DMD Features

Hagit Baris-Feldman

Israel Emerges as Global Powerhouse in Rare Disease Research

TEL AVIV, Israel — On the 6th floor of Schneider Children’s Hospital in the Tel Aviv suburb of Petah Tikva, 30 children with Alagille syndrome and 2 with lysosomal acid lipase deficiency (LAL-D) receive specialized treatment from a trio of pediatric hepatologists. Across town, at Sheba Medical Center’s Edmond and Lily Safra Children’s Hospital, pediatric…

Duchenne muscular dystrophy

Novel Myostatin Inhibitor Is a Potential Therapeutic Agent for Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a severe, X-linked recessive dystrophinopathy caused by mutations to the DMD gene which results in abnormal dystrophin production.1,2 The mainstay of pharmacologic therapy in patients with DMD is corticosteroid treatment, which is associated with improved survival, cardiovascular and orthopedic outcomes, motor function, strength, and pulmonary function.3,4 DMD is a devastating…

California Family’s Nonprofit ‘Joaquin’s Warriors’ Helps Fund Duchenne Research

SANTA CRUZ, California — Sara and Chris Aluffi make no secret of the disease that afflicts their 7-year-old son, Joaquin. In fact, a big banner stretching across the driveway of the Aluffi residence promotes their most fervent wish: a cure for Duchenne muscular dystrophy (DMD). To that end, Joaquin’s Warriors — the nonprofit group they…

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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. The virtual ceremony was hosted by John Whyte, MD, MPH, chief medical officer at WebMD, with commentary…

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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. Some 185 million people have been infected, and nearly 4…

Duchenne Muscular Dystrophy Fundraising

Duchenne Diagnosis of 2 Sons Inspires Miami Couple to Launch Massive Fundraising Effort

MIAMI — As president of Burger King Americas, Chris Finazzo oversees roughly 10,000 of the chain’s 18,000 fast-food outlets around the world.  But this 39-year-old restaurant executive’s biggest mission right now — and that of his wife, Susan — is finding a cure for the disease that afflicts their two sons, Chase and Dylan. Interviewed…

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