Shivarajan Manickavasagam Amudhavalli
Clinical Geneticist,
Childrens Mercy Hospital
I started my Genetics career as an honorary trainee in Fetal Care Research Foundation in Chennai, India, fresh after my medical school. Following this, after gaining nearly 10 years of General Pediatric experience at UK and US, finally came back Clinical Genetics at Johns Hopkins, McCusick/Nathans Institute of Genetic Medicine as a trainee. I am currently a practicing Clinical Geneticist at Childrens Mercy Hospital of Kansas City, Missouri.
I now have 10 years of expertise in recognizing and managing rare and complex genetic disorders. I have special interest and experience in Cardiovascular Genetics, Skeletal Dysplasias and Pediatric Cancer syndromes. I am currently a co-director of the Skeletal Dysplasia clinic at Childrens Mercy Hospital. I am actively involved in describing novel phenotype- genotype correlations. Examples of these include DHX36 and DHX 30 related intellectual disability syndromes with multiple congenital anomalies. I am a Co-investigator in Genomic Answers for Kids study at Genomic Medicine Center in CMH. I am also the First author on GeneReviews on Ayme-Gripp syndrome. Other notable contributions include phenotypic expansion of Feingold Syndrome -2 and presenting evidence of GRHL3 haploinsufficiency in association with syndromic cleft palate. While some of these are publications in peer reviewed journals, others are poster presentation in American College of Medical Genetics conferences.
I currently have the honor of being an invited member of MO Healthnet Rare Disease Advisory Committee. I am also one of the newest members of the Consultant Editor team in GeneReviews.
I now have 10 years of expertise in recognizing and managing rare and complex genetic disorders. I have special interest and experience in Cardiovascular Genetics, Skeletal Dysplasias and Pediatric Cancer syndromes. I am currently a co-director of the Skeletal Dysplasia clinic at Childrens Mercy Hospital. I am actively involved in describing novel phenotype- genotype correlations. Examples of these include DHX36 and DHX 30 related intellectual disability syndromes with multiple congenital anomalies. I am a Co-investigator in Genomic Answers for Kids study at Genomic Medicine Center in CMH. I am also the First author on GeneReviews on Ayme-Gripp syndrome. Other notable contributions include phenotypic expansion of Feingold Syndrome -2 and presenting evidence of GRHL3 haploinsufficiency in association with syndromic cleft palate. While some of these are publications in peer reviewed journals, others are poster presentation in American College of Medical Genetics conferences.
I currently have the honor of being an invited member of MO Healthnet Rare Disease Advisory Committee. I am also one of the newest members of the Consultant Editor team in GeneReviews.
Sessions
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20-Mar-2025
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20-Mar-2025
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21-Mar-2025