Hermansky-Pudlak Syndrome Pulmonary Fibrosis: Monogenic Disorder, Multi-Omics Discovery
@atscommunity.bsky.social #medsky
🔗 tinyurl.com/w7rc4cf5
@atscommunity.bsky.social #medsky
🔗 tinyurl.com/w7rc4cf5
February 11, 2026 at 5:54 PM
Hermansky-Pudlak Syndrome Pulmonary Fibrosis: Monogenic Disorder, Multi-Omics Discovery
@atscommunity.bsky.social #medsky
🔗 tinyurl.com/w7rc4cf5
@atscommunity.bsky.social #medsky
🔗 tinyurl.com/w7rc4cf5
Today is HPS Awareness Day, and last year I found out that I have not just albinism, but a rare type called Hermansky-Pudlak Syndrome that includes a host of other serious disorders. I’ve been at my first HPS Conference since Thursday and meeting so many wonderful folks in the HPS family 🐞
April 6, 2025 at 11:24 AM
Today is HPS Awareness Day, and last year I found out that I have not just albinism, but a rare type called Hermansky-Pudlak Syndrome that includes a host of other serious disorders. I’ve been at my first HPS Conference since Thursday and meeting so many wonderful folks in the HPS family 🐞
Choline and CCL22 Are Prognostic Blood Biomarkers for Hermansky-Pudlak Syndrome Pulmonary Fibrosis
@atscommunity.bsky.social #medsky
🔗 tinyurl.com/mr2nrzbz
@atscommunity.bsky.social #medsky
🔗 tinyurl.com/mr2nrzbz
February 25, 2026 at 9:26 PM
Choline and CCL22 Are Prognostic Blood Biomarkers for Hermansky-Pudlak Syndrome Pulmonary Fibrosis
@atscommunity.bsky.social #medsky
🔗 tinyurl.com/mr2nrzbz
@atscommunity.bsky.social #medsky
🔗 tinyurl.com/mr2nrzbz
How can you be so indifferent to the suffering of an entire family so inbred they all have Hermansky-Pudlak Syndrome?
August 19, 2025 at 5:02 PM
How can you be so indifferent to the suffering of an entire family so inbred they all have Hermansky-Pudlak Syndrome?
Impaired #platelet function in #Hermansky-Pudlak syndrome associated with novel #mutations in HPS3, HPS6 and HPS8 #genes | doi.org/10.4081/btvb... | #openaccess #MedSky #AcademicSky 🩸🧪⚕️👩🔬🔬
January 30, 2025 at 2:06 PM
Impaired #platelet function in #Hermansky-Pudlak syndrome associated with novel #mutations in HPS3, HPS6 and HPS8 #genes | doi.org/10.4081/btvb... | #openaccess #MedSky #AcademicSky 🩸🧪⚕️👩🔬🔬
Anandamide Is a Potential Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis.
https://doi.org/10.1164/rccm.202406-1143RL
https://doi.org/10.1164/rccm.202406-1143RL
Anandamide Is a Potential Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis.
Published in American journal of respiratory and critical care medicine
doi.org
January 23, 2025 at 8:00 AM
Anandamide Is a Potential Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis.
https://doi.org/10.1164/rccm.202406-1143RL
https://doi.org/10.1164/rccm.202406-1143RL
As I settle in to my new normal and CALM DOWN I’m going to be doing some fundraising through my games and art. I hope my pals will support me when that time comes by spreading the word and sharing links. (If you want to go ahead without me, start here! www.hpsnetwork.org)
Home | Hermansky-Pudlak Syndrome Network
What is HPS? Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder, characterized by albinism, visual impairment, and a platelet dysfunction that ...
www.hpsnetwork.org
June 13, 2024 at 1:36 PM
As I settle in to my new normal and CALM DOWN I’m going to be doing some fundraising through my games and art. I hope my pals will support me when that time comes by spreading the word and sharing links. (If you want to go ahead without me, start here! www.hpsnetwork.org)
Hermansky-Pudlak Syndrome (HPS) is a rare genetic disorder with symptoms like albinism, visual impairment, and bleeding issues, and risks such as pulmonary fibrosis and colitis.
4/6 is #HPS Awareness Day. www.hpsnetwork.org
You may be rare, but you are not alone!
#rareDisease #rareDiseaseAwareness
4/6 is #HPS Awareness Day. www.hpsnetwork.org
You may be rare, but you are not alone!
#rareDisease #rareDiseaseAwareness
April 6, 2025 at 2:00 PM
Hermansky-Pudlak Syndrome (HPS) is a rare genetic disorder with symptoms like albinism, visual impairment, and bleeding issues, and risks such as pulmonary fibrosis and colitis.
4/6 is #HPS Awareness Day. www.hpsnetwork.org
You may be rare, but you are not alone!
#rareDisease #rareDiseaseAwareness
4/6 is #HPS Awareness Day. www.hpsnetwork.org
You may be rare, but you are not alone!
#rareDisease #rareDiseaseAwareness
ASCI member Lisa Young et al. identify a potential therapeutic target for early intervention of fibrotic disease Hermansky-Pudlak syndrome. https://insight.jci.org/articles/view/183483
February 13, 2025 at 4:17 PM
ASCI member Lisa Young et al. identify a potential therapeutic target for early intervention of fibrotic disease Hermansky-Pudlak syndrome. https://insight.jci.org/articles/view/183483
Anandamide Is a Potential Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
This study suggests that circulating anandamide levels begin to increase with the fibrotic lung process even at subclinical stages
@resatcinar.bsky.social #medsky
🔗 tinyurl.com/2p9nrru7
This study suggests that circulating anandamide levels begin to increase with the fibrotic lung process even at subclinical stages
@resatcinar.bsky.social #medsky
🔗 tinyurl.com/2p9nrru7
April 18, 2025 at 4:55 PM
Anandamide Is a Potential Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
This study suggests that circulating anandamide levels begin to increase with the fibrotic lung process even at subclinical stages
@resatcinar.bsky.social #medsky
🔗 tinyurl.com/2p9nrru7
This study suggests that circulating anandamide levels begin to increase with the fibrotic lung process even at subclinical stages
@resatcinar.bsky.social #medsky
🔗 tinyurl.com/2p9nrru7
Hoy estaré en la Fundación Jiménez Díaz donde participaré en la II Jornada de pacientes con trastornos plaquetarios congénitos. El #albinismo sindrómico, Hermansky-Pudlak Syndrome (HPS), una condición genética muy rara (excepto en Puerto Rico) cursa también con trastornos de coagulación.
October 3, 2025 at 5:57 AM
Hoy estaré en la Fundación Jiménez Díaz donde participaré en la II Jornada de pacientes con trastornos plaquetarios congénitos. El #albinismo sindrómico, Hermansky-Pudlak Syndrome (HPS), una condición genética muy rara (excepto en Puerto Rico) cursa también con trastornos de coagulación.
Our research shows endocannabinoid anandamide in blood has biomarker functions in Hermansky-Pudlak syndrome. It not only captures early stage fibrosis progression in lung but also informs on therapeutic efficacy for CB1R antagonism.This may help to design effective anti-fibrotic therapy for #HPSPF
Anandamide Is a Potential Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
This study suggests that circulating anandamide levels begin to increase with the fibrotic lung process even at subclinical stages
@resatcinar.bsky.social #medsky
🔗 tinyurl.com/2p9nrru7
This study suggests that circulating anandamide levels begin to increase with the fibrotic lung process even at subclinical stages
@resatcinar.bsky.social #medsky
🔗 tinyurl.com/2p9nrru7
June 9, 2025 at 11:06 PM
Our research shows endocannabinoid anandamide in blood has biomarker functions in Hermansky-Pudlak syndrome. It not only captures early stage fibrosis progression in lung but also informs on therapeutic efficacy for CB1R antagonism.This may help to design effective anti-fibrotic therapy for #HPSPF
This little girl is my whole world. She has Occular Albinims and HPS6 (Hermansky Pudlak Syndrom) she is why I try to be a better human. She is super loyal, sticks up for her friend, but she will also smack you down if you are not a nice human.
Be kind and be like Bonnie ❤️
Be kind and be like Bonnie ❤️
January 8, 2025 at 3:36 AM
This little girl is my whole world. She has Occular Albinims and HPS6 (Hermansky Pudlak Syndrom) she is why I try to be a better human. She is super loyal, sticks up for her friend, but she will also smack you down if you are not a nice human.
Be kind and be like Bonnie ❤️
Be kind and be like Bonnie ❤️
So this year for IAAD I want to call attention to HPS and the HPS Network. The work they’ve done for the last 30+ has been critical in raising awareness, saving lives, and giving folks like me a resource to turn to when our whole world changes in an instant. www.hpsnetwork.org
Home | Hermansky-Pudlak Syndrome Network
What is HPS? Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder, characterized by albinism, visual impairment, and a platelet dysfunction that ...
www.hpsnetwork.org
June 13, 2024 at 1:36 PM
So this year for IAAD I want to call attention to HPS and the HPS Network. The work they’ve done for the last 30+ has been critical in raising awareness, saving lives, and giving folks like me a resource to turn to when our whole world changes in an instant. www.hpsnetwork.org
Cryo-EM structure of the BLOC-3 complex provides insights into the pathogenesis of Hermansky-Pudlak syndrome pubmed.ncbi.nlm.nih.gov/40140412/ #cryoem
March 29, 2025 at 12:57 AM
Cryo-EM structure of the BLOC-3 complex provides insights into the pathogenesis of Hermansky-Pudlak syndrome pubmed.ncbi.nlm.nih.gov/40140412/ #cryoem
On my reading list for the weekend:
Human respiratory airway progenitors derived from pluripotent cells generate alveolar epithelial cells and model pulmonary fibrosis | @naturebiotech.bsky.social
With some intruiging insights into Heřmanský–Pudlák Syndrome
www.nature.com/articles/s41...
Human respiratory airway progenitors derived from pluripotent cells generate alveolar epithelial cells and model pulmonary fibrosis | @naturebiotech.bsky.social
With some intruiging insights into Heřmanský–Pudlák Syndrome
www.nature.com/articles/s41...
Human respiratory airway progenitors derived from pluripotent cells generate alveolar epithelial cells and model pulmonary fibrosis - Nature Biotechnology
Human pluripotent cells are differentiated into lung progenitors and alveolar type 1 cells.
www.nature.com
February 28, 2025 at 6:29 AM
On my reading list for the weekend:
Human respiratory airway progenitors derived from pluripotent cells generate alveolar epithelial cells and model pulmonary fibrosis | @naturebiotech.bsky.social
With some intruiging insights into Heřmanský–Pudlák Syndrome
www.nature.com/articles/s41...
Human respiratory airway progenitors derived from pluripotent cells generate alveolar epithelial cells and model pulmonary fibrosis | @naturebiotech.bsky.social
With some intruiging insights into Heřmanský–Pudlák Syndrome
www.nature.com/articles/s41...
Good luck. For 10 years doctors refused a test for Hermansky Pudlak Syndrome because “You can’t have that, it’s a Puerto Rican thing”.
In 2017 I was tested, positive.
In 2023 I was tested again, different test. Positive.
Diagnosis changed my life, probably saved it too.
In 2017 I was tested, positive.
In 2023 I was tested again, different test. Positive.
Diagnosis changed my life, probably saved it too.
December 16, 2024 at 11:18 PM
Good luck. For 10 years doctors refused a test for Hermansky Pudlak Syndrome because “You can’t have that, it’s a Puerto Rican thing”.
In 2017 I was tested, positive.
In 2023 I was tested again, different test. Positive.
Diagnosis changed my life, probably saved it too.
In 2017 I was tested, positive.
In 2023 I was tested again, different test. Positive.
Diagnosis changed my life, probably saved it too.
I wonder if he's “a person with albinism.” It may be showing more in his old age. They've got a list of things that come with Hermansky-Pudlak syndrome (HPS) which includes bowl diseases, poor sight, as well as a few other things. my.clevelandclinic.org/health/disea... Just asking, no diagnosis.
Albinism
Albinism is a rare genetic condition that affects the amount of melanin your body produces. Learn more about this genetic disorder.
my.clevelandclinic.org
May 7, 2025 at 4:28 AM
I wonder if he's “a person with albinism.” It may be showing more in his old age. They've got a list of things that come with Hermansky-Pudlak syndrome (HPS) which includes bowl diseases, poor sight, as well as a few other things. my.clevelandclinic.org/health/disea... Just asking, no diagnosis.
Dare to be Rare sales go directly to fund research for our partners, like the HPS Network. Learn more about Hermansky-Pudlak Syndrome at www.hpsnetwork.org and choose the HPS Network during checkout at daretoberare.org to help fund a cure! #DareToBeRare #RareDiseaseDay
February 28, 2025 at 3:21 PM
Dare to be Rare sales go directly to fund research for our partners, like the HPS Network. Learn more about Hermansky-Pudlak Syndrome at www.hpsnetwork.org and choose the HPS Network during checkout at daretoberare.org to help fund a cure! #DareToBeRare #RareDiseaseDay
Also, I hadn’t heard of Hermansky Pudlak Syndrome until 2007 (by which time I had both my kids). I was convinced I have it but it took 10 years to be tested. My daughter does not look like she has albinism but she’s always had bleeding issues eg spontaneous bleeding noses as a kid, like me.
August 29, 2026 at 9:37 PM
Also, I hadn’t heard of Hermansky Pudlak Syndrome until 2007 (by which time I had both my kids). I was convinced I have it but it took 10 years to be tested. My daughter does not look like she has albinism but she’s always had bleeding issues eg spontaneous bleeding noses as a kid, like me.
ASCI member Lisa Young et al. identify a potential therapeutic target for early intervention of fibrotic disease Hermansky-Pudlak syndrome. https://insight.jci.org/articles/view/183483
February 13, 2025 at 6:38 PM
ASCI member Lisa Young et al. identify a potential therapeutic target for early intervention of fibrotic disease Hermansky-Pudlak syndrome. https://insight.jci.org/articles/view/183483
About six weeks ago I got genetic screening results and was stunned to find out I don’t have bog-standard albinism but instead have something very rare called Hermansky-Pudlak Syndrome. (Type 1, in my case.) This syndrome includes albinism as a trait, but has a bunch of other stuff too.
June 13, 2024 at 1:34 PM
About six weeks ago I got genetic screening results and was stunned to find out I don’t have bog-standard albinism but instead have something very rare called Hermansky-Pudlak Syndrome. (Type 1, in my case.) This syndrome includes albinism as a trait, but has a bunch of other stuff too.
Want to celebrate my birth? September is Pulmonary Fibrosis Awareness Month, which is the lung condition I will develop. You could use these letters to write your congressional rep to support the SOAR Act, which will help give more people access to oxygen: www.hpsnetwork.org/legislative-...
September 22, 2024 at 12:16 AM
Want to celebrate my birth? September is Pulmonary Fibrosis Awareness Month, which is the lung condition I will develop. You could use these letters to write your congressional rep to support the SOAR Act, which will help give more people access to oxygen: www.hpsnetwork.org/legislative-...