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Rare disease News

Why gene therapy is set to transform medicine

Advances in gene therapy offer the possibility to transform medicine. These types of medicines were given their first market approvals in 2017, and since then sector growth has accelerated.

Broccoli can help counter a rare genetic disease

A low number of children around the world suffer with a rare disease called Hutchinson-Gilford Progeria syndrome. This condition leads to premature ageing and it is caused by a defective protein. A substance from broccoli may provide a treatment.

Rare genetic disease could hold the key to Ebola treatment

Scientists are investigating children with the fatal genetic disease Niemann-Pick Type C. This is to understand how mutations associated with the disease may protect against Ebola.

U.K. invests £230 million in disease research

London - The British government is to partner the Medical Research Council to develop new methods orientated towards identifying the causes of diseases such as cancer and dementia.

Study of zebrafish helps boy with rare disease

A study into zebrafish has helped identify the cause of an unknown genetic disorder affecting a boy and two of his uncles. Although no cure is imminent, the study could pave the way to alternative approaches for dealing with rare genetic diseases.

Rare disease drug gains approval

Sanofi’s biologics unit Genzyme has been granted approval for a new drug to treat the rare genetic disorder Gaucher’s disease.

Rare genetic disease discovered

Tel Aviv - Researchers in Israel have unraveled the genetic basis of a hereditary disease that causes severe brain atrophy, mental retardation and epilepsy in Jews of Moroccan ancestry.

Today is Rare Disease Day

Today, Feb 28, is the seventh Rare Disease Day. Rare Disease Day is an annual, awareness-raising event coordinated by EURORDIS at the international level and by National Alliances and Patient Organisations at the national level.

Swedish man dies of rare parrot fever, eight others infected

A man in the southern region of Sweden has died of parrot fever, a rare disease. Several people who spent time with the man during his illness are now also reported to have been infected.

3D printer makes magical WREX arms for children with rare disease

A 2-year-old-girl diagnosed with arthrogryposis multiplex congenita (AMC), a rare disease that cripples joints and limbs, is now able to use her hands. The newly-designed WREX jacket helps her lift her arms and hands to eat or hug someone.

Hemimelia and Its Relationship with Socialized Medicine

In Britain the disease hemimelia is a sentence of disfugurement, and living a life which will be much less than it shuld be for the children who are born with the disease. For one child it's real today.

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