The past and future of genetics in pulmonary disease: You can teach an old dog new tricks

Nogee, Lawrence M.; Hamvas, Aaron

doi:10.1002/ppul.24669

Cited by 3 publications

(2 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The traditional view that IPF is a sporadic disease of unknown etiology limited to the lungs and almost always affecting the elderly has been challenged in the last decade by the clinical observation that it develops 10 times more often in members of families and that it may develop as part of a multisystem, inherited disease of telomeres, named telomeropathy (short telomeres syndrome, STS) where members of the same family may also present skin, mucosa, and hair abnormalities, T-cell immunodeficiency, and bone-marrow and/or liver disease [ 20 , 21 , 22 , 23 , 24 , 25 ]. All the above, in combination with the fact that certain forms of interstitial lung disease develop at a very early age (children’s interstitial lung disease-chILD) may be attributed to genetic predisposition, provided evidence of an inheritable component in IPF [ 26 ].Thanks to progress in genomics, it has been shown that heritability in adult IPF relates, in most cases but not all, to pathogenic variations in surfactant-related genes ( SRG s) and telomere-related genes ( TRG ) in monogenic inheritance and a single-nucleotide polymorphism (SNP) in the promoter of the MUC5B gene encoding Mucin 5B (rs35705950 T risk allele) in polygenic inheritance (the most common genetic variant) [ 27 ]. Genetic studies in IPF and also in other f-ILDs have identified several SNPs associated with fibrosis, the rare variants conferring a higher risk while the common ones a lower risk [ 28 ].…”

Section: Introductionmentioning

confidence: 99%

Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective

et al. 2022

View full text Add to dashboard Cite

Background: Unraveling the genetic background in a significant proportion of patients with both sporadic and familial IPF provided new insights into the pathogenic pathways of pulmonary fibrosis. Aim: The aim of the present study is to overview the clinical significance of genetics in IPF. Perspective: It is fascinating to realize the so-far underestimated but dynamically increasing impact that genetics has on aspects related to the pathophysiology, accurate and early diagnosis, and treatment and prevention of this devastating disease. Genetics in IPF have contributed as no other in unchaining the disease from the dogma of a “a sporadic entity of the elderly, limited to the lungs” and allowed all scientists, but mostly clinicians, all over the world to consider its many aspects and “faces” in all age groups, including its co-existence with several extra pulmonary conditions from cutaneous albinism to bone-marrow and liver failure. Conclusion: By providing additional evidence for unsuspected characteristics such as immunodeficiency, impaired mucus, and surfactant and telomere maintenance that very often co-exist through the interaction of common and rare genetic variants in the same patient, genetics have created a generous and pluralistic yet unifying platform that could lead to the understanding of the injurious and pro-fibrotic effects of many seemingly unrelated extrinsic and intrinsic offending factors. The same platform constantly instructs us about our limitations as well as about the heritability, the knowledge and the wisdom that is still missing.

show abstract

Section: Introductionmentioning

confidence: 99%

Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective

et al. 2022

View full text Add to dashboard Cite

show abstract

“…An important limitation is that our current understanding of the impact of DNA sequence variants on phenotypes is limited, particularly with respect to variants in untranslated regions, which would not be identified by most approaches other than WGS. Table 4 lists advantages and disadvantages of different genetic testing methodologies (adapted from [ 60 ]).…”

Section: Introductionmentioning

confidence: 99%

Genetic Testing for Neonatal Respiratory Disease

Nogee

Ryan

2021

Children

Self Cite

View full text Add to dashboard Cite

Genetic mechanisms are now recognized as rare causes of neonatal lung disease. Genes potentially responsible for neonatal lung disease include those encoding proteins important in surfactant function and metabolism, transcription factors important in lung development, proteins involved in ciliary assembly and function, and various other structural and immune regulation genes. The phenotypes of infants with genetic causes of neonatal lung disease may have some features that are difficult to distinguish clinically from more common, reversible causes of lung disease, and from each other. Multigene panels are now available that can allow for a specific diagnosis, providing important information for treatment and prognosis. This review discusses genes in which abnormalities are known to cause neonatal lung disease and their associated phenotypes, and advantages and limitations of genetic testing.

show abstract

Genetic testing for diffuse lung diseases in children

Hamvas

Chaudhari

Nogee

2023

Pediatric Pulmonology

View full text Add to dashboard Cite

Newly developing genomic technologies are an increasingly important part of clinical care and thus, it is not only important to understand the technologies and their limitations, but to also interpret the findings in an actionable fashion. Clinical geneticists and genetic counselors are now an integral part of the clinical team and are able to bridge the complexities of this rapidly changing science between the bedside clinicians and patients. This manuscript reviews the terminology, the current technology, some of the known genetic disorders that result in lung disease, and indications for genetic testing with associated caveats. Because this field is evolving quickly, we also provide links to websites that provide continuously updated information important for integrating genomic technology results into clinical decision‐making.

show abstract

The past and future of genetics in pulmonary disease: You can teach an old dog new tricks

Cited by 3 publications

References 15 publications

Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective

Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective

Genetic Testing for Neonatal Respiratory Disease

Genetic testing for diffuse lung diseases in children

Contact Info

Product

Resources

About