewer