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7 articles from the last 7 days matching "genetic condition"

NewsRSS2 days ago

A tribute to a friend who taught us how to love, lead, and show up for others

A tribute was published honoring Timothy Chan, a young man with Duchenne muscular dystrophy who recently passed away from a respiratory illness. The article celebrates how he inspired others through his approach to life, leadership, and compassion. Duchenne muscular dystrophy is a serious genetic condition that weakens muscles over time, and respiratory complications are a common concern for people with this disease.

WHY IT MATTERSThis story highlights the real-world impact of Duchenne muscular dystrophy and the importance of respiratory monitoring and care, which is critical for patients with this progressive condition.
Good to knowDuchenne muscular dystrophyRead →
NewsRSS3 days ago

Seeing ‘Les Misérables’ reminds me of the arc of my own life with DMD

A person living with Duchenne muscular dystrophy (DMD) attended a performance of Les Misérables and reflected on how the musical's themes of second chances and perseverance mirror their own life journey with this progressive muscle disease. The article connects the emotional arc of the musical to personal experiences of living with a rare genetic condition. This is a personal perspective piece rather than medical news.

WHY IT MATTERSFor people with DMD, reading personal narratives from others living with the same condition can provide emotional support and help them feel less alone in their disease journey.
Good to knowDuchenne muscular dystrophyRead →
NewsUNITERARE4 days ago

Fund Update: PAN Foundation — Fabry disease Fabry disease fund is currently closed

The PAN Foundation's financial assistance program for Fabry disease patients is currently closed and not accepting new applications. Fabry disease is a rare genetic condition where the body can't break down certain fatty substances, causing problems in the heart, kidneys, and nerves. If you need help paying for Fabry disease treatment, you'll need to check back later or explore other assistance programs.

WHY IT MATTERSIf you have Fabry disease and were counting on PAN Foundation's copay assistance or medication support, you'll need to find alternative financial resources immediately since this program is not currently accepting applications.
👁 Watch this spaceFabry diseaseRead →
NewsUNITERARE4 days ago

Fund Update: PAN Foundation — Phenylketonuria Phenylketonuria fund is currently closed

The PAN Foundation's financial assistance program for phenylketonuria (PKU) — a rare genetic condition where the body can't break down a protein called phenylalanine — is currently closed. This program normally helps patients pay for treatment costs. The fund status changed on April 20, 2026.

WHY IT MATTERSIf you have PKU and were relying on PAN Foundation assistance to afford your medical care or special diet, you need to find alternative financial resources immediately since this program is no longer accepting applications.
You can act on thisPhenylketonuriaRead →
NewsUNITERARE4 days ago

Fund Update: PAN Foundation — Gaucher disease Gaucher disease fund is currently closed

The PAN Foundation's financial assistance program for Gaucher disease patients is currently closed and not accepting new applications. Gaucher disease is a genetic condition where the body can't break down certain fatty substances, causing organ damage. The PAN Foundation helps patients pay for medications and treatment costs when they can't afford them otherwise.

WHY IT MATTERSIf you have Gaucher disease and need help paying for your treatment, you'll need to find alternative financial assistance programs since this major funding source is temporarily unavailable.
Good to knowGaucher diseaseRead →
NewsUNITERARE4 days ago

Fund Update: PAN Foundation — Hereditary angioedema Hereditary angioedema fund is currently closed

The PAN Foundation's financial assistance program for hereditary angioedema (HAE) is currently closed and not accepting new applications. Hereditary angioedema is a rare genetic condition that causes sudden swelling in the face, throat, hands, feet, and digestive system. Patients who need help paying for HAE treatment should check back at the foundation's website or contact them directly to learn when the program might reopen.

WHY IT MATTERSIf you have hereditary angioedema and struggle to afford medications or treatment, this closed fund means you'll need to explore alternative financial assistance programs or payment plans with your healthcare provider right now.
👁 Watch this spacehereditary angioedemaRead →
Clinical trialCLINICALTRIALS4 days ago

Trial Now Recruiting: Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank (NCT02706639)

Williams syndrome is a rare genetic condition that affects about 1 in every 8,000 to 12,000 people. It happens when a person is missing a small section of DNA on chromosome 7, which includes the gene that makes elastin (a protein that helps blood vessels stretch). This causes distinctive facial features and heart and blood vessel problems. Researchers are now recruiting 1,099 people with Williams syndrome or a related heart condition called supravalvular aortic stenosis to donate DNA and tissue samples to help scientists better understand these conditions.

WHY IT MATTERSThis actively recruiting biobank offers Williams syndrome and SVAS patients a direct way to contribute DNA and tissue samples to NHLBI-sponsored research that could accelerate understanding of the genetic causes and lead to new treatments.
You can act on thisWilliams SyndromeSupravalvular Aortic StenosisRead →

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