Last Posted: Jan 28, 2021
- Core data set on safety, efficacy, and durability of hemophilia gene therapy for a global registry: Communication from the SSC of the ISTH.
Konkle Barbara et al. Journal of thrombosis and haemostasis : JTH 2020 Nov 18(11) 3074-3077
- Current Clinical Applications of in vivo Gene Therapy with AAVs.
Mendell Jerry R et al. Molecular therapy : the journal of the American Society of Gene Therapy 2020 Dec
- Assessing the current knowledge, attitude and behaviour of adolescents and young adults living with haemophilia.
Mohan Richa et al. Haemophilia : the official journal of the World Federation of Hemophilia 2020 Dec
- Addressing patient education priorities in the era of gene therapy for haemophilia: Towards evidence-informed shared decision-making.
Woollard Laurence et al. Haemophilia : the official journal of the World Federation of Hemophilia 2020 Nov
- Reimbursing the value of gene therapy care in an era of uncertainty.
Noone Declan et al. Haemophilia : the official journal of the World Federation of Hemophilia 2020 Nov
- Evaluation of anti-factor VIII antibody levels in patients with haemophilia A receiving immune tolerance induction therapy or bypassing agents.
Boylan Brian et al. Haemophilia : the official journal of the World Federation of Hemophilia 2020 Nov
- Patient perspectives regarding gene therapy in haemophilia: Interviews from the PAVING study.
van Overbeeke Eline et al. Haemophilia : the official journal of the World Federation of Hemophilia 2020 Nov
- Insights from the Hereditary Thrombotic Thrombocytopenic Purpura Registry: Discussion of Key Findings Based on Individual Cases from Switzerland.
Kremer Hovinga Johanna A et al. Hamostaseologie 2020 Nov 40(S 01) S5-S14
- Novel F8 and F9 gene variants from the PedNet Hemophilia Registry classified according to ACMG/AMP guidelines.
Andersson Nadine G et al. Human mutation 2020 Sep
- Treatment preferences in people with haemophilia A or caregivers of people with haemophilia A: A discrete choice experiment.
Fifer Simon et al. Haemophilia : the official journal of the World Federation of Hemophilia 2020 Aug 26 Suppl 530-40
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
- CDC Information (18)
- NIH Information (8)
- COVID-19 (14)
- CDC Publications (10)
- Human Genome Epidemiologic Studies (239)
- Genomic Tests Evidence Synthesis (7)
- Genomic Tests Guidelines (5)
- Tier-Classified Guidelines (4)
- Pathogen Advanced Molecular Detection (1)
- State Public Health Genomics Programs (7)
- Reviews/Commentaries (69)
- Tools/Methods (3)
- Ethical/Legal and Social Issues (ELSI) (4)
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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.