Louis Ptáček: Difference between revisions

'''Louis Ptáček''' (Czech origin, Ptáček means a Little Bird) is an American neurologist and professor who contributed greatly to the field of [[genetics]] and [[neuroscience]]. He was also an HHMI investigator from 1997 to 2018.<ref name=":1" /> His chief areas of research include the understanding of inherited [[Mendelian inheritance|Mendelian]] disorders, and [[circadian rhythm]] genes. Currently, Ptáček is a neurology professor and a director of the Division of Neurogenetics{{Citation needed|date=December 2020}} in [[University of California, San Francisco|University of California, San Francisco, School of Medicine]]. His current investigations primarily focus on extensive clinical studies in families with hereditary disorders, which include identifying and characterizing the genes responsible for neurological variations.<ref name=":1" />

In 1982, Louis Ptáček earned his [[Bachelor of Science]] degree in [[mathematics]] from the [[University of Wisconsin–Madison|University of Wisconsin-Madison]]. In 1986, he received his [[Doctor of Medicine]] degree from the [[University of Wisconsin–Madison|University of Wisconsin-Madison]] Medical School.<ref name=":0">{{Cite web|url=http://www.neugenes.org/louisptacek.htm|title=Neurogenetics: Louis Ptacek|website=www.neugenes.org|access-date=2017-04-11}}</ref> During his neurology residency at [[University of Utah]], he met a 28-year-old female patient who was suffering from [[Periodic paralysis|sporadic paralysis]], that inspired his current interest in the research of [[Genetic disorder|genetic diseases]] and episodic disorders. In 1991, he discovered that a mutation in a gene ([[Nav1.4|SCN4A]]) that coded for a muscle cell [[sodium channel]] caused the patient’spatient's condition, [[hyperkalemic periodic paralysis]]. As the first channel was discovered to cause human disease, this human [[skeletal muscle]] sodium channel prevented the muscle from proper contractions.<ref name=":1" /><ref>{{Cite journal|last=Sakoda|first=S.|last2=Nakagawa|first2=M.|last3=Arimura|first3=Y.|last4=Arimura|first4=K.|last5=Osame|first5=M.|date=1997-12-01|title=[Familial hyperkalemic periodic paralysis: a brief review of the adult human skeletal muscle sodium channel and the application of LA-PCR to the SCN4A gene analysis]|url=https://www.ncbi.nlm.nih.gov/pubmed/9436446|journal=Nihon Rinsho. Japanese Journal of Clinical Medicine|volume=55|issue=12|pages=3253–3258|issn=0047-1852|pmid=9436446}}</ref> This invoked a series of discoveries of mutant ion channel genes whichthat constructed the framework for studying similar diseases, which Ptáček calls “"[[Channelopathy|channelopathies]].”"<ref name=":4">{{Cite web|url=http://profiles.ucsf.edu/louis.ptacek|title=UCSF Profiles|website=profiles.ucsf.edu|language=en|access-date=2017-04-12}}</ref>

His current research mainly focuses on identifying the genes involved with [[Andersen–Tawil syndrome|Andersen-Tawil syndrome]] (ATS). Ptáček's lab have identified [[Kir2.1|KCNJ2]] mutations to be potentially responsible for this syndrome, but due to the intrafamilial variability among the mutations, they hope to identify and characterize this gene further.<ref>{{Cite journal|last=Nguyen|first=Hoai-Linh|last2=Pieper|first2=Gerard H.|last3=Wilders|first3=Ronald|date=2013-12-05|title=Andersen-Tawil syndrome: clinical and molecular aspects|url=https://www.ncbi.nlm.nih.gov/pubmed/24383070|journal=International Journal of Cardiology|volume=170|issue=1|pages=1–16|issn=1874-1754|pmid=24383070|doi=10.1016/j.ijcard.2013.10.010}}</ref> Thus far, Ptáček and his colleagues have identified six disease-causing [[Mutation|mutationsmutation]]s, five of which are [[Muller's morphs|dominant negative]] mutations that mask the [[Wild type|wild-type]] [[allele]], resulting in a loss-of-function of that gene.<ref name=":2" /> With his continued research on ATS, Ptáček has discovered and identified additional phenotypic diagnostic criteria for ATS using skeletal and dental findings.<ref>{{Cite journal|last=Sansone|first=Valeria|last2=Tawil|first2=Rabi|date=2007-04-01|title=Management and treatment of Andersen-Tawil syndrome (ATS)|url=https://www.ncbi.nlm.nih.gov/pubmed/17395133|journal=Neurotherapeutics: The Journal of the American Society for Experimental NeuroTherapeutics|volume=4|issue=2|pages=233–237|doi=10.1016/j.nurt.2007.01.005|issn=1933-7213|pmid=17395133|doi-access=free}}</ref> Additionally, he has identified other markers of the KCNJ2 channel mutation's including its [[Electrocardiography|ECG]] outputs' [[T wave|T-Wave]] and [[U wave|U-Wave]] patterns in order to provide more accurate differential diagnosis from [[Long QT syndrome|Long QT Syndrome]].<ref>{{Cite journal|last=Kukla|first=Piotr|last2=Biernacka|first2=Elzbieta K.|last3=Baranchuk|first3=Adrian|last4=Jastrzebski|first4=Marek|last5=Jagodzinska|first5=Michalina|date=2014-08-01|title=Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome|url=https://www.ncbi.nlm.nih.gov/pubmed/24827800|journal=Current Cardiology Reviews|volume=10|issue=3|pages=222–228|doi=10.2174/1573403X10666140514102528|issn=1875-6557|pmc=4040873|pmid=24827800}}</ref>