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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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33 hot topic(s) found with the query "Undiagnosed diseases"

Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International
(Posted: Jul 05, 2024 9AM)

From the abstract: "Rare diseases are recognized as a global public health priority. A timely and accurate diagnosis is a critical enabler for precise and personalized health care. However, barriers to rare disease diagnoses are especially steep for those from historically underserved communities, including low- and middle-income countries. The Undiagnosed Diseases Network International (UDNI) was launched in 2015 to help fill the knowledge gaps that impede diagnosis for rare diseases, and to foster the translation of research into medical practice, aided by active patient involvement. "


Applications of genome sequencing as a single platform for clinical constitutional genetic testing
Y Yang et al, GIM Open, March 20, 2024 (Posted: Mar 27, 2024 1PM)

From the abstract: "The number of human disease genes has dramatically increased over the past decade, largely fueled by ongoing advances in sequencing technologies. In parallel, the number of available clinical genetic tests has also increased, including exome sequencing for undiagnosed diseases. Although most clinical sequencing tests have been centered on enrichment-based multigene panels and exome sequencing, the continued improvements in performance and throughput of genome sequencing suggest that this technology is emerging as a potential platform for routine clinical genetic testing. "


Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
J Pucel et al, Genetics in Medicine, March 1, 2024 (Posted: Mar 01, 2024 0PM)

From the abstract: "In this case control study, we reviewed data from 400 diagnosed and 400 undiagnosed randomly selected participants in the Undiagnosed Diseases Network (UDN), all of whom had undergone ES and/or GS. We analyzed factors associated with receiving a diagnosis by ES and/or GS. Factors associated with a decreased odds of being diagnosed included adult symptom onset, singleton sequencing, and having undergone ES and/or GS prior to acceptance to the UDN (48%, 51%, and 32% lower odds, respectively). Factors that increased the odds of being diagnosed by ES and/or GS included having primarily neurological symptoms and having undergone prior chromosomal microarray testing. "


Machine Learning of Patient Characteristics to Predict Admission Outcomes in the Undiagnosed Diseases Network
H Amiri et al, JAMA Network Open, February 25, 2021 (Posted: Feb 26, 2021 8AM)

Can machine learning algorithms reproduce the performance of clinical experts in determining whether to accept patients to the Undiagnosed Diseases Network for extensive genome-scale evaluation? This prognostic study developed a machine learning model using 2421 patient applications and evaluated the model through retrospective and prospective validation.


Impact of integrated translational research on clinical exome sequencing.
Klee Eric W et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Nov (Posted: Nov 05, 2020 6AM)

From 2012 to 2018, 1101 unselected patients with undiagnosed diseases received exome testing. Outcomes were reviewed to assess impact of the TOP and patient characteristics on diagnostic rates through descriptive and multivariate analyses. The overall diagnostic yield was 24.9%, with 15.8% diagnosed on the basis of clinical exome sequencing alone.


Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Schoch Kelly et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Oct (Posted: Oct 24, 2020 10AM)

Of 791 evaluated individuals, 231 received 240 diagnoses and 17 new disease–gene associations were recognized. Straightforward diagnoses on UDN exome and genome sequencing occurred in 35% (84/240). We considered these tractable in standard clinical practice, although genome sequencing is not yet widely available clinically.


Rare, undiagnosed diseases are relatively common
S Buckles, Mayo Clinic Blog, April 16, 2019 (Posted: Apr 20, 2019 8AM)


Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era.
Macnamara Ellen F et al. Journal of genetic counseling 2019 Jan (Posted: Jan 30, 2019 7AM)


When the Illness Is a Mystery, Patients Turn to These Detectives
G Kolata, NY Times, January 7, 2019 (Posted: Jan 08, 2019 8AM)


https://www.nih.gov/news-events/news-releases/nih-undiagnosed-diseases-network-expands
NIH News, September 234, 2018 Brand (Posted: Sep 25, 2018 9AM)


Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network.
Splinter Kimberly et al. Clinical and translational science 2018 Jan (1) 28-31 (Posted: Mar 15, 2018 5PM)


What’s Behind Many Mystery Ailments? Genetic Mutations, Study Finds
C Zimmer, NY Times, Mar 15,2018 (Posted: Mar 15, 2018 5PM)


A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.
Reuter Chloe M et al. The Journal of pediatrics 2018 Jan (Posted: Jan 17, 2018 11AM)


How the Undiagnosed Diseases Network helped solve my daughter’s medical mystery
H and B Reilly, Texas Children Hospital (Posted: Dec 04, 2017 2PM)


Undiagnosed Diseases Program Seeks to Solve Medical Mysteries
E Bock, NIH record, Oct 6, 2017 (Posted: Oct 07, 2017 7AM)


Japan’s initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey
T Adachi et al, Eur J Human Genetics, July 5, 2017 (Posted: Jul 05, 2017 7PM)


Initiating an undiagnosed diseases program in the Western Australian public health system.
Baynam Gareth et al. Orphanet journal of rare diseases 2017 May 12(1) 83 (Posted: May 10, 2017 10AM)


Collaboration matters when looking for answers to undiagnosed diseases
Lab Blog, Baylor Medicine, February 10, 2017 (Posted: Feb 12, 2017 7PM)


The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
Ramon RB et al, AJHG, February 2, 2017 (Posted: Feb 02, 2017 7PM)


The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.
Gahl William A et al. Molecular genetics and metabolism 2016 Jan (Posted: Feb 10, 2016 9AM)


The Undiagnosed Diseases Network of the National Institutes of Health - A National Extension
WA Gahk et al. JAMA, September 17, 2015 (Posted: Sep 21, 2015 0PM)


A genome sequencing program for novel undiagnosed diseases.
Bloss Cinnamon S et al. Genet. Med. 2015 Mar 19. (Posted: Sep 20, 2015 7AM)


Genome Sequencing: Exploring the Diagnostic Promise
Francis Collins, NIH Director, December, 2014 Brand (Posted: Aug 24, 2015 10AM)


Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sawyer Sarah L et al. Clin. Genet. 2015 Aug 18. (Posted: Aug 19, 2015 1PM)


The NIH Undiagnosed Diseases Network
(Posted: Jul 06, 2015 10AM)


Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Makrythanasis Periklis et al. Hum. Mutat. 2014 Oct (10) 1203-10 (Posted: Mar 19, 2015 5PM)


Exome sequencing for gene discovery in lethal fetal disorders - harnessing the value of extreme phenotypes.
Filges Isabel et al. Prenat. Diagn. 2014 Jul 21. (Posted: Mar 19, 2015 5PM)


Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Farwell Kelly D et al. Genet. Med. 2014 Nov 6. (Posted: Mar 19, 2015 5PM)


Exome sequencing in undiagnosed inherited and sporadic ataxias.
Pyle Angela et al. Brain 2015 Feb (Pt 2) 276-83 (Posted: Mar 19, 2015 5PM)


Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Wright Caroline F et al. Lancet 2014 Dec 16. (Posted: Mar 19, 2015 5PM)


Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu Xiaolin et al. Genet. Med. 2015 Jan 15. (Posted: Mar 19, 2015 5PM)


A genome sequencing program for novel undiagnosed diseases
C. Bloss et al. Genetics in Medicine, March 19, 2015 (Posted: Mar 19, 2015 5PM)


Reconciling the future of genomic medicine with its current reality
Brand (Posted: Feb 25, 2015 0PM)



Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific 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 Clips, 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.
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