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Rare Care Podcast

Browse Rare Disease Advisor’s engaging “Rare Care” podcast series, featuring interviews with leading researchers, stakeholders, and influencers within the rare disease community.

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Doctor and teenage girl

Facing Gender Bias, Women With Hemophilia Call for Equal Attention

Hemophilia is an inherited blood disorder traditionally thought to affect men only. However, it is now known that women may also suffer from the disease and even experience severe symptoms. Despite the current knowledge, women with hemophilia still encounter gender bias in medical diagnosis and treatment. "Females with hemophilia may go undiagnosed for years because…

Cholangiocarcinoma patient education

The Impact of Novel SMA Therapies on Respiratory Function

Arguably the aspect of novel therapies for spinal muscular atrophy (SMA) that deserves the most attention is their impact on respiratory muscles—in blunt terms, whether they allow patients to continue to breathe without external support. Although progressive muscle wasting and the eventual loss of mobility are the most prominent characteristics of SMA, it is the…

Adeno-associated viruses illustration

Gene Therapy in DMD: Why Is It so Difficult to Achieve a Cure?

Duchenne muscular dystrophy (DMD) is caused by loss-of-function variants in the dystrophin gene. Therefore, genetic approaches that aim to target the affected muscle cells and restore the disrupted reading frame of the dystrophin gene have curative potential. So, we know the defective gene that underlies DMD pathology and we live in an era of great…

AATD guidelines

An Appraisal of What We Know and Do Not Know About AATD

In medicine, as in life, it is important to take stock of what we know and what we do not know. Oprah Winfrey, the prominent US talk show host, is renowned for asking her guests the question, “What do you know for sure?” It is a potent question because in answering it honestly, the person…

thyroid ultrasound

Reflecting on a 5-Year Journey to My MTC Diagnosis

Editor's Note: In this Q&A, Patient Perspectives columnist Christine Pudel, RN, answers questions from her editor. A 30-year-old wife, mother to a son, and a registered nurse, Christine was diagnosed with medullary thyroid cancer (MTC) in 2016 and has undergone 2 surgeries, as well as radiation therapy. Her columns uniquely capture a life with MTC…

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