STOP – FSGS

Speed Translation-Oriented Progress to Treat FSGS

Idiopathic (primary) FSGS is a rare disease affecting an estimated 2,000 people in Germany. Its secondary form represents a major cause for irreversible loss of renal function and life-long need for dialysis or transplantation.

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CONNECT-GENERATE

German Network for Research on Autoimmune Encephalitis

The research network CONNECT-GENERATE aims at improving the diagnosis and treatment of people with autoimmune encephalitis, a rare but treatable form of brain inflammation.

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Deutschlandkarte-Projektstandorte-hicholCopyright: LMU Klinikum

HIChol

Translational network for Hereditary Intrahepatic Cholestasis

Defective bile formation is referred to as cholestasis and can be caused by mutations in genes important for bile formation in the liver. Cholestasis as result of genetic variants is referred to as hereditary intrahepatic cholestasis and comprises a heterogeneous group of rare disorders.

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NEOCYST

Network of Early Onset Cystic Kidney Disease

Hereditary cystic kidney diseases are among the most common causes of chronic renal failure in children. As a multidisciplinary network of clinicians, geneticists and basic scientific researchers, NEOCYST is dedicated to the comprehensive research and improved care of patients.

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Deutschlandkarte-Projektstandorte-mypredCopyright: LMU Klinikum

MyPred

Network for young individuals with syndromes predisposing to myeloid malignancies

During the last decade, an increasing number of novel genetic disorders with predisposition to myeloid malignancy in young individuals has been identified. Like the inherited bone marrow failure syndromes, some of these disorders are associated with other organ dysfunction.

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TreatHSP.net

Translational research on Hereditary Spastic Paraplegias

Hereditary Spastic Paraplegias (HSP) are clinically and genetically highly heterogeneous neurodegenerative disorders primarily affecting the long axons of the corticospinal tract, leading to progressive lower limb spasticity and weakness.

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mitoNET

German Network for Mitochondrial Diseases

Mitochondrial diseases are a heterogeneous group of diseases characterized by mitochondrial dysfunction. The main function of mitochondria is the energy supply to the cell.

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Deutschlandkarte-Projektstandorte-treat-ionCopyright: LMU Klinikum

Treat-ION

New Therapies for Neurological Ion Channel and Transporter Disorders

Treat-ION represents a network of clinicians and scientists across Germany to advance the knowledge about recognizing and treating rare neurological ion channel and transporter disorders. Those comprise a variety of neuropsychiatric diseases and symptoms including developmental delay, epilepsy, episodic and chronic ataxia, migraine and others.

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GeNeRARe

German Research Network for RASopathies

RASopathies constitute a heterogeneous group of disorders with a common molecular pathogenesis and overlapping phenotypic patterns. Noonan, cardiofaciocutaneous, Costello, and LEOPARD syndromes belong to this group, as well as neurofibromatosis type 1 and Legius syndrome.

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GAIN

German network for multi-organ autoimmune diseases

Multi-organ autoimmune diseases belong to the “ultra-rare” disorders and have only recently been recognized being caused by monogenetic mutations in immune-regulatory genes. Patients are typically characterized by multi-organ inflammation

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ADDRess

Translational Research for Persons with Abnormal DNA Damage Response

Disorders with Abnormal DNA Damage Response (DADDR) are rare genetic conditions with impaired DNA repair or maintenance. A shared feature among affected individuals is a strongly increased cancer risk. Treatment is commonly complicated due to the underlying genetic defect.

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Translational research on rare diseases

Since 2003, the German Federal Ministry of Education and Research has been funding research networks in their endeavours to try to understand the causes of rare diseases and to develop urgently needed new therapeutic approaches. The confederation of specialists on specific disease groups can counteract the problem of small patient numbers and enables the concentrated collection and evaluation of information. Advances in basic research should speed up the diagnosis and thus rapidly supply the affected people with adequate medical treatment.

SAVE THE DATE: Research 4 Rare Symposium “The Translational Science of Rare Diseases – From Rare to Care IV”, Tutzing, 29.9.-1.10.2021

Current information and calls: