alpha-1-antitrypsin deficiency
Genetic disorderWikipedia
46
MENTIONS
8
EPISODES
6
PODCASTS
Search complete. 46 mentions across 8 episodes found for "alpha-1-antitrypsin deficiency".
Oct 16, 2026
From CT Scan to Caring for CF and Non-CF Bronchiectasis: Earlier Identification, Multidisciplinary Management, and Ongoing Clinical Trials
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24:27Anne O'DonnellHOST
You know, most of us will s-think strongly about testing for basic autoimmune abnormalities.
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24:33Anne O'DonnellHOST
Um, if the patient has, um, a coexistent emphysema, uh, we're gonna look for alpha-1 antitrypsin deficiency.
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24:41Anne O'DonnellHOST
That's a under-recognized cause of bronchiectasis.
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24:45Anne O'DonnellHOST
And if the patient has, um, severe extrapulmonary diseases, we're gonna look for immune deficiencies.
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29:31Anne O'DonnellHOST
He has a history of pancreatitis.
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29:33Anne O'DonnellHOST
Uh, the radiologist says he has primarily upper lobe bronchiectasis.
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29:38Anne O'DonnellHOST
Uh, which option is most appropriate here? Would you test for PCD by immunofluorescence? Would you test for alpha-1 deficiency, uh, and refer to a genetic counselor? Test for sweat chloride? Refer for genetic testing? Or test for antibodies, uh, to pneumococcal vaccine and refer to an immunologist? So go ahead and vote.
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30:00Anne O'DonnellHOST
[upbeat instrumental music] Okay, great.
From CT Scan to Caring for CF and Non-CF Bronchiectasis: Earlier Identification, Multidisciplinary Management, and Ongoing Clinical Trials
A
24:27Anne O'DonnellHOST
You know, most of us will s-think strongly about testing for basic autoimmune abnormalities.
A
24:33Anne O'DonnellHOST
Um, if the patient has, um, a coexistent emphysema, uh, we're gonna look for alpha-1 antitrypsin deficiency.
A
24:41Anne O'DonnellHOST
That's a under-recognized cause of bronchiectasis.
A
24:45Anne O'DonnellHOST
And if the patient has, um, severe extrapulmonary diseases, we're gonna look for immune deficiencies.
A
29:31Anne O'DonnellHOST
He has a history of pancreatitis.
A
29:33Anne O'DonnellHOST
Uh, the radiologist says he has primarily upper lobe bronchiectasis.
A
29:38Anne O'DonnellHOST
Uh, which option is most appropriate here? Would you test for PCD by immunofluorescence? Would you test for alpha-1 deficiency, uh, and refer to a genetic counselor? Test for sweat chloride, refer for genetic testing, or test for antibodies, uh, to pneumococcal vaccine and refer to an immunologist.
A
29:59Anne O'DonnellHOST
So go ahead and vote.
Ep. 391 - China deals, Beam lawsuit, MFN models, Nobel winners
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11:49Steve UsdinPANELIST
So Beam, Beam Therapeutics filed suit on September twenty-five in the US District Court for the District of Massachusetts.
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11:57Steve UsdinPANELIST
It alleges that its former scientist, Emma Wang, secretly co-founded Yoltec in July 2021, while she was still employed at Beam, and where she worked until January 2022, and that Yoltec illegally used Beam trade secrets to fuel its alpha-1 antitrypsin deficiency, AATD, program.
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12:18Steve UsdinPANELIST
The other defendants are Yoltech's CEO, Jensen Wu, Yoltech itself, and Serafa Bio, a new co that has licensed Yoltech's AATD therapy.
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12:29Steve UsdinPANELIST
Wang is CTO at Serafa.
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12:32Steve UsdinPANELIST
So there are some overlaps, right? Yol's product is an LNP delivered base editor that corrects the same mutation as Beam's product.
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14:21Steve UsdinPANELIST
She says Beam can't connect her alleged data access to any specific Yoltech invention.
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14:27Steve UsdinPANELIST
I think that could be critical if this goes to trial.
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14:30Steve UsdinPANELIST
And she says that Yoltech has contemporaneous R&D records tracing its work to develop its AATD therapy.
Case #35: Len (Pt. 2)
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1:19Lauren Bright PachecoHOST
[instrumental music] The last we heard from Len, he was flying over the handlebars of his mountain bike three months after receiving a miraculous lung transplant that saved his life.
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1:40Lauren Bright PachecoHOST
After having suffered for two decades with a rare genetic disorder called alpha-1 antitrypsin deficiency, also known as genetic emphysema, he had been given a new lease on life.
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1:51Lauren Bright PachecoHOST
He could finally breathe again.
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1:53Lauren Bright PachecoHOST
Len, who has always been someone to sprint out of the gate, had jumped back into active living with veracity, using his new lungs to their fullest extent.
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2:43Len GeigerGUEST
It was an absolute mess.
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2:46Lauren Bright PachecoHOST
Here is Dr.
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2:47Lauren Bright PachecoHOST
Mark Brantley, expert on pulmonary diseases and, in particular, alpha-1 antitrypsin deficiency.
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2:54Lauren Bright PachecoHOST
He was one of Len's doctors for many years.
Case #35: Len (Pt. 2)
L
1:29Lauren Bright PachecoHOST
The last we heard from Len, he was flying over the handlebars of his mountain bike three months after receiving a miraculous lung transplant that saved his life.
L
1:40Lauren Bright PachecoHOST
After having suffered for two decades with a rare genetic disorder called Alpha-1 antitrypsin deficiency, also known as genetic emphysema, he had been given a new lease on life.
L
1:51Lauren Bright PachecoHOST
He could finally breathe again.
L
1:53Lauren Bright PachecoHOST
Lynn, who has always been someone to sprint out of the gate, had jumped back into active living with veracity, using his new lungs to their fullest extent.
L
2:43Len GeigerGUEST
It was an absolute mess.
L
2:46Lauren Bright PachecoHOST
Here is Dr.
L
2:47Lauren Bright PachecoHOST
Mark Brantley, expert on pulmonary diseases and, in particular, Alpha-1 antitrypsin deficiency.
L
2:54Lauren Bright PachecoHOST
He was one of Len's doctors for many years.
Week in Review | Lilly's Retatrutide Dose Data, Novartis' RNA Deal & Jaypirca's Approval
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42:10Maya PatelHOST
Those protein levels come ahead of any lung or liver outcome.
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42:15Maya PatelHOST
From Alpha-1 to COPD.
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42:18Maya PatelHOST
Connect Biopharma's Rademicobart is an antibody against IL-4 receptor alpha, the receptor Dupixent targets.
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42:26Maya PatelHOST
Its phase two gave a single dose under the skin during a flare on top of standard care to 159 adults with high blood eosinophils.
Case #35: Len
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15:20Lauren Bright PachecoHOST
What was the diagnosis?
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15:22Len GeigerGUEST
She told me that I had Alpha-1 Antitrypsin Deficiency.
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15:25Lauren Bright PachecoHOST
Alpha-1 Antitrypsin Deficiency.
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15:26Len GeigerGUEST
And it's a genetic disorder that can cause emphysema.
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15:31Lauren Bright PachecoHOST
Alpha-1 Antitrypsin Deficiency, also known as genetic emphysema.
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15:37Lauren Bright PachecoHOST
Here is Dr.
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15:38Lauren Bright PachecoHOST
Mark Brantley, a professor emeritus at the University of Florida, with a specialty in pulmonary disease generally and Alpha-1 in particular.
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15:47Lauren Bright PachecoHOST
How would you define Alpha-1 Antitrypsin Deficiency?
Case #35: Len
L
15:20Lauren Bright PachecoHOST
What was the diagnosis?
L
15:22Len GeigerGUEST
She told me that I had alpha-1 antitrypsin deficiency, and it's a genetic disorder that can cause emphysema.
L
15:31Lauren Bright PachecoHOST
Alpha-1 antitrypsin deficiency, also known as genetic emphysema.
L
15:37Lauren Bright PachecoHOST
Here is Dr.
L
15:38Lauren Bright PachecoHOST
Mark Brantley, a professor emeritus at the University of Florida, with a specialty in pulmonary disease generally, and alpha-1 in particular.
L
15:47Lauren Bright PachecoHOST
How would you define alpha-1 antitrypsin deficiency?
M
15:52Mark BrantleySOUNDBITE_SPEAKER
It's a rare inherited disease that is associated with an increased risk of developing devastating emphysema and chronic obstructive pulmonary disease, as well also an increased risk of developing liver disease, particularly at the end cirrhosis or hepatocellular carcinoma.
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16:10Lauren Bright PachecoHOST
When did you first become acquainted with it?