Merlin G. Butler

Merlin G. Butler is an American physician scientist and professor at the University of Kansas Medical Center's Departments of Psychiatry & Behavioral Sciences and Pediatrics.[1] He is American Board of Medical Genetics (ABMG)  board-certified in Clinical Genetics and Clinical Cytogenetics and inducted into the American College of Medical Genetics and Genomics in 1993 as a founding fellow.[2] He has over 550 publications in peer-reviewed journals, numerous book chapters and several authored and edited textbooks on genetics, developmental disabilities, autism, genetics of syndromic and non-syndromic conditions, career milestones, pediatric diseases and management of rare genetic disorders, specifically Prader-Willi syndrome.[3]

Early life and research

Merlin G. Butler was born in the sandhills of Nebraska in 1952. After graduating from high school from Stuart, Nebraska, he attended Chadron State College in Nebraska, where he studied biology and earned a Bachelor of Arts in education in 1974 and a Bachelor of Science with a Biology- Pre-Medicine major in 1975. Butler earned his M.D. in 1978 from the University of Nebraska–Lincoln and a Ph.D. in Medical Genetics in 1984 from Indiana University. Between 1980 and 1984, he completed an American Board of Medical Genetics-accredited fellowship in Medical Genetics in Indiana and was named a Diplomate of the American Board of Medical Genetics in 1984.[4][5][6] He has held several career roles in academic medicine at major academic medical centers as a physician and scientist in diagnosing and managing patients with rare genetic disorders and counseling patients and family members, supervising cytogenetic testing laboratories for diagnosis and care and conducting genetic-based research on rare genetic disorders including Prader-Willi, Angelman, fragile X, Burnside-Butler and Ehlers-Danlos syndromes along with rare chromosomal microdeletion disorders and personalized medicine (pharmacogenetics).[1]

Career

Butler has undertaken the diagnosis, counseling, care and treatment of thousands of patients presenting for genetic services in the clinical setting as well as directing genetics testing laboratories and clinical trials for rare genetic disorders.[7] He has held funded external research including from the National Institute of Health on genetic and cytogenetic disorders for genetic-phenotype correlations and natural history including Prader-Willi syndrome (PWS), the first recognized human disorder with morbid obesity and errors in genomic imprinting which he characterized and now considered the leading international expert.[8][9][10][11]

Butler has also undertaken the study of Angelman, a sister syndrome to Prader-Willi syndrome, as well as fragile X and Burnside- Butler syndromes are considered as recognized genetic causes of autism.[12][13][14] These studies have been focused areas of research through his career expanding more than 50 years. Besides the study of the genetics, natural history and clinical delineation of rare syndromes, autism and obesity, he has also invested time in the characterization and treatment of genetic illnesses including the use of pharmacogenetics for the selection of medications to treat disorders based on the patient's DNA patterns that influences medication use, metabolism and treatment success.[15]

Butler was a tenured Associate Professor of Pediatrics and Pathology at Vanderbilt University in Nashville, Tennessee from 1984 to 1998. In 1998 he was appointed Section Chief and an Endowed Chair recipient of Molecular Medicine at Children's Mercy Hospital and Professor at University of Missouri-Kansas City until 2008.

In 2008, he was appointed Professor of Psychiatry & Behavioral Sciences and Pediatrics at the University of Kansas Medical Center and became the Director of the Division of Research and Genetics and Director of the Genetics Clinic. He became Professor Emeritus in 2022 and continues part-time employment.[2]

He served as chair of the Scientific Advisory Board of the Prader-Willi Syndrome Association of the United States of America for 25 years, where he received the 2008 Lifetime Achievement Award. In addition, he was a 1986 recipient of the Distinguished Service Award from Chadron State College in Chadron, Nebraska and 2007 recipient of Indiana University's Distinguished Alumni Award.[16]

He received the University of Kansas Chancellor’s Research Club Award in 2016, Kansas City Top Doctors Award in 2015-2022; Best Doctors in American, the Nelson Lifetime Achievement Award in 2015-2021 by Marquis Who’s Who in America Award in 2021 and the 2021 Gregor Mendel Genetics Award. He also received the Pioneer Award from the Prader-Willi Syndrome Association (PWS|USA) in 2025 for his contributions in diagnosing and treating those affected with this genetic disorder and the study of PWS for a span of 50 years. [2]

Awards

Butler has received recognition for his contributions to medical genetics and genetic testing for rare disorders, particularly his pioneering work on genomic imprinting and Prader–Willi syndrome. He was elected a Founding Fellow of the American College of Medical Genetics and Genomics (ACMG) in 1993 in recognition of his professional achievements in clinical genetics.[2]

He received the Distinguished Service Award from Chadron State College in 1986[17] and was honored with the Indiana University Distinguished Alumni Award in 2007 for his accomplishments in medical genetics and biomedical research.[18] Numerous other awards and achievements are noted including a two-volume book set dedicated to his research accomplishments on the Career Milestones of a Medical Geneticist from 1978-2023[19] and A Commemorative Issue in Honor of Professor Merlin G. Butler’s Retirement (Unlocking Genetic Mysteries) 2025.[20]

For his longstanding service to the Prader–Willi syndrome community, Butler received the Lifetime Achievement Award from the Prader-Willi Syndrome Association (USA) in 2008 after serving for approximately twenty-five years as chair of the association's Scientific Advisory Board.[21] He later received the organization's Distinguished Service Award in 2019, recognizing his decades of research, clinical leadership, and advocacy for individuals with Prader–Willi syndrome and their families. [22]

Research

Throughout his career, Butler has focused on the principles of medical genetics, clinical genetics and cytogenetics with development of genetic testing options and approaches. His work was instrumental or utilized in the field of genomic imprinting for human disorders and genetic causation of several complex multisystem neurodevelopmental disorders and autism, delineation of rare genetic disorders along with characterization of congenital anomalies or birth defects, syndromic and non-syndromic obesity and precision medicine. His research has been particularly influential in advancing the understanding of Prader–Willi syndrome (PWS), Angelman syndrome (AS), fragile X syndrome, Burnside–Butler syndrome, autism spectrum disorders, Ehlers-Danlos syndromes and genetic forms of obesity [23][24][25][26][27][28][29][30]

Prader–Willi syndrome

Butler is regarded as one of the leading researchers on Prader–Willi syndrome and genetics of obesity. His work helped establish PWS as one of the first recognized human disorders caused by genomic imprinting, demonstrating that the syndrome results from the loss of expression of paternally inherited genes on chromosome 15q11–q13. His investigations contributed to improved clinical diagnosis, molecular classification, genotype–phenotype correlations, and multidisciplinary management of the disorder.[11][31] His recognition and work led to clinical trials in rare disorders and identifying barriers and limitations in treating such disorders such as PWS impacting clinical trial development and use of therapeutic agents when limited natural history and causation are known per disorder. [32][33]

He has also led studies examining the natural history of Prader–Willi syndrome[34], endocrine abnormalities, obesity[35], behavioral characteristics[36], psychiatric manifestations, sleep disorders[37], and therapeutic interventions, helping establish internationally recognized clinical management recommendations.[38]

Genomic imprinting and rare genetic disorders

Beyond Prader–Willi syndrome, Butler has conducted research on the cytogenetic/molecular basis of Angelman[15], fragile X[13], Burnside–Butler (15q11.2 BP1–BP2 microdeletion)[12], Ehlers-Danlos and discovery with clinical characterization and role of genetic defect(s) in causation of other rare genetic disorders.[27] His studies have explored chromosomal microdeletions, copy-number variants, and epigenetic mechanisms underlying neurodevelopmental disorders, intellectual disability, and autism spectrum disorder.

Autism genetics and pharmacogenetics

Butler's later research expanded into the genetics of autism spectrum disorder and precision medicine. He has investigated genetic susceptibility, rare pathogenic variants, and pharmacogenetic approaches for selecting psychiatric medications based on an individual's genetic profile, with the aim of improving treatment outcomes in neurodevelopmental and psychiatric disorders. More recently, he has undertaken integrated in silico analysis of protein-protein interactive networks, involvement of gene-gene pathway associations and functions to better understand the causation of diseases and treatment[39], congenital cardiac and kidney defects[40], autism and PTEN gene[14], addiction[41] and GLP1R agonists in type 2 diabetes and obesity.[42] Gene expression patterns in brain and other tissues using multi-omics approaches involving gene and protein studies in those with PWS and controls are continuing to better understand the molecular and protein disturbances recognized in PWS and relationship with clinical-behavior features seen in PWS when compared with controls are underway and potential role in drug repurposing to identify new therapeutic agents to lessen the severity and improve quality of life for those affected.[43]

Bibliography

  • Genetics of Developmental Disabilities. ASIN : B00UVA0RYI
  • The Identification of the Genetic Components of Autism Spectrum Disorders 2017. ISBN 978-3038425205
  • Genetics of Prader-Willi Syndrome. ISBN 978-3036550251
  • Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2020. ISBN 978-3036536118
  • Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2019. ISBN 978-3036536095
  • Management of Prader-Willi Syndrome 2006;2022. ISBN 978-3030981709
  •   "Career Milestones Of A Medical Geneticist (Volume I: 1978-2019) by Merlin G. But 9798334381162| eBay". eBay. Retrieved 2026-08-17.
  • "A Commemorative Issue in Honor of Professor Merlin G. Butler's Retirement: Unloc 3725830320| eBay". eBay. Retrieved 2026-08-17.

References

  1. 1 2 "Merlin Butler". www.kumc.edu. Retrieved 2026-08-17.
  2. 1 2 3 4 "Pioneering geneticist Merlin G. Butler, M.D., Ph.D., keeps pushing the boundaries of science". www.kumc.edu. Retrieved 2026-08-17.
  3. ↑ Butler, Merlin G.; Miller, Jennifer L.; Forster, Janice L. (2019). "Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update". Current Pediatric Reviews. 15 (4): 207–244. doi:10.2174/1573396315666190716120925. ISSN 1875-6336. PMC 7040524. PMID 31333129.
  4. ↑ College, Chadron State. "Dr. Merlin G. & Ranae Butler Endowment for Life Sc". www.csc.edu. Retrieved 2023-09-21.
  5. ↑ "Pioneering geneticist Merlin G. Butler, M.D., Ph.D., keeps pushing the boundaries of science". www.kumc.edu. Retrieved 2023-09-21.
  6. ↑ "Merlin G. Butler, M.D., Ph.D." Retrieved 2023-09-21.
  7. ↑ Larsen, Carrie (2025-08-21). "Journey of Hope Gala Honoree Spotlight: Merlin Butler, MD, PhD, FFACMG". Prader-Willi Syndrome Association | USA. Retrieved 2026-08-17.
  8. ↑ Butler, Merlin G.; Miller, Jennifer L.; Forster, Janice L. (2019). "Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update". Current Pediatric Reviews. 15 (4): 207–244. doi:10.2174/1573396315666190716120925. PMC 7040524. PMID 31333129.
  9. ↑ Bittel, Douglas C.; Butler, Merlin G. (July 2005). "Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology". Expert Reviews in Molecular Medicine. 7 (14): 1–20. doi:10.1017/S1462399405009531. ISSN 1462-3994. PMC 6750281. PMID 16038620.
  10. ↑ Butler, Merlin G. (1990). "Prader‐Willi syndrome: Current understanding of cause and diagnosis". American Journal of Medical Genetics. 35 (3): 319–332. doi:10.1002/ajmg.1320350306. ISSN 0148-7299.
  11. 1 2 Butler, Merlin G.; Lee, Phillip D. K.; Whitman, Barbara Y., eds. (2006). Management of Prader-Willi Syndrome. New York, NY: Springer New York. doi:10.1007/978-0-387-33536-0. ISBN 978-0-387-25397-8.
  12. 1 2 Rafi, Syed K.; Butler, Merlin G. (January 2020). "The 15q11.2 BP1-BP2 Microdeletion (Burnside–Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Disorders". International Journal of Molecular Sciences. 21 (9): 3296. doi:10.3390/ijms21093296. ISSN 1422-0067. PMC 7246448. PMID 32384786.
  13. 1 2 Sitzmann, Adam F.; Hagelstrom, Robert T.; Tassone, Flora; Hagerman, Randi J.; Butler, Merlin G. (January 2018). "Rare FMR1 gene mutations causing fragile X syndrome: A review". American Journal of Medical Genetics Part A. 176 (1): 11–18. doi:10.1002/ajmg.a.38504. ISSN 1552-4825. PMC 6697153. PMID 29178241.
  14. 1 2 Genovese, Ann; Butler, Merlin G. (January 2020). "Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD)". International Journal of Molecular Sciences. 21 (13): 4726. doi:10.3390/ijms21134726. ISSN 1422-0067. PMC 7369758. PMID 32630718.
  15. 1 2 Godler, David E.; Singh, Deepan; Butler, Merlin G. (2025). "Genetics of Prader–Willi and Angelman syndromes: 2024 update". Current Opinion in Psychiatry. 38 (2): 95–100. doi:10.1097/YCO.0000000000000981. ISSN 0951-7367.
  16. ↑ "Merlin Butler". www.kumc.edu. Retrieved 2023-10-17.
  17. ↑ College, Chadron State. "Dr. Merlin G. & Ranae Butler Endowment for Life Sc | Chadron State College". www.csc.edu. Retrieved 2026-08-17.
  18. ↑ College, Chadron State (2021-05-06). "Koza, Butler to serve as commencement speakers". www.csc.edu. Retrieved 2026-08-17.
  19. ↑ "Career Milestones Of A Medical Geneticist (Volume I: 1978-2019) by Merlin G. But 9798334381162| eBay". eBay. Retrieved 2026-08-17.
  20. ↑ "A Commemorative Issue in Honor of Professor Merlin G. Butler's Retirement: Unloc 3725830320| eBay". eBay. Retrieved 2026-08-17.
  21. ↑ "2016 Chancellors Club professors specialize in genetic disorders, astronomy". KU Endowment. Retrieved 2026-08-17.
  22. ↑ "Dr. Merlin Butler receives PWSA (USA) Award" (PDF). PWSAUSA.
  23. ↑ Butler, Merlin G. (2016), "Single Gene and Syndromic Causes of Obesity: Illustrative Examples", Progress in Molecular Biology and Translational Science, vol. 140, Elsevier, pp. 1–45, ISBN 978-0-12-804615-9, retrieved 2026-08-17{{citation}}: CS1 maint: work parameter with ISBN (link)
  24. ↑ Sitzmann, Adam F.; Hagelstrom, Robert T.; Tassone, Flora; Hagerman, Randi J.; Butler, Merlin G. (2018). "Rare FMR1 gene mutations causing fragile X syndrome: A review". American Journal of Medical Genetics. Part A. 176 (1): 11–18. doi:10.1002/ajmg.a.38504. ISSN 1552-4833. PMC 6697153. PMID 29178241.
  25. ↑ Butler, Merlin G.; Hossain, Waheeda A.; Steinle, Jacob; Gao, Harry; Cox, Eleina; Niu, Yuxin; Quach, May; Veatch, Olivia J. (2022-08-13). "Connective Tissue Disorders and Fragile X Molecular Status in Females: A Case Series and Review". International Journal of Molecular Sciences. 23 (16): 9090. doi:10.3390/ijms23169090. ISSN 1422-0067.
  26. ↑ Butler, Merlin G.; Pratesi, Riccardo; Vnencak‐Jones, Cindy L. (1994-07-15). "Molecular genetic screening in cytogenetically normal mentally retarded males with manifestations of fragile X syndrome". American Journal of Medical Genetics. 51 (4): 315–316. doi:10.1002/ajmg.1320510406. ISSN 0148-7299.
  27. 1 2 VanderJagt, Krystal; Butler, Merlin G. (2019). "Ehlers–Danlos syndrome and other heritable connective tissue disorders that impact pregnancies can be detected using next-generation DNA sequencing". Archives of Gynecology and Obstetrics. 300 (3): 491–493. doi:10.1007/s00404-019-05226-5. ISSN 0932-0067.
  28. ↑ Genovese, Ann C.; Butler, Merlin G. (2025-01-25). "Systematic Review: Fragile X Syndrome Across the Lifespan with a Focus on Genetics, Neurodevelopmental, Behavioral and Psychiatric Associations". Genes. 16 (2): 149. doi:10.3390/genes16020149. ISSN 2073-4425.
  29. ↑ Rafi, Syed K.; Butler, Merlin G. (2020-05-06). "The 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Phenotypes". International Journal of Molecular Sciences. 21 (9): 3296. doi:10.3390/ijms21093296. ISSN 1422-0067. PMC 7246448. PMID 32384786.
  30. ↑ Butler, Merlin G.; Manzardo, Ann M.; Forster, Janice L. (2016). "Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches". Current Pediatric Reviews. 12 (2): 136–166. doi:10.2174/1573396312666151123115250. ISSN 1875-6336. PMC 6742515. PMID 26592417.
  31. ↑ Butler, Merlin G.; Miller, Jennifer L.; Forster, Janice L. (2019-12-30). "Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update". Current Pediatric Reviews. 15 (4): 207–244. doi:10.2174/1573396315666190716120925. PMC 7040524. PMID 31333129.
  32. ↑ Butler, Merlin G.; Silvey, Spencer; van Bosse, Harold J. P. (2025-12-01). "Barriers, Limitations, and Experiences with Clinical Trials—Treatment in Rare Diseases with Prader–Willi Syndrome as an Example". Genes. 16 (12): 1436. doi:10.3390/genes16121436. ISSN 2073-4425. PMC 12732491. PMID 41465109.
  33. ↑ Butler, Merlin G (2025). "New drug approved for hyperphagia in Prader–Willi syndrome". The Lancet Diabetes & Endocrinology. 13 (7): 547–549. doi:10.1016/S2213-8587(25)00161-5.
  34. ↑ Butler, Merlin G.; Hanchett, Jeanne M.; Thompson, Travis (2006), Butler, Merlin G.; Lee, Phillip D. K.; Whitman, Barbara Y. (eds.), "Clinical Findings and Natural History of Prader-Willi Syndrome", Management of Prader-Willi Syndrome, Springer New York, pp. 3–48, doi:10.1007/978-0-387-33536-0_1, ISBN 978-0-387-25397-8, retrieved 2026-08-17{{citation}}: CS1 maint: work parameter with ISBN (link)
  35. ↑ Butler, Merlin G. (2016). "Single Gene and Syndromic Causes of Obesity: Illustrative Examples". Progress in Molecular Biology and Translational Science. 140: 1–45. doi:10.1016/bs.pmbts.2015.12.003. ISSN 1878-0814. PMC 7377403. PMID 27288824.
  36. ↑ Butler, Merlin G.; Bittel, Douglas C.; Kibiryeva, Nataliya; Talebizadeh, Zohreh; Thompson, Travis (2004). "Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy". Pediatrics. 113 (3 Pt 1): 565–573. doi:10.1542/peds.113.3.565. ISSN 1098-4275. PMC 6743499. PMID 14993551.
  37. ↑ Veatch, Olivia J.; Malow, Beth A.; Lee, Hye-Seung; Knight, Aryn; Barrish, Judy O.; Neul, Jeffrey L.; Lane, Jane B.; Skinner, Steven A.; Kaufmann, Walter E.; Miller, Jennifer L.; Driscoll, Daniel J.; Bird, Lynne M.; Butler, Merlin G.; Dykens, Elisabeth M.; Gold, June-Anne (2021). "Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes". Pediatric Neurology. 123: 30–37. doi:10.1016/j.pediatrneurol.2021.07.009. PMC 8429141. PMID 34388423.
  38. ↑ Butler, Merlin G.; Youngs, Erin L.; Roberts, Jennifer L.; Hellings, Jessica A. (2012). "Assessment and treatment in autism spectrum disorders: a focus on genetics and psychiatry". Autism Research and Treatment. 2012 242537. doi:10.1155/2012/242537. ISSN 2090-1933. PMC 3420490. PMID 22934170.
  39. ↑ Godler, David E.; Singh, Deepan; Butler, Merlin G. (2025). "Genetics of Prader–Willi and Angelman syndromes: 2024 update". Current Opinion in Psychiatry. 38 (2): 95–100. doi:10.1097/YCO.0000000000000981. ISSN 0951-7367.
  40. ↑ Barakat, Amin J.; Butler, Merlin G. (2024). "Genetics of anomalies of the kidney and urinary tract with congenital heart disease: A review". Clinical Genetics. 106 (6): 667–678. doi:10.1111/cge.14615. ISSN 0009-9163.
  41. ↑ Hossain, Waheeda A.; Butler, Merlin G. (2026-05-22). "Identification and molecular functional analysis of genes associated with addiction using integrated genetic web-based programs and databases". Frontiers in Genetics. 17. doi:10.3389/fgene.2026.1763510. ISSN 1664-8021.
  42. ↑ Francis, Lucas; Butler, Merlin G. (2025-11-30). "Integrated Genetic and Protein Mechanisms Underlying Glucagon-like Peptide-1 Receptor Agonists in Treating Diabetes Mellitus and Weight Loss". Current Issues in Molecular Biology. 47 (12): 1007. doi:10.3390/cimb47121007. ISSN 1467-3045. PMC 12732264. PMID 41614771.
  43. ↑ Shahrokhi, Shokouh; Baker, Emma K.; See, Michael; Ramialison, Mirana; Gamage, Dinusha; Rossello, Fernando J.; Heussler, Helen; Duhig, Michael; Nicholls, Robert D.; Hannan, Anthony J.; Southey, Melissa C.; Veatch, Olivia; Hossain, Waheeda; Bui, Minh; Amor, David J. (2025-12-24). "Transcriptomic signatures in brain and blood related to cognitive and psychiatric phenotypes of Prader–Willi syndrome". Scientific Reports. 16 (1). doi:10.1038/s41598-025-33041-3. ISSN 2045-2322.
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