Rare Disease Advisor

29/12/2025

⭐ 5 Must-Read Feature Stories of 2025

These feature stories captured the voices, challenges, and progress shaping the rare disease community this year. As part of our 5 Days Left of 2025: A Year in Rare series, here are five features worth revisiting:

⭐MGFA Honors British Neurologist With First Lifetime Award for Groundbreaking MG Research
🔗: https://bit.ly/40EkW51
Myasthenia Gravis Foundation of America, Inc.,

⭐ A Kansas Man’s Lifelong Struggle With Limb-Girdle Muscular Dystrophy
🔗: https://bit.ly/3Y34PvW
Muscular Dystrophy Association

⭐ California Charity Helps Minorities, Undocumented Patients Access Vital Hemophilia Treatment
🔗: https://bit.ly/4aZ6E4B
The Hemophilia Foundation of Southern California

⭐ SMA Continues to Challenge Patients Who Couldn’t Be Treated Early in Infancy
🔗: https://bit.ly/4nwHzSL

⭐ GBS/CIDP Foundation Helps Promote Awareness of Rare Debilitating Neuropathy
🔗: https://bit.ly/44Wg1P1
GBS-CIDP Foundation International

28/12/2025

🧡 Patient Perspectives That Shaped 2025: Part 1

Throughout 2025, patients and caregivers shared their lived experiences—offering insight, honesty, and connection across the rare disease community.

Catch up withe patient perspective articles reflect the realities of diagnosis, care, resilience, and advocacy, and the power of storytelling in rare disease.

As part of our 5 Days Left of 2025 series, we’re revisiting these voices and the impact they continue to have.

💙What Caregiver Means When Living With MG
🔗: https://bit.ly/3MRXZXI

💙Expressing Myself to Others About LGMD
🔗: https://bit.ly/42B3aR3

💙Grieving My Life Before Cold Agglutinin Disease
🔗: https://bit.ly/47WriPI

💙 Why the Word “Care” Has New Meaning for Me
🔗: https://bit.ly/4pwCpGb

💙Tackling the Challenges of Living With an Invisible Disease
🔗: https://bit.ly/4jb4GjY

💙 Changes in Breathing Over a Lifetime With AATD
🔗: https://bit.ly/4screF5

💙A Beacon of Hope Found for the Future of Pompe Disease Treatment
🔗: https://bit.ly/4j2F9Jr

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27/12/2025

✨ Today marks the start of our “5 Days Left of 2025: A Year in Rare”!

Over the next 5 days, we’ll highlight the news, features, and stories that shaped the rare disease community in 2025—from breakthrough research to inspiring patient and advocate voices.

We’re kicking off with the top 5 news articles of 2025—stories that made the biggest impact this year. Stay tuned!

5️⃣ New Approach Could Help Evaluate Patients With CIDP
🔗: https://bit.ly/44CymQV

4️⃣ Effective Management of Takayasu Arteritis Complicated by GPP
🔗: https://bit.ly/3DJlg9R

3️⃣ Serum Transthyretin May Be a Prognostic Factor in ATTR-CM
🔗: https://bit.ly/4qbvuTi

2️⃣ First Subcutaneous Prophylaxis Approved for Hemophilia A or B With Inhibitors
🔗: https://bit.ly/4gG3bIs

1️⃣ Standardized Screening Strategy a Must for Autonomic Dysfunction in ATTR-CM
🔗: https://bit.ly/4h5Ljq9

26/12/2025

Differences in TP53 status fundamentally altered early cellular responses to decitabine in a model of (MDS), revealing molecular features that may contribute to resistance and identify actionable targets, according to a study published in the Journal of Cellular Biochemistry.

Read here:

TP53 mutation status strongly modifies early transcriptomic, proteomic, and methylation responses to decitabine in MDS models.

24/12/2025

Almost one-third of patients with aquaporin-4 antibody-positive (AQP4+) neuromyelitis optica spectrum disorder ( ) experience cognitive impairment, even in the absence of widespread brain damage detectable by advanced MRI, according to a new cross-sectional study.

Read more:

Research shows that a third of patients with NMOSD may be affected by cognitive impairment despite MRI showing largely preserved neural structures.

22/12/2025

The current standard of care for warm autoimmune hemolytic anemia ( ) requires significant use of health care resources, according to results presented at the 2025 American Society of Hematology (ASH) Annual Meeting.

Read more:

High health care resource use and inconsistent rituximab dosing practices highlight the need for standardized wAIHA treatment guidelines.

21/12/2025

A new phase 4 study is set to collect detailed information about the clinical features, outcomes, and management of indolent (SM), the most common subtype of SM.

The observational cohort study, sponsored by Blueprint Medicines, will also characterize the demographics, symptoms, quality of life, and disease control of patients with SM.

Read here: https://bit.ly/4s3Dis2

The observational cohort study will characterize the demographics, symptoms, quality of life, and disease control of patients with indolent SM.

21/12/2025

Neonatal platelets have a distinctly different glycan profile, marked by significantly higher α2,6-linked sialic acid and greater unmasking of galactose residues after desialylation, according to results from a recent study published in Blood (American Society of Hematology).

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

Neonatal platelets exhibit a distinct glycan profile, which may influence transfusion strategies and platelet survival.

21/12/2025

🩺 When your health depends on insurance, job loss hits differently.

Kristy Coleman, ITP contributor, shares her recent experience of being laid off—and the added stress of searching for new health insurance while managing a chronic illness.

"Knowing how reliant I am on doctors is a little sad and a bit scary, but this is the reality of it all. Being chronically ill is a beast of its own, and making sure we are getting the proper care is crucial."

Read the latest from Kristy: https://bit.ly/4s6j8NZ

20/12/2025

The U.S. Department of Health and Human Services (HHS) has added Duchenne muscular dystrophy ( ) to the Recommended Uniform Screening Panel (RUSP), the national list of conditions recommended for newborn screening.

Read more:

DMD’s addition to the Recommended Uniform Screening Panel may speed diagnosis and improve long-term outcomes for affected children.

20/12/2025

Both the incidence and tissue mosaicism in neurofibromatosis type 1 ( ) were associated with multiple exon deletions and specific single-nucleotide variants in NF1, a clinically actionable finding that reshapes reproductive counseling and the architecture of preimplantation genetic testing ( ) design and treatment, according to a study published in Human Reproduction (ESHRE - European Society of Human Reproduction and Embryology).

Read more:

Mosaicism was strongly linked to multiple exon deletions and select NF1 variants, informing reproductive counseling and planning.

20/12/2025

✍️ Finding catharsis through writing

Tara Keith, SM contributor, reflects on the 10-year journey to her diagnosis, her time at the Huntsman Cancer Institute, and the healing she’s found by sharing her story.

"We write to advocate for other people like us. We write to give comfort and hope to someone that’s walking in our shoes and doesn’t know what to do or where to go for help. For the caregivers that need the strength and support to continue helping those in need. We all must support each other in the rare disease community."

Read the latest from Tara➡️: https://bit.ly/4qkXGU0