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 ...

Lissencephaly is a spectrum of rare, genetic disorders in which the brain fails to develop its hallmark folds. The disorders are often associated with seizures and intellectual disability and ...

The genetic modification therapy market presents key opportunities in developing specialized treatments for rare, inherited, ...

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 ...

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 ...

| Servier is committing to rare neurology for the long term, using focused science and strategic collaborations to bring new ...