teoria sobre a “síndrome de luka” ou
Leukodystrophy
Leukodystrophy
September 23, 2024 at 8:49 PM
teoria sobre a “síndrome de luka” ou
Leukodystrophy
Leukodystrophy
I was terrified of prions as a kid. I hope they solve monochromatic leukodystrophy next
February 5, 2025 at 1:00 AM
I was terrified of prions as a kid. I hope they solve monochromatic leukodystrophy next
This week, Secretary Kennedy approved adding Duchenne muscular dystrophy and metachromatic leukodystrophy to the Recommended Uniform Screening Panel for newborns, allowing earlier treatment and more hope for families.
December 18, 2025 at 8:30 PM
This week, Secretary Kennedy approved adding Duchenne muscular dystrophy and metachromatic leukodystrophy to the Recommended Uniform Screening Panel for newborns, allowing earlier treatment and more hope for families.
FDA Approves First Gene Therapy for Children with Metachromatic Leukodystrophy
For the treatment of children with pre-symptomatic late infantile, pre-symptomatic early juvenile or early symptomatic early juvenile metachromatic leukodystrophy (MLD).
www.fda.gov/news-eve...
For the treatment of children with pre-symptomatic late infantile, pre-symptomatic early juvenile or early symptomatic early juvenile metachromatic leukodystrophy (MLD).
www.fda.gov/news-eve...
FDA Approves First Gene Therapy for Children with Metachromatic Leukodystrophy
Lenmeldy is the first FDA-approved gene therapy to treat children with metachromatic leukodystrophy (MLD).
www.fda.gov
March 19, 2024 at 10:42 AM
FDA Approves First Gene Therapy for Children with Metachromatic Leukodystrophy
For the treatment of children with pre-symptomatic late infantile, pre-symptomatic early juvenile or early symptomatic early juvenile metachromatic leukodystrophy (MLD).
www.fda.gov/news-eve...
For the treatment of children with pre-symptomatic late infantile, pre-symptomatic early juvenile or early symptomatic early juvenile metachromatic leukodystrophy (MLD).
www.fda.gov/news-eve...
3/ Each state decides what they test for but HHS advises and provides data as to what’s highest yield. The most recent meeting was likely going to recommend adding muscular dystrophy and metacheomatic leukodystrophy.
April 22, 2025 at 1:29 AM
3/ Each state decides what they test for but HHS advises and provides data as to what’s highest yield. The most recent meeting was likely going to recommend adding muscular dystrophy and metacheomatic leukodystrophy.
Morbus Alexander betrifft
1 : 2,7 Millionen Einwohner
(laut einer Studie)
#RareDiseaseDay #leukodystrophy
1 : 2,7 Millionen Einwohner
(laut einer Studie)
#RareDiseaseDay #leukodystrophy
Neben allem anderen ist heute auch der #RareDiseaseDay wie immer am letzten Tag im Februar. Weltweit rund 300 Millionen Menschen sind von seltenen Krankheiten betroffen, es gibt einfach ziemlich viele davon. #NorrieSyndrom zum Beispiel, rund 3 von je 100.000 Geburten.
February 28, 2026 at 5:50 PM
Morbus Alexander betrifft
1 : 2,7 Millionen Einwohner
(laut einer Studie)
#RareDiseaseDay #leukodystrophy
1 : 2,7 Millionen Einwohner
(laut einer Studie)
#RareDiseaseDay #leukodystrophy
Thrilled to share our latest work "Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy" - a collaborative effort documenting the first cases of PPTC7 mutations in humans. 1/n
www.researchsquare.com/article/rs-8...
www.researchsquare.com/article/rs-8...
Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy
The mitochondrial phosphatase PPTC7 has emerged as a potent regulator of metabolism and mitophagy as its global knockout leads to perinatal lethality in mice. However, no known Mendelian diseases have...
www.researchsquare.com
February 19, 2026 at 6:20 PM
Thrilled to share our latest work "Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy" - a collaborative effort documenting the first cases of PPTC7 mutations in humans. 1/n
www.researchsquare.com/article/rs-8...
www.researchsquare.com/article/rs-8...
Today, Secretary Kennedy approved the addition of Duchenne Muscular Dystrophy (DMD) and Metachromatic Leukodystrophy (MLD) to the Recommended Uniform Screening Panel (RUSP) following scientific review and public comment.
December 17, 2025 at 12:02 AM
Today, Secretary Kennedy approved the addition of Duchenne Muscular Dystrophy (DMD) and Metachromatic Leukodystrophy (MLD) to the Recommended Uniform Screening Panel (RUSP) following scientific review and public comment.
Her remains will be going to a lab that studies leukodystrophy to help children with these conditions. Hopefully they can learn something that will help both those children and other dogs like her.
January 9, 2025 at 3:32 AM
Her remains will be going to a lab that studies leukodystrophy to help children with these conditions. Hopefully they can learn something that will help both those children and other dogs like her.
📣Online now!
📄Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
📄Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
We identify bi-allelic variants in the mitoribosomal large subunit encoded by MRPL49
as a cause of a pleiotropic presentation of hearing loss, ovarian failure, learning
disability, and leukodystrophy ...
www.cell.com
March 5, 2025 at 3:58 PM
📣Online now!
📄Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
📄Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
big pharma will be like "we love making drugs that save children's lives!" then charge $4.2 million for it
A lifesaving therapy for children with a rare disease is now the world’s most expensive drug, raising questions about access | CNN
A new gene therapy for the fatal genetic disorder metachromatic leukodystrophy, or MLD, will carry a wholesale price of $4.25 million, its manufacturer announced Wednesday, making it the world’s most ...
www.cnn.com
April 2, 2024 at 1:23 AM
big pharma will be like "we love making drugs that save children's lives!" then charge $4.2 million for it
Spatially resolved lipids in a mouse brain model of globoid cell leukodystrophy via IR-MALDESI MSI and parallel reaction monitoring MSI #ABC link.springer.com/article/10.1...
Spatially resolved lipids in a mouse brain model of globoid cell leukodystrophy via IR-MALDESI MSI and parallel reaction monitoring MSI - Analytical and Bioanalytical Chemistry
Globoid cell leukodystrophy (GLD) is a genetic neurodegenerative disease caused by mutations in galactosylceramide β-galactosidase (GALC) that results in the accumulation of the cytotoxic sphingolipid...
link.springer.com
January 23, 2026 at 9:05 PM
Spatially resolved lipids in a mouse brain model of globoid cell leukodystrophy via IR-MALDESI MSI and parallel reaction monitoring MSI #ABC link.springer.com/article/10.1...
Happy Disability Pride Month
This is a thread of my disability and my history and what have you.
This ain’t gonna be about me being nuerodivergent.
This is gonna be long, so buckle up
I have leukodystrophy, specifically a hypomeylinating leukodystrophy
🧵
1/x
This is a thread of my disability and my history and what have you.
This ain’t gonna be about me being nuerodivergent.
This is gonna be long, so buckle up
I have leukodystrophy, specifically a hypomeylinating leukodystrophy
🧵
1/x
July 29, 2023 at 10:59 PM
Happy Disability Pride Month
This is a thread of my disability and my history and what have you.
This ain’t gonna be about me being nuerodivergent.
This is gonna be long, so buckle up
I have leukodystrophy, specifically a hypomeylinating leukodystrophy
🧵
1/x
This is a thread of my disability and my history and what have you.
This ain’t gonna be about me being nuerodivergent.
This is gonna be long, so buckle up
I have leukodystrophy, specifically a hypomeylinating leukodystrophy
🧵
1/x
Go Diogo Go :) Great first #NeuroBioUK session finishing with our favourite #zebrafish model used to decipher the pathomechanisms of a new #leukodystrophy 😍
September 12, 2025 at 10:02 AM
Go Diogo Go :) Great first #NeuroBioUK session finishing with our favourite #zebrafish model used to decipher the pathomechanisms of a new #leukodystrophy 😍
Fantastic new study on the role of TMEM63a in oligodendrocyte-dependent myelination in the CNS from the Swetha Murthy lab: pubmed.ncbi.nlm.nih.gov/40694323/
TMEM63A, associated with hypomyelinating leukodystrophies, is an evolutionarily conserved regulator of myelination - PubMed
Infantile hypomyelinating leukodystrophy 19 (HLD19) is a rare genetic disorder where patients exhibit reduced myelin in central nervous system (CNS) white matter tracts and present with varied neurolo...
pubmed.ncbi.nlm.nih.gov
July 24, 2025 at 6:21 PM
Fantastic new study on the role of TMEM63a in oligodendrocyte-dependent myelination in the CNS from the Swetha Murthy lab: pubmed.ncbi.nlm.nih.gov/40694323/
HHS is adding Duchenne muscular dystrophy and metachromatic leukodystrophy to the Recommended Uniform Screening Panel (RUSP) for newborns.
Read more 📲https://www.newsweek.com/hhs-official-newborn-screening-saves-lives-and-empowers-families-opinion-11217094
Read more 📲https://www.newsweek.com/hhs-official-newborn-screening-saves-lives-and-empowers-families-opinion-11217094
December 17, 2025 at 5:51 PM
HHS is adding Duchenne muscular dystrophy and metachromatic leukodystrophy to the Recommended Uniform Screening Panel (RUSP) for newborns.
Read more 📲https://www.newsweek.com/hhs-official-newborn-screening-saves-lives-and-empowers-families-opinion-11217094
Read more 📲https://www.newsweek.com/hhs-official-newborn-screening-saves-lives-and-empowers-families-opinion-11217094
ICYMI: Secretary Kennedy expanded newborn baby screenings to include two rare diseases. This bold step will allow children from suffering Duchenne muscular dystrophy and Metachromatic Leukodystrophy to receive FDA-approved therapies faster.
Read more 📲 www.reuters.com/business/hea...
Read more 📲 www.reuters.com/business/hea...
December 22, 2025 at 3:50 PM
ICYMI: Secretary Kennedy expanded newborn baby screenings to include two rare diseases. This bold step will allow children from suffering Duchenne muscular dystrophy and Metachromatic Leukodystrophy to receive FDA-approved therapies faster.
Read more 📲 www.reuters.com/business/hea...
Read more 📲 www.reuters.com/business/hea...
My first post in the sky is a:
Job Alert!
We are looking for a PhD student to study astrocyte dysfunction in the rare neurological disease MLC. Looking for a challenge? See the job advertisement below!
werkenbij.amsterdamumc.org/en/vacatures...
Job Alert!
We are looking for a PhD student to study astrocyte dysfunction in the rare neurological disease MLC. Looking for a challenge? See the job advertisement below!
werkenbij.amsterdamumc.org/en/vacatures...
Vacatures - PhD Understanding and repairing astrocyte dysfunction in the leukodystrophy MLC - Amsterdam UMC
The Amsterdam Leukodystrophy Center is searching for a motivated PhD candidate, for a collaborative project on understanding astrocyte dysfunction in the leukodystrophy MLC.
werkenbij.amsterdamumc.org
November 19, 2024 at 7:56 PM
My first post in the sky is a:
Job Alert!
We are looking for a PhD student to study astrocyte dysfunction in the rare neurological disease MLC. Looking for a challenge? See the job advertisement below!
werkenbij.amsterdamumc.org/en/vacatures...
Job Alert!
We are looking for a PhD student to study astrocyte dysfunction in the rare neurological disease MLC. Looking for a challenge? See the job advertisement below!
werkenbij.amsterdamumc.org/en/vacatures...
Metachromatic leukodystrophy and Duchenne’s added to federal newborn screening recommendations
Federal government adds to genetic disorders to newborn screening guidelines
U.S. Health Secretary Robert F. Kennedy, Jr. signed a mandate Tuesday adding metachromatic leukodystrophy (MLD) and Duchenne Muscular Dystrophy to the Recommended Uniform Screening Panel.
buff.ly
December 16, 2025 at 10:33 PM
Metachromatic leukodystrophy and Duchenne’s added to federal newborn screening recommendations
www.aol.com/articles/dad...
Medical care for Augie Cowan's 17-year-old daughter Andrea, who has metachromatic leukodystrophy, can cost up to $20,000 a year
Medical care for Augie Cowan's 17-year-old daughter Andrea, who has metachromatic leukodystrophy, can cost up to $20,000 a year
Dad Loses Fight for Haunted House That Funds Hospice Care for Daughter with Rare Condition (Exclusive)
Medical care for Augie Cowan's 17-year-old daughter Andrea, who has metachromatic leukodystrophy, can cost up to $20,000 a year
www.aol.com
November 1, 2025 at 10:26 AM
www.aol.com/articles/dad...
Medical care for Augie Cowan's 17-year-old daughter Andrea, who has metachromatic leukodystrophy, can cost up to $20,000 a year
Medical care for Augie Cowan's 17-year-old daughter Andrea, who has metachromatic leukodystrophy, can cost up to $20,000 a year
Kennedy approves adding two rare disorders to newborn screenings reut.rs/4pJktJb
Kennedy approves adding two rare disorders to newborn screenings
U.S. Health Secretary Robert F. Kennedy Jr. on Tuesday added two rare genetic disorders, Duchenne Muscular Dystrophy and Metachromatic Leukodystrophy, to the federal newborn screening list to enable early treatment, the Department of Health and Human Services said.
reut.rs
December 17, 2025 at 2:30 AM
Kennedy approves adding two rare disorders to newborn screenings reut.rs/4pJktJb
My toddler has a rare genetic disorder called metachromatic leukodystrophy, also known as MLD. How can I help her live a good life while she’s still here?
Raising a Daughter Who Will Never Grow Up
My toddler has a rare genetic disorder called metachromatic leukodystrophy, also known as MLD. How can I help her live a good life while she’s still here?
www.thecut.com
September 8, 2026 at 11:09 AM
My toddler has a rare genetic disorder called metachromatic leukodystrophy, also known as MLD. How can I help her live a good life while she’s still here?
Today is #PurpleDay
Seizures often occur in children and adults with #leukodystrophy but not all seizures look the same.
Have you seen a seizure that didn’t look like shaking? Share this post to help spread the word.
https://alextlc.org/symptom/epilepsy-seizures/
#AlexTLC #EpilepsyAwareness
Seizures often occur in children and adults with #leukodystrophy but not all seizures look the same.
Have you seen a seizure that didn’t look like shaking? Share this post to help spread the word.
https://alextlc.org/symptom/epilepsy-seizures/
#AlexTLC #EpilepsyAwareness
March 26, 2026 at 8:01 AM
Today is #PurpleDay
Seizures often occur in children and adults with #leukodystrophy but not all seizures look the same.
Have you seen a seizure that didn’t look like shaking? Share this post to help spread the word.
https://alextlc.org/symptom/epilepsy-seizures/
#AlexTLC #EpilepsyAwareness
Seizures often occur in children and adults with #leukodystrophy but not all seizures look the same.
Have you seen a seizure that didn’t look like shaking? Share this post to help spread the word.
https://alextlc.org/symptom/epilepsy-seizures/
#AlexTLC #EpilepsyAwareness
I’m disabled
I have hypomelinatin’ leukodystrophy so I don’t walk right and have issues with balance
I also have a fucked up right knee
I have hypomelinatin’ leukodystrophy so I don’t walk right and have issues with balance
I also have a fucked up right knee
November 20, 2024 at 7:29 PM
I’m disabled
I have hypomelinatin’ leukodystrophy so I don’t walk right and have issues with balance
I also have a fucked up right knee
I have hypomelinatin’ leukodystrophy so I don’t walk right and have issues with balance
I also have a fucked up right knee