Rare Disease Advisor

18/10/2025

Leucine-rich repeat leucin-rich glioma inactivated 1 family member 4 (LGI4)-positive autoimmune nodopathy manifests as acute/subacute monophasic and chronic progressive/relapsing diseases, according to a new study that described the clinical spectrum, pathology, and mechanisms of the disease.

Read here: https://bit.ly/4n3Ru0l

The clinical features of LGI4-positive cases are more compatible with the reported characteristics of autoimmune nodopathy than CIDP.

18/10/2025

inhibition using manganese-loaded glucose-based carbon nanoparticles (GCNPs/Mn) significantly reduced endothelial damage and kidney injury in models of antineutrophil cytoplasmic antibody ( )-associated vasculitis ( ) glomerulonephritis, according to a study published in the Journal of Nanobiotechnology.

Read more: https://bit.ly/4hgQx3G

Manganese-loaded glucose-based carbon nanoparticles restored manganese superoxide dismutase activity, reducing renal injury in AAV.

18/10/2025

Chronic inflammatory demyelinating polyneuropathy ( ) comes with nerve pain, nasty treatments, and loss of mobility.

Jaimie Sheil, CIDP Contributor, shares she experience of living in a body she can't fully control.

Read the full article here: https://bit.ly/3WJmh80

17/10/2025

: “These patients look like spinal muscular atrophy, Pompe, limb-girdle muscular dystrophy or myasthenia gravis patients. So when they present in the clinic, it’s very rare that a physician would think TK2d.”

- Sarah Chang, PhD, US medical strategy lead for UCB Biopharma. Dr. Chang spoke Oct. 17 at ASHG - American Society of Human Genetics 2025 about thymidine kinase-2 deficiency (TK2d), a rare mitochondrial disease.

17/10/2025

could be linked to neurological conditions like chronic inflammatory demyelinating polyneuropathy ( ) and myasthenia gravis ( ), according to a recently published study in Neurology Journal.

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Dengue fever could be linked to neurological conditions, like CIDP and MG, a study found.

17/10/2025

Keyana Sullivan, Pompe Disease Contributor, discusses the struggle that comes along with adapting and coping with muscle deterioration.

"This is why I tell people who are recently diagnosed to start treatment as soon as possible, because the deterioration is slow, but it’s definite. My transition into using a breathing machine all day wasn’t as hard or depressing as everyone thinks. I think the best way to explain that is by comparing it to suffocating. However, ironically, my breathing machine wasn’t the hardest thing to cope with, it was just losing the ability to do everything."

Read more: https://bit.ly/3LfYcmF

17/10/2025

A new review article described the current evidence, molecular mechanisms, and future direction on monoclonal antibodies as therapeutic agents in autoimmune and neurodegenerative diseases of the central nervous system, including neuromyelitis optica spectrum disorder ( ).

Read more: https://bit.ly/3WIKviF

New review described current evidence, molecular mechanisms, and future direction on monoclonal antibodies in NMOSD.

17/10/2025

: “I don’t think it requires a lot of expertise. It just requires political will from leaders to care for children with sickle cell disease. At the end of the day, it still boils down to the fact that there is not enough money.”

- Oyesola Ojewunmi, PhD, a Nigerian senior research fellow in genomics at Queen Mary University of London. Dr. Ojewunmi spoke Oct. 16 at ASHG - American Society of Human Genetics in Boston about the widespread prevalence of sickle cell disease in Africa.

16/10/2025

appears to be a safe and effective long-term therapeutic alternative for patients with Lennox-Gastaut syndrome ( ), according to a recently published study in Epilepsy and Behaviour.

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Fenfluramine appears to be a safe and effective long-term therapeutic alternative for patients with Lennox-Gastaut syndrome (LGS).

16/10/2025

: “I was really surprised, along with the rest of the genetics community, when earlier this year the current administration eliminated the National Advisory Committee on Heritable Disorders in Newborns and Children. I think the most immediate impact right now is a lot of uncertainty.”

- Mary Hackbarth, a graduate student at the University of Maryland School of Medicine’s MD/Ph program, speaking Oct. 16 at ASHG - American Society of Human Genetics 2025 in Boston on newborn screening.

16/10/2025

is common among patients with primary biliary cholangitis ( ) and is under-treated, confirms a new study published in the scientific journal Annals of Hepatology - AoH.

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The assessment and management of primary-biliary cholangitis (PBC)-associated pruritus differs by the level of healthcare, a study found.

16/10/2025

: “There’s a lack of transparency about how long newborn screening data is stored, and who can access it. I think some parents can get upset if they aren’t aware what’s being done with their child’s data—and this might increase the chances of them potentially opting out.”

- Christina Del Greco, PhD, geneticist and former post-doctoral candidate at the University of Michigan, speaking about newborn screening at ASHG - American Society of Human Genetics 2025 in Boston.