Chief Scientific Officer at Homology Medicines Albert Seymour received his undergraduate degree in Biology from the University of Delaware and MS degree in Molecular Biology from Johns Hopkins University where he focused on the molecular genetics of cancer in the laboratory of Dr. Bert Vogelstein. He then went on to receive his PhD and post-doctoral…
Read MoreTest Background The sole mutation responsible for Muenke syndrome is c.749C>G/p.Pro250Arg. Features of Muenke syndrome are variable ranging from no clinically apparent abnormalities to a complex combination of findings. The main characteristic is unilateral or bilateral coronal craniosynostosis or megalencephaly without craniosynostosis. Other features may include midface hypoplasia, hypertelorism, carpal-tarsal fusion, brachydactyly, sensorineural hearing loss,…
Read MoreAssistant Laboratory Director Dr. Hosseini joined Claritas Genomics and Boston Children’s Hospital Department of laboratory Medicine/ Harvard Medical School in 2015 as an Assistant Laboratory Director after completing his ABMG fellowship in clinical molecular genetics at University of Miami/Harvard Medical School Genetics Training Program. He received his MD from Hormozgan University of Medical Sciences, Iran and his…
Read MoreSample Requirements and Shipping Information Acceptable Sample Types and Documentation, Storage, and Shipping Requirements Specimen tubes are required to have at least two unique patient identifiers (name, date of birth, and/or medical record number (MRN)). This information must be attached to the body of the tube directly containing the sample, not to the lid or…
Read MoreTim Yu, MD, PhD; of Boston Childrens Hospital, Co-Founder and Principal Consultant Claritas Genomics to speak 10/8, at WuXi NextCODE Session Big Genomics In Practice October 07, 2015 Boston, Massachusetts | October 7, 2015 Claritas Genomics, Inc., will have six presentations at the American Society of Human Genetics (ASHG) running 10/6 10/10 in…
Read MoreTest Background Mutations in the mitochondrial 12S rRNA/ MTRNR1 gene: M.1555A>G, M.961delT/insC, M.961T>G, M.1095T>C, and M.1494C>T have been found in some patients with aminoglycoside-induced hearing loss or hereditary non-syndromic sensorineural hearing loss. Among these, M.1555A>G is the most common mutation associated with aminoglycoside-induced hearing loss in the Asian population. This test does not rule out…
Read MoreChief Investment Officer, Boston Children’s Hospital In May 2010, Philip Rotner joined Childrens Hospital Boston as its first Chief Investment Officer and established the organizations investment office. He is responsible for overseeing the investment assets of the endowment and pension plan. Prior to joining Childrens Hospital Boston, he was a Managing Director in the Massachusetts…
Read MoreBloomberg Markets’ report on the Businessweek story January 04, 2016
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Read MoreClinical genetic testing services with expert interpretation: Claritas is committed to providing the highest quality tests for diagnosis of pediatric disorders, from pharmacogenomics to inherited disease to cancer. Tests are designed to provide clinically useful results through the use of the technology best suited to identify relevant variants. Assays are performed at both the Claritas…
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