Rare growth disorders are a diverse group of uncommon conditions that affect an individual’s physical development. They may stem from genetic mutations, hormonal imbalances, or other complex factors.
Rare diseases are defined as conditions affecting fewer than 200,000 people in the US or less than 1 in 2,000 in Europe. 1-2 While each disease is individually rare, collectively, they represent a ...
Minister Dr. Jitendra Singh says India is shifting to genomic healthcare. Through the 2021 Rare Disease Policy, the nation is ...
Rare diseases - a medical condition so obscure that even your doctor has to Google. Despite their name, these diseases collectively impact millions of Americans, creating a healthcare system that’s ...
Ongoing clinical research at UNC could lead to a first-of-its-kind enzyme replacement therapy for Hunter syndrome, an ...
More than 500 European patients with previously undiagnosed rare disorders received a genetic diagnosis through research carried out by an extensive European collaboration, the Solve-Rare Diseases ...
Amongst the political shockwaves that have to date characterized President Donald Trump’s first few weeks back in the Oval Office, it is likely to be the proposed changes to medical research funding ...
"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...
Noonan Syndrome, identified by Dr. Jacqueline A. Noonan, involves congenital heart defects and is linked to PTPN11 gene mutations. Cronkhite-Canada Syndrome, discovered by Dr. Wilma Jeanne Canada, is ...
When his infant son was diagnosed with a rare disease, a Canadian father was dismayed to discover there was no treatment or cure. So he set out to make one himself. Terry Pirovolakis, an IT director ...
Credit: Getty Images Some rare psychological disorders may occur so infrequently that most mental health professionals might never encounter them. Approximately 1 of every 5 adults in the United ...
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