http://radoir.org/en/wp-content/uploads/2019/04/Preliminary-Programme.pdf

http://radoir.org/en/wp-content/uploads/2019/04/3rd-joint-Congress-of-European-Neonatal-Societies.pdf

RADOIR’s board of directors had a meeting session with Dr. Namaki, the minister of health on Monday April 15th, 2019 at MOH – Iran to present RADOIR’s 10 year activity report .

Rare Diseases Societies joined greeting session at Rare Diseases Foundation of Iran for the Iranian new year and met with the chairman and the managing director of RADOIR

The Iranian minister of health authorized Tehran Medical University (TUMS) to establish the national strategic plan for rare diseases in cooperation with Rare Diseases Foundation of Iran

Using both CRISPR-Cas9 and base editor 3 (BE3) gene-editing tools, the team reduced cholesterol levels in healthy mice treated in utero by targeting a gene that regulates those levels. Also used prenatal gene editing to improve liver function and prevent neonatal death in a subgroup of mice that had been engineered with a mutation causing the lethal liver disease hereditary tyrosinemia type 1 (HT1).

The researchers were able to trace the origin of CAID by using Quebec’s BALSAC genealogical database. Their goal was to predict in which parts of the province the disease is most likely to appear in future generations, depending on the areas where there are the greatest numbers of carriers of the recessive gene that causes the disease. They believe this information may help the medical system save money on CAID testing in future.

In a study at seven hospitals across the UK and the USA, researchers found the brain scan, called magnetic resonance (MR) spectroscopy. Brain damage affects around one in 300 births in the UK, and is usually caused by oxygen deprivation.

Since it can take 5 to 7 years for a patient with a rare disease to receive an accurate diagnosis—which can be the gateway to appropriate treatments and access to life-saving clinical trials—a panel at this year’s National Organization of Rare Diseases’ Rare Diseases & Orphan Products Breakthrough Summit (NORD Summit) held in Washington, DC, delved into specific associated challenges and how providers might overcome them.

Researchers from The Rockefeller University recently uncovered the molecular mechanism which causes individuals with a rare skin condition to be susceptible to human papillomavirus (HPV).