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Rare Disease PHGKB

Specific PHGKB|Rare Diseases PHGKB|PHGKB

Last Posted: Nov 27, 2021
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New Clinical Trial Grants for Rare Diseases
R Rubin, JAMA, November 23, 2021

A painful, potentially life-threatening skin disease, an inherited disease that can cause long-term brain development issues, and pediatric brain cancer are among the rare diseases for which the US Food and Drug Administration has awarded 11 new clinical trial research grants. Many of the studies involve children, some as young as newborns. One trial is evaluating the treatment of recessive dystrophic epidermolysis bullosa, the inherited skin disorder that can lead to painful, life-threatening blisters and wounds. Another study is evaluating early treatment of tuberous sclerosis complex before the onset of seizures in infants.

Belzutifan for Renal Cell Carcinoma in von Hippel-Lindau Disease.
Jonasch Eric et al. The New England journal of medicine 2021 11 (22) 2036-2046

A rare autosomal dominant hereditary disorder, von Hippel–Lindau (VHL) disease is caused by germline pathogenic variants in the VHL gene. VHL disease occurs in approximately 1 in every 27,300 to 39,000 live births. The condition is associated with benign and malignant neoplasms. Belzutifan was associated with predominantly grade 1 and 2 adverse events and showed activity in patients with renal cell carcinomas and non–renal cell carcinoma neoplasms associated with VHL disease.

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
et al. The New England journal of medicine 2021 11 (20) 1868-1880

This pilot study of genome sequencing in a national health care system showed an increase in diagnostic yield across a range of rare diseases. Diagnostic yields varied among family structures and were highest in family trios (both parents and a proband) and families with larger pedigrees. Diagnostic yields were much higher for disorders likely to have a monogenic cause (35%) than for disorders likely to have a complex cause (11%). Diagnostic yields for intellectual disability, hearing disorders, and vision disorders ranged from 40 to 55%. We made genetic diagnoses in 25% of the probands. A total of 14% of the diagnoses were made by means of the combination of research and automated approaches, which was critical for cases in which we found etiologic noncoding, structural, and mitochondrial genome variants and coding variants poorly covered by exome sequencing.

Bespoke Gene Therapy Consortium
NIH, October 2021

The AMP Bespoke Gene Therapy Consortium (BGTC) aims to develop platforms and standards that will speed the development and delivery of customized or ‘bespoke’ gene therapies that could treat the millions of people affected by rare diseases.


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A risk prediction tool for individuals with a family history of breast, ovarian, or pancreatic cancer: BRCAPANCPRO. External Web Site Icon
Blackford Amanda L et al. British journal of cancer 2021
Access to genetic testing for rare diseases: Existing gaps in public-facing information. External Web Site Icon
Robillard Julie M et al. World medical & health policy 2021 13(3) 518-525
Construction and Verification of a Hypoxia-Stemness-Based Gene Signature for Risk Stratification in Esophageal Cancer. External Web Site Icon
Tang Kang et al. Medical science monitor : international medical journal of experimental and clinical research 2021 27e934359
Genetic screening techniques and diseases for neonatal genetic diseases. External Web Site Icon
Han Lianshu et al. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2021 50(4) 429-435
Hemophilia Gene Therapy Value Assessment: Methodological Challenges and Recommendations. External Web Site Icon
Garrison Louis P et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2021 24(11) 1628-1633
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project. External Web Site Icon
Best Sunayna et al. Journal of medical genetics 2021
Recent Advances on the Genetics of Spontaneous Coronary Artery Dissection. External Web Site Icon
Amrani-Midoun Asma et al. Circulation. Genomic and precision medicine 2021 CIRCGEN121003393
The Assessment of Selected miRNA Profile in Familial Mediterranean Fever. External Web Site Icon
Kahraman Cigdem Yuce et al. BioMed research international 2021 20216495700
Why is AAV FVIII gene therapy not approved by the US Food and Drug Administration yet? External Web Site Icon
Arruda Valder R et al. Blood advances 2021 5(20) 4313
A semi-automated, isolation-free, high-throughput SARS-CoV-2 reverse transcriptase (RT) loop-mediated isothermal amplification (LAMP) test. External Web Site Icon
Schmidt Jonas, et al. Scientific reports 2021 0 0. (1) 21385

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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.

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