Rare Diseases Europe, an alliance of over 800 rare disease patient organisations, is today urging Member States of the EU to take off the table the proposal of the Presidency of the EU Council to withdraw Article 7 of the current proposal for European cooperation on health technology assessment (HTA).

At a recent meeting of the Council of the International Society for Neonatal Screening, it was decided that the organization would present a plaque to Dr. Louis I Woolf recognizing his seminal contributions to the treatment of phenylketonuria, which made possible, and required the development of neonatal screening for maximum effectiveness.

Research Article By Dr. H. R. Edraki, RADOIR’s Managing Director: “ Fetal MRI in Early Diagnosis in Brain Disorders” Published By MRI International Book.

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).

Senator Hatch and Representatives Lance and Butterfield introduced a resolution that heralds the success of the Orphan Drug Act (ODA) and calls for continued support of the legislation.

This year marks the 35th anniversary for the ODA. That means 35 years of increased hope and treatments for the rare disease community. Prior to the ODA, there were only 34 therapies indicated to treat a rare disease. Now, there are over 700 and counting!

A university of Houston pharmaceutical scientist is developing a drug which could bring relief to children suffering with Familial Adenomatous Polyposis (FAP), a rare genetic disorder characterized by hundreds if not thousands of colorectal polyps. This hereditary cancer predisposition syndrome occurs in 3 per 100000 live births and, if left untreated, causes colorectal cancer in patients nearly 100 percent of the time. Prior medication for the diseases failed because it increased the risk of heart attacks and death.