Die Thymidinkinase-2-Defizienz (#TK2d) ist eine ultraseltene und lebensbedrohliche Erkrankung. Jetzt kann sie erstmals behandelt werden: pharma-fakten.de/news/forschu...
Forschung für die Ultraseltenen: Eine nicht behandelbare Krankheit behandelbar machen
Die Thymidinkinase-2-Defizienz (TK2d) ist eine ultraseltene und lebensbedrohliche Erkrankung. Jetzt kann sie erstmals behandelt werden.
pharma-fakten.de
September 17, 2026 at 8:00 AM
Die Thymidinkinase-2-Defizienz (#TK2d) ist eine ultraseltene und lebensbedrohliche Erkrankung. Jetzt kann sie erstmals behandelt werden: pharma-fakten.de/news/forschu...
‘𝐓𝐊𝟐𝐝 𝐚𝐜𝐫𝐨𝐬𝐬 𝐜𝐨𝐮𝐧𝐭𝐫𝐢𝐞𝐬: 𝐝𝐢𝐚𝐠𝐧𝐨𝐬𝐢𝐬, 𝐦𝐮𝐥𝐭𝐢𝐝𝐢𝐬𝐜𝐢𝐩𝐥𝐢𝐧𝐚𝐫𝐲 𝐜𝐚𝐫𝐞 𝐚𝐧𝐝 𝐭𝐡𝐞𝐫𝐚𝐩𝐞𝐮𝐭𝐢𝐜 𝐩𝐚𝐭𝐡𝐰𝐚𝐲𝐬’.
📍Online
📆 September 9th 2026 (tomorrow) at 2pm UK time
ℹ️ More info and registration here:
https://ow.ly/AzPZ50Zw4qQ
📍Online
📆 September 9th 2026 (tomorrow) at 2pm UK time
ℹ️ More info and registration here:
https://ow.ly/AzPZ50Zw4qQ
September 8, 2026 at 3:30 PM
‘𝐓𝐊𝟐𝐝 𝐚𝐜𝐫𝐨𝐬𝐬 𝐜𝐨𝐮𝐧𝐭𝐫𝐢𝐞𝐬: 𝐝𝐢𝐚𝐠𝐧𝐨𝐬𝐢𝐬, 𝐦𝐮𝐥𝐭𝐢𝐝𝐢𝐬𝐜𝐢𝐩𝐥𝐢𝐧𝐚𝐫𝐲 𝐜𝐚𝐫𝐞 𝐚𝐧𝐝 𝐭𝐡𝐞𝐫𝐚𝐩𝐞𝐮𝐭𝐢𝐜 𝐩𝐚𝐭𝐡𝐰𝐚𝐲𝐬’.
📍Online
📆 September 9th 2026 (tomorrow) at 2pm UK time
ℹ️ More info and registration here:
https://ow.ly/AzPZ50Zw4qQ
📍Online
📆 September 9th 2026 (tomorrow) at 2pm UK time
ℹ️ More info and registration here:
https://ow.ly/AzPZ50Zw4qQ
Austin Larson, Jared Goettemoeller, Ken Goettemoeller, Linda Goettemoeller, Amy Goldstein, Nikki Huggan, Amel Karaa, Megan Leahey, Fernando Scaglia, Philip Yeske, Zarazuela Zolkipli-Cunningham, and Michio Hirano
Progress and perspectives in primary mitochondrial myopathy: Highlights from the 2025 mitochondrial medicine masterclass with a focus on TK2 deficiency
The inaugural United Mitochondrial Disease Foundation (UMDF) Mitochondrial Medicine 2025 Masterclass focused on primary mitochondrial diseases (PMDs) especially primary mitochondrial myopathies (PMMs) and thymidine kinase 2 deficiency (TK2d). The Masterclass featured leading US experts in the field, providing the latest scientific and clinical knowledge, as well as patients and caregivers sharing their lived experience of mitochondrial diseases. In this report, we summarize the key highlights of...
journals.sagepub.com
September 7, 2026 at 10:00 AM
Austin Larson, Jared Goettemoeller, Ken Goettemoeller, Linda Goettemoeller, Amy Goldstein, Nikki Huggan, Amel Karaa, Megan Leahey, Fernando Scaglia, Philip Yeske, Zarazuela Zolkipli-Cunningham, and Michio Hirano
📣 Registration is now open for the webinar ‘𝐓𝐊𝟐𝐝 𝐚𝐜𝐫𝐨𝐬𝐬 𝐜𝐨𝐮𝐧𝐭𝐫𝐢𝐞𝐬: 𝐝𝐢𝐚𝐠𝐧𝐨𝐬𝐢𝐬, 𝐦𝐮𝐥𝐭𝐢𝐝𝐢𝐬𝐜𝐢𝐩𝐥𝐢𝐧𝐚𝐫𝐲 𝐜𝐚𝐫𝐞 𝐚𝐧𝐝 𝐭𝐡𝐞𝐫𝐚𝐩𝐞𝐮𝐭𝐢𝐜 𝐩𝐚𝐭𝐡𝐰𝐚𝐲𝐬’.
ℹ️ More info and registration here:
https://ow.ly/yaFn50Zw4qR
ℹ️ More info and registration here:
https://ow.ly/yaFn50Zw4qR
August 12, 2026 at 11:30 AM
📣 Registration is now open for the webinar ‘𝐓𝐊𝟐𝐝 𝐚𝐜𝐫𝐨𝐬𝐬 𝐜𝐨𝐮𝐧𝐭𝐫𝐢𝐞𝐬: 𝐝𝐢𝐚𝐠𝐧𝐨𝐬𝐢𝐬, 𝐦𝐮𝐥𝐭𝐢𝐝𝐢𝐬𝐜𝐢𝐩𝐥𝐢𝐧𝐚𝐫𝐲 𝐜𝐚𝐫𝐞 𝐚𝐧𝐝 𝐭𝐡𝐞𝐫𝐚𝐩𝐞𝐮𝐭𝐢𝐜 𝐩𝐚𝐭𝐡𝐰𝐚𝐲𝐬’.
ℹ️ More info and registration here:
https://ow.ly/yaFn50Zw4qR
ℹ️ More info and registration here:
https://ow.ly/yaFn50Zw4qR
Thymidine Kinase 2 Deficiency (TK2d) is a rare mitochondrial disorder causing progressive muscle weakness and respiratory failure in children and adults.
Learn more: https://dub.sh/TK2d
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
Learn more: https://dub.sh/TK2d
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
August 10, 2026 at 2:00 PM
Thymidine Kinase 2 Deficiency (TK2d) is a rare mitochondrial disorder causing progressive muscle weakness and respiratory failure in children and adults.
Learn more: https://dub.sh/TK2d
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
Learn more: https://dub.sh/TK2d
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
This is not saying it was easy- our half broken version of TK2D AssetRipper produces from the built game does NOT like it, and is throwing a MASSIVE hissy fit and being a PITA to get it to work lol.
August 5, 2026 at 3:33 AM
This is not saying it was easy- our half broken version of TK2D AssetRipper produces from the built game does NOT like it, and is throwing a MASSIVE hissy fit and being a PITA to get it to work lol.
Earn 1 CME credit with this on-demand ICNMD 2026 symposium. Watch Caterina Garone, Yolanda Cámara, and Cristina Domínguez González discuss thymidine kinase 2 deficiency (TK2d) pathophysiology, patient characterization and disease management, and real-world cases
https://ow.ly/wMCZ50ZrREr
https://ow.ly/wMCZ50ZrREr
July 27, 2026 at 2:01 PM
Earn 1 CME credit with this on-demand ICNMD 2026 symposium. Watch Caterina Garone, Yolanda Cámara, and Cristina Domínguez González discuss thymidine kinase 2 deficiency (TK2d) pathophysiology, patient characterization and disease management, and real-world cases
https://ow.ly/wMCZ50ZrREr
https://ow.ly/wMCZ50ZrREr
I hate TK2D. I hate TK2D.I hate TK2D. I hate TK2D. I hate TK2D. I hate TK2D. I hate TK2D. I hate TK2D.I hate TK2D.
Curse you Team Cherry for using abandonware in your game based off of a game that started development before the software is abandonware. (This is a joke, but fuck TK2D and abandonware)
Curse you Team Cherry for using abandonware in your game based off of a game that started development before the software is abandonware. (This is a joke, but fuck TK2D and abandonware)
July 22, 2026 at 1:50 AM
I hate TK2D. I hate TK2D.I hate TK2D. I hate TK2D. I hate TK2D. I hate TK2D. I hate TK2D. I hate TK2D.I hate TK2D.
Curse you Team Cherry for using abandonware in your game based off of a game that started development before the software is abandonware. (This is a joke, but fuck TK2D and abandonware)
Curse you Team Cherry for using abandonware in your game based off of a game that started development before the software is abandonware. (This is a joke, but fuck TK2D and abandonware)
Looking for #ICNMD2026 updates? Register to receive the on-demand recording of our EBAC‑accredited symposium on advancing TK2d management, with Caterina Garone, Yolanda Cámara, and Cristina Domínguez González discussing emerging evidence and real‑world practice
https://ow.ly/Cp3q50ZlAjx
https://ow.ly/Cp3q50ZlAjx
July 8, 2026 at 4:01 PM
Looking for #ICNMD2026 updates? Register to receive the on-demand recording of our EBAC‑accredited symposium on advancing TK2d management, with Caterina Garone, Yolanda Cámara, and Cristina Domínguez González discussing emerging evidence and real‑world practice
https://ow.ly/Cp3q50ZlAjx
https://ow.ly/Cp3q50ZlAjx
In the June issue of Brain Communications, researchers from @bcmgenetics.bsky.social, Columbia Medical Center, and global collaborators report that pyrimidine nucleos(t)ide therapy improves survival and functional outcomes in TK2d: pubmed.ncbi.nlm.nih.gov/42318512/
Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiency - PubMed
Thymidine kinase 2 deficiency (TK2d) (MIM 609560) is an ultra-rare, autosomal recessive mitochondrial myopathy caused by <i>TK2</i> variants, leading to mitochondrial DNA depletion and/or multiple del...
pubmed.ncbi.nlm.nih.gov
June 23, 2026 at 9:10 PM
In the June issue of Brain Communications, researchers from @bcmgenetics.bsky.social, Columbia Medical Center, and global collaborators report that pyrimidine nucleos(t)ide therapy improves survival and functional outcomes in TK2d: pubmed.ncbi.nlm.nih.gov/42318512/
Register to access the EBAC‑accredited recording of Medthority’s on‑demand symposium at #ICNMD2026. Hear Caterina Garone, Yolanda Cámara, and Cristina Domínguez González discuss TK2d disease mechanisms, emerging evidence, and real‑world practice
https://ow.ly/AyZH50Z1K69
https://ow.ly/AyZH50Z1K69
May 22, 2026 at 12:01 PM
Register to access the EBAC‑accredited recording of Medthority’s on‑demand symposium at #ICNMD2026. Hear Caterina Garone, Yolanda Cámara, and Cristina Domínguez González discuss TK2d disease mechanisms, emerging evidence, and real‑world practice
https://ow.ly/AyZH50Z1K69
https://ow.ly/AyZH50Z1K69
Connecting the thymidine kinase 2 deficiency (TK2d) community at #Euromit2026
The congress brings together experts in mitochondrial disease research.
As a Diamond sponsor, UCB will contribute to scientific exchange through sessions, a symposium and exhibition presence. 🤝
#TK2d #MitochondrialDisease
The congress brings together experts in mitochondrial disease research.
As a Diamond sponsor, UCB will contribute to scientific exchange through sessions, a symposium and exhibition presence. 🤝
#TK2d #MitochondrialDisease
May 18, 2026 at 6:43 AM
Connecting the thymidine kinase 2 deficiency (TK2d) community at #Euromit2026
The congress brings together experts in mitochondrial disease research.
As a Diamond sponsor, UCB will contribute to scientific exchange through sessions, a symposium and exhibition presence. 🤝
#TK2d #MitochondrialDisease
The congress brings together experts in mitochondrial disease research.
As a Diamond sponsor, UCB will contribute to scientific exchange through sessions, a symposium and exhibition presence. 🤝
#TK2d #MitochondrialDisease
From thymidine kinase 2 deficiency (TK2d) recognition to management
Diagnosis pathways are rarely linear and shaped by key clinical decisions.
At #Euromit2026, UCB joins scientific exchange on TK2d, through sessions, exhibition, and a symposium on the journey from recognition to disease management.💬
Diagnosis pathways are rarely linear and shaped by key clinical decisions.
At #Euromit2026, UCB joins scientific exchange on TK2d, through sessions, exhibition, and a symposium on the journey from recognition to disease management.💬
May 6, 2026 at 9:44 AM
From thymidine kinase 2 deficiency (TK2d) recognition to management
Diagnosis pathways are rarely linear and shaped by key clinical decisions.
At #Euromit2026, UCB joins scientific exchange on TK2d, through sessions, exhibition, and a symposium on the journey from recognition to disease management.💬
Diagnosis pathways are rarely linear and shaped by key clinical decisions.
At #Euromit2026, UCB joins scientific exchange on TK2d, through sessions, exhibition, and a symposium on the journey from recognition to disease management.💬
Catch up on the latest news from the Child Neurology Society (CNS), including a webinar, residency application updates, and a new Mission Partner supporting education in epilepsy and TK2d. Swipe through for details and click the link below to learn more: https://ow.ly/rJAt50YPw43
April 27, 2026 at 1:01 PM
Catch up on the latest news from the Child Neurology Society (CNS), including a webinar, residency application updates, and a new Mission Partner supporting education in epilepsy and TK2d. Swipe through for details and click the link below to learn more: https://ow.ly/rJAt50YPw43
Researchers recently developed a new system called #MitoPerturb-Seq that can systematically map cellular stress responses associated with specific genes related to #mtDNA maintenance.
Read more: https://bit.ly/4e54hib
#RareDisease #TK2d #MedSky
Read more: https://bit.ly/4e54hib
#RareDisease #TK2d #MedSky
Novel CRISPR-Based Platform Identifies Gene-Specific Stress Responses to mtDNA Depletion
Researchers developed a system that maps the cellular stress responses driven by specific mtDNA maintenance genes at single-cell resolution.
bit.ly
April 6, 2026 at 6:30 PM
Researchers recently developed a new system called #MitoPerturb-Seq that can systematically map cellular stress responses associated with specific genes related to #mtDNA maintenance.
Read more: https://bit.ly/4e54hib
#RareDisease #TK2d #MedSky
Read more: https://bit.ly/4e54hib
#RareDisease #TK2d #MedSky
The @ec.europa.eu has granted marketing authorization to #Doxecitine and #Doxribtimine (#Kygevvi®) under exceptional circumstances for the treatment of thymidine kinase 2 deficiency (#TK2d), pharmaceutical company UCB announced.
Read more: https://bit.ly/4tGA4uL
#RareDisease #MedSky
Read more: https://bit.ly/4tGA4uL
#RareDisease #MedSky
European Commission Approves Doxecitine and Doxribtimine as First Therapy for TK2d
The European Commission has approved doxecitine and doxribtimine, the first therapy for pediatric and adult patients with TK2d.
bit.ly
April 1, 2026 at 3:14 PM
The @ec.europa.eu has granted marketing authorization to #Doxecitine and #Doxribtimine (#Kygevvi®) under exceptional circumstances for the treatment of thymidine kinase 2 deficiency (#TK2d), pharmaceutical company UCB announced.
Read more: https://bit.ly/4tGA4uL
#RareDisease #MedSky
Read more: https://bit.ly/4tGA4uL
#RareDisease #MedSky
Feed: "PharmaTimes"
By: John Pinching on Tuesday, March 31, 2026
By: John Pinching on Tuesday, March 31, 2026
Kygevvi approved in Europe as first treatment for TK2d
European Commission authorises therapy for children and adults with early‑onset disease
pharmatimes.com
April 1, 2026 at 4:21 AM
Feed: "PharmaTimes"
By: John Pinching on Tuesday, March 31, 2026
By: John Pinching on Tuesday, March 31, 2026
Findings of a recent study published in Cell Death & Disease suggest deoxycytidine triphosphate pyrophosphatase 1 (#DCTPP1) is a key regulator of mitochondrial nucleotide homeostasis.
Read more: https://bit.ly/3Q9yQt8
#RareDisease #TK2d #MedSky
Read more: https://bit.ly/3Q9yQt8
#RareDisease #TK2d #MedSky
DCTPP1 May Be Promising Target for MNGIE, mtDNA Depletion Syndrome Similar to TK2d
DCTPP1 modulates dNTP pool balance, which is disrupted in TK2d and related syndromes, and shows promise as a therapeutic target in MNGIE.
www.rarediseaseadvisor.com
March 31, 2026 at 4:49 PM
Findings of a recent study published in Cell Death & Disease suggest deoxycytidine triphosphate pyrophosphatase 1 (#DCTPP1) is a key regulator of mitochondrial nucleotide homeostasis.
Read more: https://bit.ly/3Q9yQt8
#RareDisease #TK2d #MedSky
Read more: https://bit.ly/3Q9yQt8
#RareDisease #TK2d #MedSky
Thymidine Kinase 2 Deficiency (TK2d): European Commission approves doxecitine and doxribtimine (KYGEVVI®) as first and only treatment
UCB (Euronext Brussels: UCB), a global biopharmaceutical company, today announced that the European Commission (EC) has granted marketing authorization under…
UCB (Euronext Brussels: UCB), a global biopharmaceutical company, today announced that the European Commission (EC) has granted marketing authorization under…
Thymidine Kinase 2 Deficiency (TK2d): European Commission approves doxecitine and doxribtimine (KYGEVVI®) as first and only treatment
UCB (Euronext Brussels: UCB), a global biopharmaceutical company, today announced that the European Commission (EC) has granted marketing authorization under exceptional circumstances for KYGEVVI (doxecitine and doxribtimine) for the treatment of paediatric and adult patients with genetically confirmed thymidine kinase 2 deficiency (TK2d) with an age of symptom onset on or before 12 years.1 It is the first and only approved treatment for TK2d.
www.salutedomani.com
March 31, 2026 at 4:27 PM
Thymidine Kinase 2 Deficiency (TK2d): European Commission approves doxecitine and doxribtimine (KYGEVVI®) as first and only treatment
UCB (Euronext Brussels: UCB), a global biopharmaceutical company, today announced that the European Commission (EC) has granted marketing authorization under…
UCB (Euronext Brussels: UCB), a global biopharmaceutical company, today announced that the European Commission (EC) has granted marketing authorization under…
Patients in the #EU with rare disease #thymidinekinase2deficiency (TK2d) have their first approved therapy, #UCB's #Kygevi, after the #EuropeanCommission cleared the drug "under exceptional circumstances."
pharmaphorum.com/news/ucb-bri...
pharmaphorum.com/news/ucb-bri...
March 31, 2026 at 11:57 AM
Patients in the #EU with rare disease #thymidinekinase2deficiency (TK2d) have their first approved therapy, #UCB's #Kygevi, after the #EuropeanCommission cleared the drug "under exceptional circumstances."
pharmaphorum.com/news/ucb-bri...
pharmaphorum.com/news/ucb-bri...
From thymidine kinase 2 deficiency (TK2d) recognition to management
Diagnosis pathways are rarely linear and shaped by key clinical decisions.
At #Euromit2026, UCB joins scientific exchange on TK2d, through sessions, exhibition, and a symposium on the journey from recognition to disease management.💬
Diagnosis pathways are rarely linear and shaped by key clinical decisions.
At #Euromit2026, UCB joins scientific exchange on TK2d, through sessions, exhibition, and a symposium on the journey from recognition to disease management.💬
March 26, 2026 at 7:34 AM
From thymidine kinase 2 deficiency (TK2d) recognition to management
Diagnosis pathways are rarely linear and shaped by key clinical decisions.
At #Euromit2026, UCB joins scientific exchange on TK2d, through sessions, exhibition, and a symposium on the journey from recognition to disease management.💬
Diagnosis pathways are rarely linear and shaped by key clinical decisions.
At #Euromit2026, UCB joins scientific exchange on TK2d, through sessions, exhibition, and a symposium on the journey from recognition to disease management.💬
#ACMGMtg26: Researchers noted that TK1 may partially compensate for #TK2 deficiency in vitro, although its contribution to #mtDNA maintenance in this system remains unclear. @theacmg.bsky.social
Read more: https://bit.ly/4t0VcLP
#RareDisease #TK2d #MedSky
Read more: https://bit.ly/4t0VcLP
#RareDisease #TK2d #MedSky
In Vitro Assays Fail to Detect mtDNA Depletion for Pathogenic Variants Found in TK2d Patients
Researchers developed an in vitro assay for TK2 variants, but mtDNA depletion was minimal, highlighting challenges in modeling TK2d.
bit.ly
March 19, 2026 at 7:37 PM
#ACMGMtg26: Researchers noted that TK1 may partially compensate for #TK2 deficiency in vitro, although its contribution to #mtDNA maintenance in this system remains unclear. @theacmg.bsky.social
Read more: https://bit.ly/4t0VcLP
#RareDisease #TK2d #MedSky
Read more: https://bit.ly/4t0VcLP
#RareDisease #TK2d #MedSky