Andrea A. Poretti
Andrea A. Poretti, M.D. (12 April 1977 – 20 February 2017) was an associate professor of radiology and radiological science at the Johns Hopkins School of Medicine and a physician-scientist in the field of pediatric neurology and neuroimaging. He was a world-renowned expert in pediatric cerebellar abnormalities and neurodegenerative and neurogenetic disorders.[1][2][3]
Biography
Poretti grew up in Bioggio, in the Italian-speaking part of Switzerland. After graduating high school (Liceo Diocesano – Collegio Pio XII) in Lugano, he studied medicine at the Medical Faculty of the University of Bern before moving to Zürich to work for a medical thesis at the University Children’s Hospital. Under the supervision of Eugen Boltshauser (then head of the Division of Pediatric Neurology) and Michael Grotzer, he studied complications, outcome, and quality of life in patients with craniopharyngioma. Upon completion of the pediatric residency at the Ospedale Regionale in his hometown Lugano, he completed his training in pediatrics and pediatric neurology in the University Children’s Hospital Zürich.
In 2009 he was recruited to Johns Hopkins by Thierry Huisman to join the Division of Pediatric Radiology as a research and postdoctoral fellow. In the stimulating scientific environment of Johns Hopkins, Andrea gained increasing expertise in advanced neuroimaging (such as diffusion tensor imaging, susceptibility weighted imaging, connectomics).
Using his combined expertise in clinical pediatric neurology and neuroimaging (such as diffusion tensor imaging, susceptibility weighted imaging, connectomics), in 2014 he identified and described a new syndrome that by consensus has become known in the literature as Poretti-Boltshauser syndrome.[4]
In August 2015, he was promoted to Assistant Professor of Radiology and Radiological Sciences and became the head of the Pediatric Neuroimaging Research mission at Johns Hopkins. His promotion to the position of Associate Professor was approved by the departmental promotion committee one year later in 2016. Furthermore, he received the Maryland Medical license by conceded eminence based upon his achievements in academic medicine.[5] This medical license allowed him to accept a position as a part-time faculty member at the Kennedy Krieger Institute, a Johns Hopkins affiliate that provides dedicated medical care to children and adolescents with learning disabilities, as well as disorders of the brain, spinal cord, and musculoskeletal system.[6]
With the support of Michael V. Johnston, executive vice president and chief medical officer of the Kennedy Krieger Institute and Professor of Neurology and Pediatrics, Poretti was expected to build a dedicated clinic focusing on combining the clinical, imaging, and genetic aspects of cerebellar disorders. He would have continued to lead the pediatric neuroimaging research mission within the Division of Pediatric Radiology and Pediatric Neuroradiology in collaboration with Thierry Huisman.
In his time at Johns Hopkins, Poretti published more than 120 scientific articles and gave more than 150 invited lectures internationally. In recognition of his expertise, Andrea was invited to join the editorial boards of Cerebellum & Ataxias, Journal of Neuroimaging, American Journal of Neuroradiology, and Neuropediatrics.
He served as Lieutenant in the Swiss Army (Medical corps).
Poretti died on 20 March 2017 at his home in the Stanbalt Building in Baltimore, Maryland, from natural causes.[7][8][9] He is survived by two brothers, his mother and his father, all of whom live in Switzerland.
The Poretti-Boltshauser syndrome
The Poretti-Boltshauser syndrome is an autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis hypoplasia, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities.[10] Affected individuals have delayed motor development and often have speech delay. Cognitive function can range from normal to intellectual disability.[10]
Honours
Poretti received the 2016 American Society of Pediatric Neuroradiology (ASPNR) Annual Award in Pediatric Neuroradiology Research for his work on the structural connectome of the human brain in children with tuberous sclerosis complex.[11]
In 2022 the American Society of Pediatric Neuroradiology (ASPNR) introduced the Dr. Andrea Poretti Honorary Lecture.[12] In his introductory remarks, referring to Poretti, Thierry Huisman stated “He was a humble gentle genius. The focus on the “small brain” (the cerebellum) continues. We will continue your work and stay focused on helping the children”.[13]
References
- ↑ March 27, Chanapa Tantibanchachai (2017-03-27). "Renowned Johns Hopkins pediatric neurologist Andrea Poretti dies at 39". The Hub. Retrieved 2022-07-31.
- ↑ "Andrea Poretti, pediatric neurologist at The Johns Hopkins University School of Medicine, dies at 39". www.hopkinsmedicine.org. 2017-03-27. Retrieved 2022-07-31.
- ↑ Boltshauser, E. (2017). "In Memoriam Andrea Poretti". The Cerebellum. doi:10.1007/s12311-017-0864-7.
- ↑ "Entry - #615960 - PORETTI-BOLTSHAUSER SYNDROME; PTBHS - OMIM". omim.org. Retrieved 2022-07-31.
- ↑ https://www.mbp.state.md.us/forms/jan17fullagenda.pdf
- ↑ Boltshauser, E. (2017). "In Memoriam Andrea Poretti". The Cerebellum. doi:10.1007/s12311-017-0864-7.
- ↑ March 27, Chanapa Tantibanchachai (2017-03-27). "Renowned Johns Hopkins pediatric neurologist Andrea Poretti dies at 39". The Hub. Retrieved 2022-07-31.
- ↑ "morto un giovane medico ticinese a baltimora". cdt (in italiano). 2017-03-28. Retrieved 2022-08-07.
- ↑ "Medico ticinese muore a Baltimora". Ticinonews (in italiano). 2017-03-28. Retrieved 2022-08-07.
- ↑ 10.0 10.1 "Home". Poretti Boltshauser Syndrome. Retrieved 2022-07-31.
- ↑ "Awards". American Society of Pediatric Neuroradiology. Retrieved 2022-07-31.
- ↑ https://aspnr.org/wp-content/uploads/2021/09/2022-aspnr-brochure.pdf
- ↑ "ASPNR at Twitter". Twitter. Retrieved 2022-07-31.
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