Human Interest

Stem cell research

Researchers Exploring Multiple Mechanisms of Action for Treating AATD

Faron Schonfeld, a successful investment portfolio manager from Philadelphia, Pennsylvania, had for years suffered chronic coughing and sinus infections that only seemed to get worse. He was finally referred to a pulmonologist at National Jewish Health in Denver, Colorado.  That’s where he got the diagnosis: Schonfeld had alpha-1 antitrypsin deficiency (AATD, or simply alpha-1) —…

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Advocacy Groups, Scientists Lobby for Worldwide Newborn SMA Screening

When Gennadiy Ilyashenko’s daughter, Sophia, was born, she looked like a healthy, happy baby.  But after Sophia failed to meet certain milestones, like being able to sit up by herself, Ilyashenko took her to the family’s London, England pediatrician, who told him “she’s just a lazy baby, there’s nothing wrong with her.” Yet Sophia’s condition…

LAL-D therapy 4 brothers

LAL-D Therapy Proves to Be a Lifesaver for 4 Michigan Brothers With the Rare Disease

Lysosomal acid lipase deficiency (LAL-D) affects fewer than 1 in 50,000 people. But when it comes to rare diseases, Michigan schoolteacher Rebecca Trendy seems to have hit the jackpot.  All 4 of her sons have LAL-D — an inherited liver disease that renders the body unable to digest fats. “It’s been quite the medical journey…

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NORD Recognizes Progress in Fight Against Rare Disease With 2021 Rare Impact Awards

Under COVID-19’s lingering shadow, the National Organization of Rare Disorders (NORD) has presented its 2021 Rare Impact Awards to 24 pharmaceutical firms, researchers, politicians, and nonprofit groups for their efforts over the past year on behalf of patients with such illnesses.

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FDA, CDC Urge COVID-19 Vaccines for Rare Disease Patients on NORD Webinar

As the super-contagious Delta variant of COVID-19 sweeps across the globe, driving up infection rates as well as deaths, top US health officials are urging everyone 12 and older—including the country’s 30 million or so rare disease patients—to get vaccinated quickly.

PHA Europe

PHA Europe Assists Pulmonary Hypertension Patients in 27 Countries

Before his life got turned upside down, Gerald Fischer was a top manager at one of Europe’s largest tour operators, traveling the world on behalf of leading Austrian celebrities while running his family’s thriving liquor business as a fifth-generation distiller. Everything changed in 1998, the year Fischer’s frail 3-year-old daughter Maleen was diagnosed with pulmonary…

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