Στους συνεργάτες μας περιλαμβάνονται Μαιευτήρια, Κέντρα Εξωσωματικής Γονιμοποίησης, Κέντρα Βλαστοκυττάρων, Διαγνωστικά Εργαστήρια, Ιδιώτες Ιατροί διαφόρων ειδικοτήτων όπως Μαιευτήρες-Γυναικολόγοι, Παιδίατροι, Καρδιολόγοι, Γαστρεντερολόγοι.
ΣΥΝΕΡΓΑΣΙΕΣ
DEC
"Whole-genome sequencing is a new genetic tool that can determine more of a person's DNA sequence than ever before. Our results show that nearly 90 percent of clinically identified mutations were confidently detected and additional cancer gene mutations were discovered, which together with the decreasing costs associated with whole-genome sequencing means that this method will improve patient care, as well as lead to discovery of new cancer genes,"
Whole-genome sequencing can identify patients' risk for hereditary cancer
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ΕΠΙΚΑΙΡΟΤΗΤΑ
DEC
22
Newborns And DNA Sequencing
A new study from researchers at Brigham and Women’s Hospital and Boston Children’s Hospital, found that most prospective new born babyparents they surveyed would like to have their newborns sequenced for medical conditions and disorders.
“Several other studies have measured parents’ interest in newborn genomic screening, but none focused on new parents in the first 48 hours,” Dr. Robert C. Green told the Boston Herald this week. “Since this is when genomic testing would be of the greatest value, it is especially important to study parents’ attitudes immediately post-partum.”
A geneticist and researcher at Harvard Medical School, Dr. Green has done a series of studies to gauge attitudes about personal genetic testing and the impact the information has on participants.
DEC
17
Feature: Peering into my genome
“People need to become more comfortable with uncertainty,” Sharon Plon, a clinical geneticist at Baylor College of Medicine in Houston, Texas, tells me a few days later. But she stresses that acknowledging uncertainty “does not mean that we don’t know anything.” For many families with cancer, large panels provide constructive guidance.
I write to my cousin in San Francisco to share my test results; she is the only close female relative on my father’s side, where the cancer cases cluster. And she’s more familiar than most with the panels: Her mother, my nonbiological aunt, is fighting ovarian cancer and signed up for a panel of 41 genes offered by the University of Washington, Seattle. She tested negative for all of them.
DEC
17
NEOSCREEN PUBLICATIONS
1. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project. Genet. Med. 13 (2011) 230-254
2. Mutational analysis for biotinidase deficiency of a Greek patients’ cohort ascertained through expanded newborn screening. J. Hum. Genet. 56 (2011) 861-865
3. Enhanced interpretation of newborn screening results without analyte cutoff values. Genet.Med. (2012)
4. Expanded Newborn Screening in Greece: Thirty months of experience. J. Inherit. Metab. Dis. DOI: 10.1007/s10545-011-9302-z.
5. Mutational analysis for biotinidase deficiency of a Greek patients’ cohort ascertained through expanded newborn screening. J. Hum. Genetics 56, 861-865 (2011)
6. Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: Identification of a novel variant. Clin Biochem 45, 1167-72 (2012)
7. High incidence of partial biotinidase deficiency cases in newborns of Greek origin. Gene 524 (2013) 361–362
8. Targeted Next-Generation Sequencing in Routine Clinical Practice: Detection of Inherited Mutations in CFTR & BRCA Genes on MiSeq Platform". Under review, 2013, Plos One
9. High incidence of the C563T mutation among Greek newborns with Mediterranean Erythrocyte Glucose – 6 – Phosphate Dehydrogenase Deficiency. Under review (2015) Journal of Peadiatrics and Child Health
10. Efficacy of next generation technology versus less extended panels for CFTR carrier screening in the heterogenous Greek population. European Journal of Human Genetics.2015, under review