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Main|Search|PHGKB
Last
Posted:
Oct 18, 2018
- Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme.
Bessey Alice et al. Orphanet journal of rare diseases 2018 Oct 13(1) 179
- Rare Disease 2019 Information Packet [PDF 1.00 MB]
NIH, October 2018
- The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.
Karaceper Maria D et al. Orphanet journal of rare diseases 2016 Feb 1112
- A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria.
Spiga Ottavia et al. Computers in biology and medicine 2018 Oct 1031-7
- Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes.
Vos Janet R et al. Familial cancer 2018 Oct
- Milestone reached in major developmental disorders project
Sanger Institute, October 2018
- Rare Disease 2019 Information Packet
NIH, October 2018
- Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
K Splinter et al, NEJM, October 10, 2018
- Finding Answers for Patients With Rarest of Rare Diseases
Associated Press, New York Times, October 11, 2018
- Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.
Vatier Camille et al. Current medical research and opinion 2018 Oct 1-22
more
Information in Various Databases
From
CDC Information
Database
This database includes general CDC
public health information on specific diseases and health
related topics. When available, the database displays genomic
information from various CDC web pages. Users are also
encouraged to conduct searches of CDC website for additional
information.
Go to CDC Information Database
From
Genomics &
Health Impact Scan Database
This database includes published
scientific literature on evidence-based translation of genomic
discoveries into improved health care and disease prevention
that have a potential impact on population health.
Get Records
From
Genomics &
Health Impact Scan Database
This database includes published
scientific literature on evidence-based translation of genomic
discoveries into improved health care and disease prevention
that have a potential impact on population health.
Get Records
From
Genomics &
Health Impact Scan Database
This database includes published
scientific literature on evidence-based translation of genomic
discoveries into improved health care and disease prevention
that have a potential impact on population health.
Get Records
From
Genomics &
Health Impact Scan Database
This database includes published
scientific literature on evidence-based translation of genomic
discoveries into improved health care and disease prevention
that have a potential impact on population health.
Get Records
From
Genomics &
Health Impact Scan Database
This database includes published
scientific literature on evidence-based translation of genomic
discoveries into improved health care and disease prevention
that have a potential impact on population health.
Get Records
From
Genomics &
Health Impact Scan Database
This database includes published
scientific literature on evidence-based translation of genomic
discoveries into improved health care and disease prevention
that have a potential impact on population health.
Get Records
From
National Institutes of Health
Web Sites
- Accelerating evidence gathering and approval of precision medicine therapies: the FDA takes aim at rare mutations
AM Issa et al, Genetics in Medicine, July 10, 2018
- Clinical Trials Bring Hope to Kids with Spinal Muscular Atrophy
F Collins, NIH Director's blog, Nov 21, 2017
- February is American Heart Month. What are rare diseases involving the heart.
NIH Office of Rare Diseases
- Molecular Answers Found for a Mysterious Rare Immune Disorder
Francis Collins, NIH Director, Blog Post, March 29, 2016
- Notice of Intent to Publish a Funding Opportunity Announcement for Rare Disease Cohorts in Heart, Lung, Blood and Sleep Disorders
NHLBI, Apr 2018
- Rare Disease 2019 Information Packet
NIH, October 2018
- Rare Disease Day at NIH
On February 27, 2015, the National Institutes of Health (NIH) will celebrate the eighth annual Rare Disease Day with a day-long celebration
- Rare Disease Day, February 27, 2017
NIH, National Centers for Advancement of Translational Sciences
- Research Round-up: Rare Disease Research
Researchers seek to expand our understanding and develop new treatments, NICHD< February 1, 2016
From
Grant Database
Grant Database is a search engine for finding grant information associated with published literature in Genomics & Health Impact Scan Database or HuGE Literature Finder Database. Grant information can be searched by disease/condition, environmental risk factors, or gene of study and other free text. The grant information is extracted from the grant data in PubMed records.
Get Records
From
GWAS Catalog
The Catalog is a quality controlled, manually curated, literature-derived collection of all published genome-wide association studies.
Get Records
From
NIH The Genetic
Testing Registry
The Genetic Testing Registry (GTR®)
provides a central location for voluntary submission of genetic
test information by providers. The scope includes the test's
purpose, methodology, validity, evidence of the test's usefulness,
and laboratory contacts and credentials. The overarching goal of
the GTR is to advance the public health and research into the
genetic basis of health and disease.
From
NIH OMIM
OMIM is a comprehensive, authoritative
compendium of human genes and genetic phenotypes that is freely
available and updated daily.
From
PubMed Clinical Queries
PubMed Clinical Queries is an utility offered by PubMed to search scientific literature in specific clinical research areas
From
PharmGKB
The PharmGKB is a pharmacogenomics knowledge resource that encompasses clinical information including dosing guidelines and drug labels, potentially clinically actionable gene-drug associations and genotype-phenotype relationships.
From
PubMed
PubMed comprises more than 27 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Disclaimer: Articles listed in the Public
Health Knowledge Base are selected by the CDC Office of Public Health
Genomics to provide current awareness of the literature and news.
Inclusion in the update does not necessarily represent the views of
the Centers for Disease Control and Prevention nor does it imply
endorsement of the article's methods or findings. CDC and DHHS assume
no responsibility for the factual accuracy of the items presented.
The selection, omission, or content of items does not imply any
endorsement or other position taken by CDC or DHHS. Opinion, findings
and conclusions expressed by the original authors of items included
in the update, or persons quoted therein, are strictly their own and
are in no way meant to represent the opinion or views of CDC or DHHS.
References to publications, news sources, and non-CDC Websites are
provided solely for informational purposes and do not imply
endorsement by CDC or DHHS.
