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alpha-1-antitrypsin deficiency

alpha-1-antitrypsin deficiency

Genetic disorderWikipedia

Search complete. 46 mentions across 8 episodes found for "alpha-1-antitrypsin deficiency".

Oct 16, 2026

Anne O'DonnellHOST
24:27
You know, most of us will s-think strongly about testing for basic autoimmune abnormalities.
Anne O'DonnellHOST
24:33
Um, if the patient has, um, a coexistent emphysema, uh, we're gonna look for alpha-1 antitrypsin deficiency.
Anne O'DonnellHOST
24:41
That's a under-recognized cause of bronchiectasis.
Anne O'DonnellHOST
24:45
And if the patient has, um, severe extrapulmonary diseases, we're gonna look for immune deficiencies.
Anne O'DonnellHOST
29:31
He has a history of pancreatitis.
Anne O'DonnellHOST
29:33
Uh, the radiologist says he has primarily upper lobe bronchiectasis.
Anne O'DonnellHOST
29:38
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.
Anne O'DonnellHOST
30:00
[upbeat instrumental music] Okay, great.
Anne O'DonnellHOST
24:27
You know, most of us will s-think strongly about testing for basic autoimmune abnormalities.
Anne O'DonnellHOST
24:33
Um, if the patient has, um, a coexistent emphysema, uh, we're gonna look for alpha-1 antitrypsin deficiency.
Anne O'DonnellHOST
24:41
That's a under-recognized cause of bronchiectasis.
Anne O'DonnellHOST
24:45
And if the patient has, um, severe extrapulmonary diseases, we're gonna look for immune deficiencies.
Anne O'DonnellHOST
29:31
He has a history of pancreatitis.
Anne O'DonnellHOST
29:33
Uh, the radiologist says he has primarily upper lobe bronchiectasis.
Anne O'DonnellHOST
29:38
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.
Anne O'DonnellHOST
29:59
So go ahead and vote.
Steve UsdinPANELIST
11:49
So Beam, Beam Therapeutics filed suit on September twenty-five in the US District Court for the District of Massachusetts.
Steve UsdinPANELIST
11:57
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.
Steve UsdinPANELIST
12:18
The other defendants are Yoltech's CEO, Jensen Wu, Yoltech itself, and Serafa Bio, a new co that has licensed Yoltech's AATD therapy.
Steve UsdinPANELIST
12:29
Wang is CTO at Serafa.
Steve UsdinPANELIST
12:32
So there are some overlaps, right? Yol's product is an LNP delivered base editor that corrects the same mutation as Beam's product.
Steve UsdinPANELIST
14:21
She says Beam can't connect her alleged data access to any specific Yoltech invention.
Steve UsdinPANELIST
14:27
I think that could be critical if this goes to trial.
Steve UsdinPANELIST
14:30
And she says that Yoltech has contemporaneous R&D records tracing its work to develop its AATD therapy.
Lauren Bright PachecoHOST
1:19
[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.
Lauren Bright PachecoHOST
1:40
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.
Lauren Bright PachecoHOST
1:51
He could finally breathe again.
Lauren Bright PachecoHOST
1:53
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.
Len GeigerGUEST
2:43
It was an absolute mess.
Lauren Bright PachecoHOST
2:46
Here is Dr.
Lauren Bright PachecoHOST
2:47
Mark Brantley, expert on pulmonary diseases and, in particular, alpha-1 antitrypsin deficiency.
Lauren Bright PachecoHOST
2:54
He was one of Len's doctors for many years.
Lauren Bright PachecoHOST
1:29
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.
Lauren Bright PachecoHOST
1:40
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.
Lauren Bright PachecoHOST
1:51
He could finally breathe again.
Lauren Bright PachecoHOST
1:53
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.
Len GeigerGUEST
2:43
It was an absolute mess.
Lauren Bright PachecoHOST
2:46
Here is Dr.
Lauren Bright PachecoHOST
2:47
Mark Brantley, expert on pulmonary diseases and, in particular, Alpha-1 antitrypsin deficiency.
Lauren Bright PachecoHOST
2:54
He was one of Len's doctors for many years.
Maya PatelHOST
42:10
Those protein levels come ahead of any lung or liver outcome.
Maya PatelHOST
42:15
From Alpha-1 to COPD.
Maya PatelHOST
42:18
Connect Biopharma's Rademicobart is an antibody against IL-4 receptor alpha, the receptor Dupixent targets.
Maya PatelHOST
42:26
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.
Lauren Bright PachecoHOST
15:20
What was the diagnosis?
Len GeigerGUEST
15:22
She told me that I had Alpha-1 Antitrypsin Deficiency.
Lauren Bright PachecoHOST
15:25
Alpha-1 Antitrypsin Deficiency.
Len GeigerGUEST
15:26
And it's a genetic disorder that can cause emphysema.
Lauren Bright PachecoHOST
15:31
Alpha-1 Antitrypsin Deficiency, also known as genetic emphysema.
Lauren Bright PachecoHOST
15:37
Here is Dr.
Lauren Bright PachecoHOST
15:38
Mark Brantley, a professor emeritus at the University of Florida, with a specialty in pulmonary disease generally and Alpha-1 in particular.
Lauren Bright PachecoHOST
15:47
How would you define Alpha-1 Antitrypsin Deficiency?
Lauren Bright PachecoHOST
15:20
What was the diagnosis?
Len GeigerGUEST
15:22
She told me that I had alpha-1 antitrypsin deficiency, and it's a genetic disorder that can cause emphysema.
Lauren Bright PachecoHOST
15:31
Alpha-1 antitrypsin deficiency, also known as genetic emphysema.
Lauren Bright PachecoHOST
15:37
Here is Dr.
Lauren Bright PachecoHOST
15:38
Mark Brantley, a professor emeritus at the University of Florida, with a specialty in pulmonary disease generally, and alpha-1 in particular.
Lauren Bright PachecoHOST
15:47
How would you define alpha-1 antitrypsin deficiency?
Mark BrantleySOUNDBITE_SPEAKER
15:52
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.
Lauren Bright PachecoHOST
16:10
When did you first become acquainted with it?

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