Down syndrome: National conference on patient registries, research databases, and biobanks

Molecular Genetics and Metabolism

Volumn 104, Issue 1-2, 2011, Pages 13-22

  Oster Granite, Mary Lou ^a   Parisi, Melissa A ^a   Abbeduto, Leonard ^b   Berlin, Dorit S ^c   Bodine, Cathy ^d   Bynum, Dana ^a   Capone, George ^e   Collier, Elaine ^f   Hall, Dan ^g   Kaeser, Lisa ^a   Kaufmann, Petra ^h   Krischer, Jeffrey ⁱ   Livingston, Michelle ^j   McCabe, Linda L ^k   Pace, Jill ^a   Pfenninger, Karl ^d   Rasmussen, Sonja A ^l   Reeves, Roger H ^m   Rubinstein, Yaffa ⁿ   Sherman, Stephanie ^o   Terry, Sharon F ^p   SieWhitten, Michelle ^j   Williams, Stephen ^q   McCabe, Edward R B ^k   Maddox, Yvonne T ^a   more..

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b UNIVERSITY OF WISCONSIN MADISON   (United States)

^c Laboratory of Molecular and Cellular Biology of Hematopoiesis   (United States)

^d UNIVERSITY OF COLORADO   (United States)

^e KENNEDY KRIEGER INSTITUTE   (United States)

^f NATIONAL INSTITUTES OF HEALTH   (United States)

^g NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^h NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

ⁱ UNIVERSITY OF SOUTH FLORIDA   (United States)

^j Global Down Syndrome Foundation   (United States)

^k UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^l CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

^m JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁿ NATIONAL INSTITUTES OF HEALTH   (United States)

^o EMORY UNIVERSITY   (United States)

^p GENETIC ALLIANCE   (United States)

^q SomaLogic Inc   (United States)

more..

Author keywords

Biobank; Database; Down syndrome; Registry; Trisomy 21

Indexed keywords

BIOTECHNOLOGY; CONFERENCE PAPER; DATA BASE; DISEASE REGISTRY; DNA DETERMINATION; DOWN SYNDROME; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; KARYOTYPING; MEDICAL INFORMATION; MEDICAL RESEARCH; MICROARRAY ANALYSIS; NATIONAL HEALTH ORGANIZATION; PRIORITY JOURNAL; PUBLIC HEALTH SERVICE;

BIOLOGICAL SPECIMEN BANKS; BIOMEDICAL RESEARCH; DATABASES AS TOPIC; DOWN SYNDROME; HUMANS; REGISTRIES; UNITED STATES;

EUNICE;

EID: 80052523015     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.07.005     Document Type: Conference Paper

References (14)

1. Parker S.E., Mai C.T., Canfield M.A., Rickard R., Wang Y., Meyer R.E., Anderson P., Mason C.A., Collins J.S., Kirby R.S., Correa A. Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006 birth defects. Res. A. Clin. Mol. Teratol. 2010, 88:1008-1016.
2. Melve K.K., Lie R.T., Skjaerven R., Van Der Hagen C.B., Gradek G.A., Jonsrud C., Braathen G.J., Irgens L.M. Registration of Down syndrome in the Medical Birth Registry of Norway: validity and time trends. Acta. Obstet. Gynecol. Scand. 2008, 87:824-830.
3. Bittles A.H., Bower C., Hussain R., Glasson E.J. The four ages of Down syndrome. Eur. J. Public. Health 2007, 17:221-225.
4. Bittles A.H., Glasson E.J. Clinical, social, and ethical implications of changing life expectancy in Down syndrome. Dev. Med. Child. Neurol. 2004, 46:282-286.
5. Glasson E.J., Sullivan S.G., Hussain R., Petterson B.A., Montgomery P.D., Bittles A.H. The changing survival profile of people with Down's syndrome: implications for genetic counselling. Clin. Genet. 2002, 62:390-393.
6. Rasmussen S.A., Whitehead N., Collier S.A., Frias J.L. Setting a public health research agenda for Down syndrome: summary of a meeting sponsored by the Centers for Disease Control and Prevention and the National Down Syndrome Society. Am. J. Med. Genet. A. 2008, 146A:2998-3010.
7. Krahn G., Fox M.H., Campbell V.A., Ramon I., Jesien G. Developing a health surveillance system for people with intellectual disabilities in the United States. J. Policy Pract. Intellect. Disabil. 2010, 7:155-166.
8. Centers for Disease Control and Prevention (CDC) Racial disparities in median age at death of persons with Down syndrome-United States, 1968-1997. MMWR Morb. Mortal Wkly. Rep. 2001, 50:463-465.
9. Shin M., Kucik J.E., Correa A. Causes of death and case fatality rates among infants with Down syndrome in metropolitan Atlanta birth defects. Res. A. Clin. Mol. Teratol. 2007, 79:775-780.
10. DiGuiseppi C., Hepburn S., Davis J.M., Fidler D.J., Hartway S., Lee N.R., Miller L., Ruttenber M., Robinson C. Screening for autism spectrum disorders in children with Down syndrome: population prevalence and screening test characteristics. J. Dev. Behav. Pediatr. 2010, 31:181-191.
11. Terry S.F., Horn E.J., Scott J., Terry P.F. Genetic Alliance Registry and BioBank: a novel disease advocacy-driven research solution. Personalized Med. 2011, 8:207-213.
12. Forrest C.B., Bartek R.J., Rubinstein Y., Groft S.C. The case for a global rare-diseases registry. Lancet 2011, 377:1057-1059.
13. Rubinstein Y.R., Groft S.C., Bartek R., Brown K., Christensen R.A., Collier E., Farber A., Farmer J., Ferguson J.H., Forrest C.B., Lockhart N.C., McCurdy K.R., Moore H., Pollen G.B., Richesson R., Miller V.R., Hull S., Vaught J. Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB. Contemp. Clin. Trials. 2010, 31:394-404.
14. McCabe L.L., McCabe E.R.B. Down syndrome: issues to consider in a national registry, research database and biobank. Mol. Genet. Metab. 2011, 104:10-12. (this issue).