Diffuse intrinsic pontine glioma (DIPG) is a lethal pediatric brain cancer that often kills within a year of diagnosis. Surgery is almost impossible because of the location of the tumors. Chemotherapy has debilitating side ...
Apr 12, 2023
0
26
Scientists in Cambridge and Berlin have used a form of gene therapy to increase levels of the so-called "cold shock protein" in the brains of mice, protecting them against the potentially devastating impact of prion disease.
Mar 24, 2023
0
16
Columbia researchers have discovered how a genetic defect leads to spinal muscular atrophy (SMA), a critical piece of information about the disease that neurologists have been seeking for decades.
Mar 22, 2023
0
1443
Living organisms have a knack for persisting in the face of challenges. For instance, when genes malfunction, organisms may be able to compensate by activating redundant genes with similar functions, called paralogs.
Feb 21, 2023
0
54
Professor Megumu K. Saito and his colleagues have revealed that SMN, a protein involved in spinal muscular atrophy (SMA), promotes the functional maturation of mitochondria by regulating miRNA expression along with MYOD1 ...
Feb 17, 2023
0
33
Newborn screening (NBS) for spinal muscular atrophy (SMA), when combined with early treatment, results in better movement ability in affected children, including the ability to walk, when compared to children who are diagnosed ...
Jan 18, 2023
0
15
A number of new neurologic medications for diseases like multiple sclerosis (MS), Parkinson's disease and migraine have received U.S. Food and Drug Administration (FDA) approval over the past decade. However, with most having ...
Nov 30, 2022
0
2
Adopting some of the strategies behind successfully treating the childhood disease spinal muscular atrophy may enable development of therapies to curb the muscle decline that accompanies aging, new research suggests.
Nov 15, 2022
0
13
Spinal muscular atrophy (SMA), the most common form of neurodegenerative disease in childhood, is caused by defects in the SMN1 gene. SMA patients potentially benefit from three recently approved disease-modifying therapies. ...
Nov 7, 2022
0
14
There are numerous severe, difficult-to-treat monogenetic diseases that are caused by a defect in a single gene—also in the liver. These include the blood coagulation disorders hemophilia A or B or the metabolic disease ...
Oct 26, 2022
0
12
