Rare (orphan) diseases

The program of lectures and seminars on the topic of "rare (orphan) diseases”

Lecture 1 - introductory topic: "Legal aspects of rare (orphan) diseases in Russia and in the world."

Summary: The presented current data on rare orphan hereditary and congenital diseases, definitions are given, the approaches to assessing the frequency and prevalence of diseases, the existing problems of diagnosis and treatment of rare diseases in the world and our country. We give lists of hereditary diseases and syndromes, classified as rare. We consider the most urgent problems of rare diseases, requiring first step solutions.

2 Lecture / seminar - topic: "Rare diseases in endocrinology"

Summary: The epidemiological data presented and the register of rare endocrine diseases and their clinical diagnosis. It is the correct identification of rare clinical manifestations and diagnosis of other species due to the specific treatment of synthetic hormones on the background of hormonal imbalance or deficiency. We give some kinds of therapy with the help of modern orphan drugs.

A nosologic or classification example is:

Addison's disease

Detailed analysis and study of the causes of the orphan diseases, especially childhood cerebral forms of Addison's disease, diagnosis, prognosis and treatment prospects. Separate issues of new pharmacological possibilities of genetic and other new techniques and methods of diagnosis.

3 lecture / seminar - from the cycle "Rare diseases in endocrinology"

A nosologic or classification example is:

Cushing's Disease and Cushing's Syndrome

The problems of diagnosis and differential diagnosis of these conditions. As examples of the questions hormonal imbalance associated with dysfunction of Compliance glands, as well as examples of such associations: acromegaly, gigantism, Prader-Willi syndrome. In addition, analysis of the issues of growth regulation, autoimmune conditions - Graves disease, blood disorders - beta-thalassemia, etc. Issues of treatment including first developed products, as well as the use of radiation therapy, surgery, medicines that suppress the abnormal hormonal activity and receptor antagonists.

4 lecture / seminar - topic: "Rare diseases in pulmonology"

Summary: Epidemiology and presented a rare case of lung diseases, clinical diagnosis, radiological diagnosis, pathological diagnosis, the basics of drug therapy, the foundations of non-drug therapy, lung transplantation with rare diseases. Provides an overview of the following pathologies: lung disease, caused by the intake of medicines, idiopathic pulmonary fibrosis, interstitial pneumonia idiopathic, granulomatous diseases, exogenous allergic alveolitis, pulmonary Langerhans cells histiositos, lymphangioleiomyomatosis (LAM), cystic fibrosis, pulmonary hypertension, a rare disease of the trachea.

As an example nosological highlights:

Lymphangioleiomyomatosis (LAM)

Detailed analysis and study of the causes of this orphan disease, especially diagnostic approaches, the search for genetic markers in lymphangioleiomyomatosis, prognosis and diagnose a genetic prospects.

This lecture is held on the basis of the Research Institute of Pulmonology with the participation of leading specialists and pulmonologists demonstration of patients.

5 lecture / seminar - from the cycle "Rare diseases in pulmonology"

A nosologic or classification example is:

Cystic fibrosis or cystic fibrosis (CF)

Analysis of the situation in the world and in Russia. Detailed analysis and study of the causes of this orphan disease, especially diagnostic approaches, the search for genetic markers of complications arising during the life of these patients - diabetes and its features, cirrhosis and other complications associated with tissue fibrosis. In addition, questions covered therapy, including examples and new drugs and their mechanisms of action. Questions of dietary habits of these patients, the specific preparation for surgical treatment.

This lecture is held on the basis of the Research Institute of Pulmonology with the participation of leading specialists and pulmonologists demonstration of patients.

6 lecture / seminar - topic: "Rare diseases in neurology"

We give an overview of rare neurological diseases in children of adults with highlight epidemiological issues and situations in the world and in Russia, as well as specific peculiar properties and diagnostic criteria. Rare diseases are not so rare in neurology, is believed to be especially true for children. About 80% of rare diseases are caused by genetic mutations, so special attention is paid to the genetic diagnosis. The problems of life-long treatment and management of patients of these standards. A review of rare neurological diseases and their division into the disease with lesions of the neuromuscular synapses, the pyramidal system, extrapyramidal system, cerebellar system (hereditary ataxia), the neuromuscular system, and others. The role of technical methods of diagnosis, a biopsy of muscle, electromyographic, medication samples.

As nosological example is:

Amyotrophic lateral sclerosis - ALS

We consider the general issues of the prevalence of rare diseases with the analysis of the situation in the world and in Russia. Analyzed the diagnostic criteria and diagnostic difficulties in mixed forms with the defeat of both the peripheral and central motor neurons. We give specific clinical examples of such combinations. The virtual absence of treatment of this disease - as a result of the defeat of the peripheral motor neuron - leaves patients hope of recovery. Analyzed medications available to the (group Relutek), which are highly toxic and are not tolerated in many patients, and they do not slow progression of the disease. We discuss the various manifestations and forms of the disease and the characteristics of their diagnosis. Data on additional funds for these life patients.

7 lecture / seminar - from the cycle "Rare diseases in neurology"

As nosological examples are:

The progressive neuro-degenerative and neuro-muscular diseases.

We give rare syndromes, methods of diagnosis, treatment options, with an emphasis of their prevalence in the Russian population.

8 lecture / seminar -Theme: "New orphan drug"

The problems of determining the status of a rare drug, provides data leading pharmaceutical companies in the world that manufacture orphan drugs. Examples of orphan drugs available today, designed not only for treatment but also for the diagnosis and prevention of rare diseases. The issues of financing and production and special programs for the production of medication data. We present the situation in Russia, where the problem of orphan diseases there is little discussion in the scientific and medical press.

Showed the analysis of mass screening of newborns in Russia and possible diagnosis of rare genetic diseases.

The data on the determination of legal status of orphan drugs in Russia, their cost and availability, as well as the government acts to provide free medical care for these patients.

The prospects for a solution to the problem of rare diseases - the creation of national programs for the public, federal regulation, policy creation of orphan drugs in our country, scientific research, etc.