Institute for Rare Diseases

Unique to Israel, the Institute for Rare Diseases in Israel is committed to supporting the diagnostic and treatment needs of rare disease patients and their families. The institute spearheads innovative research to enhance understanding of mechanisms in rare genetic diseases, while also aiming to raise awareness among the public and within diverse centres about the distinct requirements for treating rare diseases.

The institute, established in April 2014 in collaboration with the Safra Children's Hospital team, features an outpatient clinic and a research laboratory. It takes a multidisciplinary approach to complex rare genetic diseases and undiagnosed diseases, while cooperating closely with the team of experts in neurology, metabolic diseases, endocrinology, immunology, oncology, dermatology, cardiology and more.

What is a rare disease?

Rare diseases are typically chronic conditions that progress over time, many of which are hereditary and commonly impact children. In the European Union, a disease is considered rare if it affects fewer than one patient per 2,000 inhabitants, and in the United States, it's one patient for every 2,500 residents.

Why is it important to diagnose the cause of the rare disease?

Diagnosing the cause of the disease has many implications. For example, recently, a family contacted the institute about a girl who has had eating difficulties since birth. At the age of one, the girl was diagnosed with the very rare Costello syndrome. Children with this disease do indeed suffer from eating difficulties, but these improve over time, allowing parents to encourage them while continuing treatment. On the other hand, children with the disease are at increased risk of developing benign tumours. In this case, monitoring for early detection could save lives.

Diagnosis is a gateway for parents to learn about the syndrome, connecting with support groups globally and offering an escape from the isolation of the pre-diagnosis phase. Parents of a child with Costello syndrome are aware that the risk of another child suffering from the condition is around 2% and can opt for prenatal screening.

How is treatment provided?

Treatment of rare diseases saw a significant shift starting in 1983 when patient groups championed the "Orphan Drug Act" in the United States. Australia introduced a similar act in 1997, followed by Europe in 1999. Thanks to this act, that offers support and incentives to pharmaceutical companies for developing drugs to treat rare diseases, more medications began reaching the market. We are witnessing developments that enable, for example, enzyme replacement therapy (ERT) for diseases like Gaucher, Fabry, MPS II, MPS VI, MPS IV. At a conference held by the Institute in 2015, new therapeutic options were presented for patients with Fragile X, Angelman, Fabry, MPS, and more.

How did the Sheba Medical Center become involved in the treatment of rare diseases?

Sheba Medical Center recognized the needs of patients and families, and so sert up dedicated clinics that specialize in diagnosing, treating and dealing with a number of rare diseases: Ataxia-Telangectasia, Cystic Fibrosis, Familial Dysautonomia, Rett Syndrome, Angelmann Syndrome, Phenylketonuria, Fragile X Syndrome, Chromosome 22q11.2 Deletion Syndrome, Willems Syndrome.