Last Posted: Jan 07, 2021
- Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease.
Amador Maria Del Mar et al. Neurology. Genetics 2021 Feb 7(1) e538
- Informing about genetic risk in families with Huntington disease: comparison of attitudes across two decades.
Pierron Lucie et al. European journal of human genetics : EJHG 2020 Dec
- Predictive testing for neurodegenerative diseases in the age of next-generation sequencing.
Goldman Jill et al. Journal of genetic counseling 2020 Oct
- Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping.
Zhao Mingjue et al. Scientific reports 2019 Nov 9(1) 16481
- Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers.
Eno Celeste C et al. Molecular genetics & genomic medicine 2019 Nov e1026
- A Deep Learning-Based Approach for Gait Analysis in Huntington Disease.
Zhang Shisheng et al. Studies in health technology and informatics 2019 Aug 264477-481
- Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptoms.
Ramond Francis et al. Molecular genetics & genomic medicine 2019 Aug e881
- Association of CAG Repeats With Long-term Progression in Huntington Disease
DR Langbehn et al, JAMA Neurology, August 12, 2019
- The choice not to undergo genetic testing for Huntington disease: Results from the PHAROS study.
Anderson Karen E et al. Clinical genetics 2019 May
- Experimental Drug For Huntington's Disease Jams Malfunctioning Gene
R Harris, NPR, May 9, 2019
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
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.