An HIV-derived nucleoside therapy now treats rare genetic diseases by restoring mitochondrial DNA and improving muscle ...
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 ...
Johns Hopkins Medicine laboratory scientists say they have developed a potential new way to treat a variety of rare genetic diseases marked by too low levels of specific cellular proteins. To boost ...
The n-Lorem Foundation and the EspeRare Foundation announced today a strategic collaboration to expand access in Europe to n-Lorem's antisense oligonucleotide (ASO) therapies for patients with rare ...
PacBio (NASDAQ: PACB), developer of the world's most advanced sequencing technologies, today announced plans to pursue a strategic collaboration with the n-Lorem Foundation and EspeRare that we ...
For the first time, doctors have treated a baby born with a rare, life-threatening genetic disorder with a gene-editing therapy scientists tailored to specifically repair his unique mutation. The baby ...
Morning Overview on MSN
Rare new diabetes type found in newborns worldwide
A rare form of diabetes is emerging in the very first weeks of life, reshaping how doctors think about blood sugar disorders in infants. Researchers tracking newborns on several continents are now ...
Half of all babies diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency die within their first week of life Getty KJ Muldoon was diagnosed with severe carbamoyl phosphate ...
While genetic testing may be diagnostic, ordering the tests requires physicians to consider the possibility of the illness first. Treatments Curative treatments are rare but available for diseases ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results
Feedback