Search Results
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… The cat-like cry is the most prominent clinical feature in newborn children and is usually diagnostic for the cri du …
Fact Sheet
Eugenics is the scientifically erroneous and immoral theory of “racial improvement” and “planned breeding,”
… Project (HGP) and, more recently, advances in genomic screening technologies, there is some concern about whether … genetic diagnoses. The possible genomic-based screening of embryos for behavioral, psychosocial and/or … certain individuals. Some geneticists view both genomic screening and genetic counseling as an extension of eugenics. …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… What not to expect when expecting: when prenatal screening suggests cancer December 4, 2024 A new kind of …
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… & Genomic Medicine Residency , NHGRI 9.15 - 10.15 am Newborn Screening Dr. Deb ra Regier , Assistant Professor, Director … Roles Of Parent - Advocates In Building And Supporting Newborn Screening Programs Prevention and Care of Congenital …
The Genomics Landscape
In the June 2018 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the success of The Cancer Genome Atlas.
… the tools and programs necessary to implement universal screening for newborn hearing loss. Over the years, Jim has also been an …
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… Down syndrome • Incidental Findings Following Prenatal DNA Screening Building Bonds Between NHGRI and NICHD • NICHD has … research Examples of Existing NHGRI -NICHD Collaborations Newborn Sequencing I n Genomic medicine and public H eal Th … NHGRI, NHLBI, NCI Existing and Future Collaborations Newborn S equencing In G enomic medicine and public Heal Th ( …
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… Received). 2017 - 2018. 6. Deniz E (PI). Genome -Wide Screening With CRISPR/Cas9 and Modelling of Resistance … Pediatirc residency training; Lectured on ‘Prenatal and Newborn Genetic screening’, BRAINS Genomic and Bioinformatics … of Lagos, Nigeria; Guest lecturer on ‘Prenatal and newborn genetic screening in Nigeria How far?’ at the Lagos …
Research Funding
The Division of Genomics and Society focuses on the societal issues that need to be studied and addressed as genomics advances.
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… syndrome is found in about 1 out of every 500-1,000 newborn males. The additional sex chromosome results from a …
Staff
Alanna Kulchak Rahm, is a certified genetic counselor, implementation scientist, and Program Director in the Division of Genomic Medicine.
… communication of genomic information, population genomic screening implementation, and utilization of … with optimal implementation of Lynch syndrome tumor screening: An application of coincidence analysis . Genet Med … Sturm AC. A new agenda for implementing population genomic screening . Public Health Genomics . 2024 Jun 22. doi: …