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alleles associated with increased sensitivity to amphetamine-induced euphoria and decreased sensitivity to developing schizophrenia and ADHD. This work opens new possibilities to use the alleles that demonstrated changes in expression in order to analyze risk for developing neurological disorders that involve dopamine. Dopamine is the chemical in d-amphetamine that is responsible for its euphoric effects, and some disorders such as schizophrenia involve abnormal dopamine levels, though other factors are involved.
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genetic variants in LIPC of the high-density lipoprotein cholesterol (HDL) pathway. The strongest association was found for rs10468017, which correlated with a protective, HDL-increasing effect of the T allele involved in AMD. Weaker associations were found for other LIPC loci ABCA1 and FADS1-3. The impact of this research lies in its examination of previously unthought-of pathways involved in the development of AMD.
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a negative association between IQ scores and spontaneous loss of function mutation rates, and a positive association between IQ scores and family history of mental illness. This study suggests family history of mental illness could play a more influential role than previously thought in the phenotypic and genetic manifestations of autism.
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Neale has also researched influences on behaviors indicative of autism, namely that of de novo and familial factors. The purpose of the study was to analyze IQ scores, assessments of behavior and language, spontaneous loss of function mutations, and familial history of mental illness. The study found
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That same year, he contributed on a paper examining the gene variant that allows for the experience of euphoria when taking d-amphetamine and connecting it to decreased risk for developing schizophrenia and ADHD. In particular, the research found increased expression, or enrichment, of certain
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In 2014, Neale contributed to a paper on the design of scientific disease studies focusing on uncommon genetic variants. The article included the operationalization of variables, advice on sample size, discussion of alleles and their frequencies, and information on noncoding and regions of the
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Neale has published work on autism and genetic contributions to disease. In 2010, Neale wrote about the function of the hepatic lipase gene, LIPC. The experiment found an association between advanced age-related macular degeneration (AMD), which is the main culprit of late onset blindness, and
157:, which allows for whole-genome data to be analyzed for specific gene markers. Related to his work on GWAS, Neale is the lead of the ADHD psychiatric genetics and also a member of the Psychiatric GWAS Consortium analysis committee.
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Neale's academic background includes a
Genetics Bachelor's of Science degree from the University of Chicago and a Ph.D. in human genetics from King’s College. His postdoctoral project was done in the laboratory of
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Purcell, Shaun; Neale, Benjamin; Todd-Brown, Kathe; Thomas, Lori; Ferreira, Manuel A.R.; Bender, David; Maller, Julian; Sklar, Pamela; De Bakker, Paul I.W.; Daly, Mark J.; Sham, Pak C. (2007-09-01).
202:, saying "the long-term hope is that the genetic discoveries can form the basis of better understanding of the underlying biological processes that are involved in bipolar disorder".
606:"Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder"
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153:(GWAS). He was responsible for the data analysis of the first GWAS on attention-deficit/hyperactivity-disorder, and he developed new analysis software such as
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472:"Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)"
740:"HMS and Broad Institute Researchers Discover First Strong Genetic Link to Bipolar Disorder | News | The Harvard Crimson"
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at
Massachusetts General Hospital. Neale was recently awarded the 2020 Early-Career Award by the
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295:"The second Leena Peltonen Prize for Excellence in Human Genetics to Dr. Benjamin Neale"
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In 2022, Neale co-published a study which linked potential genetic variants with
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for his emphasis on using statistical methodology in his research analyses.
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and psychiatric genetics. This has included research on the genetics of
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Prize for
Excellence in Human Genetics from the Paulo Foundation in
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855:"Many Genes Influence Same-Sex Sexuality, Not a Single 'Gay Gene'"
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804:"Same genes drive several psychiatric conditions, study says"
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Cosgrove, Jonathan A.; Lu, Andrew M. (22 April 2022).
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and the
Analytic and Translational Genetics Unit at
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133:is a statistical geneticist with a specialty in
677:Proceedings of the National Academy of Sciences
610:Proceedings of the National Academy of Sciences
543:Proceedings of the National Academy of Sciences
476:Proceedings of the National Academy of Sciences
65:Prize for Excellence in Human Genetics (2016)
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974:21st-century American LGBTQ people
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604:Neale, Benjamin (April 22, 2014).
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830:"Genetic Test for Autism Refuted"
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768:"Schizophrenia's Genetic Roots"
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431:Md 20852 (2020-07-13).
149:. Neale specializes in
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143:Harvard Medical School
131:Benjamin Michael Neale
99:Harvard Medical School
16:Statistical geneticist
224:psychiatric disorders
42:King's College London
33:University of Chicago
272:Statistical Genetics
135:psychiatric genetics
85:Statistical genetics
53:Psychiatric genetics
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859:The New York Times
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161:Education
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