Could Genetic Studies Promote a Better Understanding of IPF?

Charlene Marshall avatar

by Charlene Marshall |

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In times of hardship, I’ve found nothing to be more valuable than human connection. After I was diagnosed in 2016 with idiopathic pulmonary fibrosis (IPF), a life-threatening and debilitating lung disease, it felt as though no one could relate. That changed when I started talking with other IPF patients.

Sharing our lived experiences provides both connection and insight. At the Pulmonary Fibrosis News Forums, the PF community can openly discuss the physical, emotional, and medical aspects of living with the disease.

One topic that greatly interests me is genetics, and it comes up frequently in the forums. For example, many IPF patients have shared that doctors didn’t bring up a possible genetic link when they were diagnosed. However, I was asked about any familial history of fibrotic lung disease, and my siblings were given the opportunity to see the specialist who diagnosed me.

Researchers are still learning about genetics and IPF, and I wonder what a better understanding of this relationship would tell us. Genetic studies have been used to predict the likelihood of someone developing certain conditions, and they also can help scientists develop targeted therapies more quickly and effectively.

Perhaps there is an opportunity for patients to help one another by contributing to this research.

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Research is underway

Several studies have already begun investigating the relationship between IPF and genetics. I can’t endorse any of them, but the research seems promising.

In 2019, the Global Biobank Meta-analysis Initiative united 19 biobanks across the world in seeking to gain a broader understanding of human health and genetics. Of the 2.1 million total research participants, more than 8,000 had IPF. I am curious and excited to see how the meta-analysis of their genetic information may improve disease understanding.

My interest has also been piqued by a research study sponsored by the genetic testing company 23andMe. 23andMe is doing a study to learn the underlying genetics behind idiopathic pulmonary fibrosis. Their goal is to contribute to the development of a more effective drug for those living with IPF. Your participation could be vital in reaching that goal.

Information collected in this study could shed light on factors that predispose people to IPF, potentially allowing doctors to conduct earlier screening for the disease. This would be beneficial, as we know that earlier diagnosis and treatment results in better outcomes for IPF patients.

A way to support the IPF community

Since I was unwillingly thrust into the world of IPF, I have pondered how to use my situation to help other patients. I am privileged to write this column, co-moderate the PF News Forums, and interact with many patients via email, but I have a burning desire to do more.

I ask myself questions such as, how can I make this disease easier on others? How can I share the knowledge I’ve gained? How can I contribute to eradicating IPF? After all, no one deserves to struggle with simply trying to breathe.

While it may not feel as direct, sharing my genetic information with researchers can indeed help other patients.

Many IPF patients have expressed concerns about their children or grandchildren also developing this cruel disease. While there are differing opinions about genetic factors, one way to address this fear and further scientific understanding is to contribute to genetics research.

Who knows? Perhaps our participation could help save future lives.

Note: Pulmonary Fibrosis News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Pulmonary Fibrosis News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to pulmonary fibrosis.


Therese Adams avatar

Therese Adams

Hi everyone
I'm hoping that I can join with you all to share and care our IPF journey!!!
We are stronger together ?

Charlene Marshall avatar

Charlene Marshall

Hi Therese,
Thanks so much for my columns and reaching out via the comments. If you aren't already a member, joining the PF forums is an excellent source of information and a great community to be connected to:

Take care,

Gisele F Lapointe avatar

Gisele F Lapointe

Hi Charlene. I am perfectly OK with sharing my genetic information because the subject is of great interests to. I am also Canadian, but living in the US. I was diagnosed with IPF at the age of 77 (I am now 85). The idea that IPF could be familial was brought up immediately upon the diagnostic by my doctor and sure enough my younger brother, age 65, living in Canada, who had been dignosed with IPF a few months earlier, was awaiting a lung transplant (unfortunately he passed away before a compatible donor could be found). It problably has no bearing on the IPF mutation but I am also a carrier of CF (my brother was not). I have no idea if my doctors have shared this information with researchers studying both of these diseases. By the way, I am doing well, probably because I have kept active in sports throughout my life, and I still walk 3 or 4 times a week. Of course, I get out of breath even doing household chores, but it is manageable. Thanks for reading me. The best of luck to you, fellow Canadian.

Charlene Marshall avatar

Charlene Marshall

Hi Gisele,

Thanks for reading my columns and reaching out via the comments, I appreciate hearing from you. I feel the same way you do about the genetic information sharing, as I personally believe, the benefits will help others in the future. Check out the study and participate if you're interested... since you're living in the US I think you'd qualify but I'm not sure, I can find out for you though if you'd like.

I'm glad to hear the possibility of a genetic link was raised upon diagnosis; that doesn't happen for a lot of people I'm understanding. I hope you continue to do well, kudos to you for keeping up with the housework despite shortness of breath.
Take care,

Ruth R. Grady avatar

Ruth R. Grady

My mother, older sister, younger sister and younger brother were all diagnosed with Familial Idiopathic Pulmonary Fibrosis.

My mother died at age 63, twenty-six years ago, before a name had even been given to IPF.

My older sister died at age 72, about 3-1/2 years ago. She lived with the disease for about four years.

My younger sister died at age 62, about 5 years ago. She lived with the disease for almost two years.

Neither of my sisters were candidates for a lung transplant.

My younger brother underwent a double lung transplant in San Antonio, Texas, about 3-1/2 years ago and is doing wonderfully. He is now 68 years of age. He was healthy otherwise, but his IPF progressed to the point of requiring a transplant only a little over a year, very soon after being diagnosed. He is doing very well since his double lung transplant 3-1/2 years ago. He is doing very well. He continues to work and is very conscientious about taking his numerous medications required to prevent rejection of his new lungs.

I am the only child/sibling not genetically predisposed with the genes resulting in my being stricken with Familial Idiopathic Pulmonary Fibrosis. I am extremely blessed.

I am 73 years of age, and I seem to have been the only one of five in my family who did not have the genetic makeup causing me to have Familial IPF.

Both of my sisters had pulmonologists in the Medical Center in Houston, and died in Houston.

My younger system died at age 62, about

Charlene Marshall avatar

Charlene Marshall

Hi Ruth,

Thank you so much for reading my columns and reaching out via the comments - I really appreciate hearing your story! It's examples like yours, though I am so sorry this hideous disease has impacted your family, which drives researchers to wanting to better understand this. I am really glad you aren't genetically predisposed to it too, that is a blessing! Take good care and thanks so much for sharing your family's story!

Joseph OHanlon avatar

Joseph OHanlon

Hi friends in PF News,
Especially Charlene and Gisele.
Thank you for starting this thread on the Genetic aspect of our disease.
I referred to my interest in my last entry on the thread on changing from OFEV to Esbriet.
The reason for my interest:-
I had my prliminary diagnosis, at the age of 71, in August 2013 with confirmation following a wedge section lung biopsy in December 2014. Then prescribed OFEV in April 2015.
My sister Shelagh (11 years my senior) was diagnosed in mid 2014 She died in late December 2015. I believe that I was an 'early' diagnosis as both my wife and I suffered pneumonia in February 2013. We believe that this may ha been following a bout of an 'Adenovirus' mutation that seemingly was about in the winter of 12 - 13. Whilst my wife Susan recovered reasonably quickly, my recovery was slow, and found any attempt to return to running / jogging training to be difficult. The follow-up showed my lungs had a much greater area of impairment than my wife.
Conversely, I believe that my sister was a late diagnosis, living a relatively sedentary lifestyle only diagnosed when the IPF started to restrict her activities. Although she was keen on Scottish County Dancing. I tried it with her but had difficulty remembering the patterns!
Had she lived longer I wanted to check if there was any genetic association between us and any known genetic mutations (?). But time was not on our side.
I think that I may be entering my last year and interested in any genetic markers that would give me, us, a susceptibility to IPF.
I recollect some years ago reading about a Japanese family that suffered a 'familial' link.
In thinking about this contribution, I did a bit of a search, and got bogged down in the following.
I have tried to give you the link, and copied in the abstract and some conclusions.
As Charlene said, we want to add to the knowledge in the hope of improving health for future sufferers.
I hope that you find it interesting. It does appear exceptionally complex. Regards, Joe
The link, I hope...... warning 23 pages plus refs.

Genetic links to IPF. Taken From the European Respiratory Journal, June 2015
The genetic basis of idiopathic pulmonary fibrosis
Jonathan A. Kropski, Timothy S. Blackwell, and James E. Loyd
Additional article information
Throughout the past decade, there have been substantial advances in understanding the pathogenesis of idiopathic pulmonary fibrosis (IPF). Recently, several large genome-wide association and linkage studies have identified common genetic variants in more than a dozen loci that appear to contribute to IPF risk. In addition, family-based studies have led to the identification of rare genetic variants in genes related to surfactant function and telomere biology, and mechanistic studies suggest pathophysiologic derangements associated with these rare genetic variants are also found in sporadic cases of IPF. Current evidence suggests that rather than existing as distinct syndromes, sporadic and familial cases of IPF (Familial Interstitial Pneumonia, FIP) likely reflect a continuum of genetic risk. Rapidly evolving bioinformatic and molecular biology techniques, combined with next-generation sequencing
From pages 22 & 23.
Take home idea
Emerging genetic studies offer new insights into the fundamental mechanisms of pulmonary fibrosis.
Novel ideas
Through the past decade, rapid advances in genetic and genomic technologies have begun to reshape our understanding of the “idiopathic” interstitial pneumonias. Genome-wide association studies have identified more than a dozen common genetic variants associated with IPF risk, and may be linked to altered disease progression and survival. Rare genetic variants in 8 genes have been implicated in familial interstitial pneumonia (FIP), the familial form of IPF, which broadly fall into two categories: genes related to surfactant protein processing and trafficking and those linked to telomere biology. In addition to genetic links, unique disease phenotypes based on transcriptomic changes have been identified. As we go forward, we anticipate that advances in these genetic and genomic technologies will result in a re-organization of the way we define and classify interstitial lung disease based on molecular characterization. As we evolve from a system of diagnosis based on histopathology to one based on a specific genetic/genomic signature reflecting the fundamental biology of the disease, there will be unique opportunities to develop and test therapies in specific patient populations based on the molecular profiles. Coupled with advances in detection of early disease, the coming decade offers an unprecedented opportunity to dramatically change the lives of patients with idiopathic pulmonary fibrosis.

Charlene Marshall avatar

Charlene Marshall

Hi Joseph,

Thanks for reading my columns and reaching out via the comments, it's lovely to hear from you. I appreciate hearing your thoughts, but so sorry to hear of your family's experience with this cruel disease and that yours is worsening. I'm not sure if you'd qualify for it, but you mentioned you'd like to better understand the genetic link to IPF. Did you see the link to the 23andMe study in the column? You could contribute that way if it would be helpful for you! Thanks for sharing additional information too.
Take care,


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