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Making This A Land for You and Me
Photo from liner notes of the Folkways CD Today is International Rare Disease Day. In honor of the occasion, I’d like to pay tribute to a few real-life heroes whose struggles have forever changed the...
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Meet Alex—Before and After NIH Clinical Trial
Caption: Alex, then and now, with Dr. Goldbach-ManskyCredit: Kate Barton and Susan Bettendorf (NIH) Alex Barton recently turned 17. That’s incredible because Alex was born with a rare, often fatal...
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In Memory of Sam Berns
Sam Berns (center) with Cookie Monster and me at TEDMED 2012. This weekend, in a heartbreaking phone call from his parents, I learned of the death of Sam Berns, a courageous young man with...
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Shattering News: How Chromothripsis Cured a Rare Disease
Caption: Karyotype of a woman spontaneously cured of WHIM syndrome. These chromosome pairings, which are from her white blood cells, show a normal chromosome 2 on the left, and a truncated chromosome 2...
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LabTV: Young Scientist Curious About The Immune System
Welcome to LabTV! If you haven’t already, take a look at this video. I hope you will enjoy meeting the first young scientist featured in this brand new series that I’ve chosen to highlight on my blog....
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Molecular Answers Found for a Mysterious Rare Immune Disorder
Caption: Helping to solve a medical mystery. Top left, University of Utah’s Harry Hill; Bottom, CVID patient Roma Jean Ockler; Right, Ockler showing the medication that helps to control her...
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Creative Minds: Can Diseased Cells Help to Make Their Own Drugs?
Matthew Disney Matthew Disney grew up in a large family in Baltimore in the 1980s. While his mother worked nights, Disney and his younger brother often tagged along with their father in these...
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Find and Replace: DNA Editing Tool Shows Gene Therapy Promise
Caption: This image represents an infection-fighting cell called a neutrophil. In this artist’s rendering, the cell’s DNA is being “edited” to help restore its ability to fight bacterial...
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Snapshots of Life: Picturing the Developing Windpipe
Randee Young and Xin Sun, University of Wisconsin–Madison The image above shows a small section of the trachea, or windpipe, of a developing mouse. Although it’s only about the diameter of a pinhead at...
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Rare Disease Mystery: Nodding Syndrome May Be Linked to Parasitic Worm
Caption: Village in the East Africa nation of UgandaCredit: Centers for Disease Control and Prevention In the early 1960s, reports began to surface that some children living in remote villages in East...
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Skin Health: New Insights from a Rare Disease
Courtesy of Keith Choate, Yale University School of Medicine, New Haven, CT Skin is the largest organ in the human body, yet we often take for granted all of the wonderful things that it does to keep...
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Huntington’s Disease: Gene Editing Shows Promise in Mouse Studies
My father was a folk song collector, and I grew up listening to the music of Woody Guthrie. On July 14th, folk music enthusiasts will be celebrating the 105th anniversary of Guthrie’s birth in his...
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Snapshots of Life: Muscling in on Development
Credit: Mary P. Colasanto, University of Utah, Salt Lake City Twice a week, I do an hour of weight training to maintain muscle strength and tone. Millions of Americans do the same, and there’s always a...
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Cool Videos: The Ghost in the Lab Dish?
As Halloween approaches, lots of kids and kids-at-heart will be watching out for ghosts and goblins. So, to help meet the seasonal demand for scary visuals, I’d like to share this award-winning image...
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Clinical Trials Bring Hope to Kids with Spinal Muscular Atrophy
Faith Fortenberry More than a decade ago, the NIH’s National Institute of Neurological Disorders and Stroke (NINDS) launched a special project to accelerate the translation of basic scientific...
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Creative Minds: Looking for Common Threads in Rare Diseases
Valerie ArboledaCredit: UCLA/Margaret Sison Photography Four years ago, Valerie Arboleda accomplished something most young medical geneticists rarely do. She helped discover a rare congenital disease...
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Progeria International Scientific Workshop
I enjoyed presenting some of my lab’s work at the Progeria Research Foundation’s 9th International Scientific Workshop and later meeting with some of the kids in attendance. Here, I got to sing a song...
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Biomedical Research Highlighted in Science’s 2018 Breakthroughs
A Happy New Year to one and all! While many of us were busy wrapping presents, the journal Science announced its much-anticipated scientific breakthroughs of 2018. In case you missed the announcement...
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More Progress Toward Gene Editing for Kids with Muscular Dystrophy
Caption: Muscles of untreated mouse model of Duchenne muscular dystrophy (left) compared to muscles of similar mice one year after gene-editing treatment (right). Dystrophin production (green) is...
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Thoughts from the Front Lines of Rare Disease Research
Harper Spero with physician-researcher Alexandra Freeman, who helps lead the Job’s syndrome research team at the NIH Clinical Center. Courtesy of Harper Spero. There are nearly 7,000 rare diseases,...
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