Gene therapy may be 'one-shot stop' for rare bone disease
For the last 10 years, the only effective treatment for hypophosphatasia (HPP) has been an enzyme replacement therapy that ...
Our Doctor Asked if We Wanted Kids. What He Said Left Us Speechless
During a routine test, Johnny's middle school nurse discovered his severe scoliosis, a prevalent symptom of Marfan. This unexpectedly set his family on a path to uncover his underlying diagnosis at ...
WPLG4d
New tech helps women living with Marfan syndrome learn if pregnancy is safe
Deciding to start a family is a big decision for any couple, but it’s even more nerve-wracking when the mom-to-be has a ...
Johns Hopkins Medicine10d
Cushing's Syndrome
What is Cushing's syndrome? Cushing's syndrome is a hormonal disorder. It’s caused when you have high levels of the hormone cortisol over a long time. Cushing's syndrome is fairly rare. It most often ...
Smithsonian Magazine18d
Why Is Every Human Being Riddled With Genetic Errors?
Your body is a collection of cells carrying thousands of genetic mistakes accrued over a lifetime—many harmless, some bad and ...
Medical Xpress19d
Surprising way that genetic mutation causes Huntington's disease changes understanding of the disorder
More than 50 human brain disorders, including fragile X syndrome and myotonic dystrophy, are caused by expansions of DNA repeats in various genes. "It's going to take much scientific work by many ...
Harvard Medical School19d
New Understanding of How Genetic Mutation Causes Huntington’s Disease
For 30 years, researchers have known that Huntington’s disease is caused by an inherited mutation in the Huntingtin (HTT) gene in which a three-letter ... including fragile X syndrome, myotonic ...
Newsweek20d
Scientists and Doctors Reveal How Genes are Mapping Cures for Cancer
But Gounder had an idea: Perhaps Wolff's genes could point them in the right direction. Dr. Mrinal Gounder, a sarcoma medical oncologist at Memorial Sloan Kettering Cancer Center (MSK) in New York ...
Australian Broadcasting Corporation21d
Researchers find hundreds of new genetic variants linked to depression
Scientists have found 697 genetic variants – or small changes within a gene – linked to depression, of which almost 300 were previously unknown. A Queensland scientist described the project as ...
FierceBiotech21d
RegenXBio sells Hunter syndrome gene therapy's U.S., Asia commercial rights for $110M upfront
With an FDA approval submission for RegenXBio’s Hunter syndrome gene therapy already underway, the biopharma has now found a commercialization partner for both the U.S. and Asian markets.
BioPharma Dive21d
Regenxbio licenses gene therapies to Japan’s Nippon Shinyaku
The company is submitting the Hunter syndrome treatment for U.S. approval on a rolling basis, a process it expects to complete this quarter. An approval would make RGX-121 the first gene therapy for ...
Science Daily22d
Need for standardized measurement methods in gene therapy
Oct. 21, 2020 — Babies born with a faulty maternal copy of the UBE3A gene will develop Angelman syndrome, a severe neurodevelopmental disorder with no cure and limited treatments. Now, for the ...