Genetics · MU Sofia

60. Conventional therapy of genetic diseases. Orphan drugs.

Explains why conventional therapy of genetic diseases aims at correcting metabolic consequences rather than the underlying defect, then walks through the main strategies: dietary restriction and supplementation, enzyme and protein replacement, hormone and factor replacement, pharmacological modulation, symptomatic care and early screening. It closes with orphan drugs, covering why they are needed, regulatory incentives, the main drug types such as chaperones and substrate reduction, and the challenges of cost and access.

Inside: 13 sections · 7 labelled pictures · 14 flashcards · 4 min

Topic 60 of 65 in the MU Sofia syllabus for Genetics (Medicine, Year 3). The free AceMed note covers it in 13 sections, about 532 words (4 min of reading), with 14 flashcards.

In this note

  1. Conventional therapy of genetic diseases. Orphan drugs.
  2. I. GENERAL CONCEPT OF THERAPY IN GENETIC DISEASES
  3. II. PRINCIPLES OF CONVENTIONAL THERAPY OF GENETIC DISEASES
  4. III. DIETARY AND METABOLIC THERAPY
  5. IV. ENZYME AND PROTEIN REPLACEMENT THERAPY
  6. V. HORMONE AND FACTOR REPLACEMENT
  7. VI. PHARMACOLOGICAL MODULATION OF PATHWAYS
  8. VII. SYMPTOMATIC AND SUPPORTIVE THERAPY
  9. VIII. PREVENTIVE THERAPY AND EARLY INTERVENTION
  10. IX. ORPHAN DRUGS
  11. X. TYPES OF ORPHAN DRUGS USED IN GENETIC DISEASES
  12. XI. CHALLENGES OF ORPHAN DRUG THERAPY
  13. XII. ROLE OF GENETIC COUNSELING IN THERAPY

I. GENERAL CONCEPT OF THERAPY IN GENETIC DISEASES

Genetic diseases are caused by permanent alterations in the genome, therefore in most cases causal cure is not possible with conventional therapy. Treatment is mainly aimed at:

  • correcting metabolic consequences,
  • preventing complications,
  • improving quality of life,
  • prolonging survival.

Conventional therapy focuses on phenotypic correction, not on correcting the underlying genetic defect.

II. PRINCIPLES OF CONVENTIONAL THERAPY OF GENETIC DISEASES

Main Therapeutic Strategies

Conventional treatment strategies can be grouped into:

  1. 1. Elimination of toxic substrates
  2. 2. Replacement of missing products
  3. 3. Dietary modification
  4. 4. Symptomatic and supportive treatment
  5. 5. Prevention of disease complications

III. DIETARY AND METABOLIC THERAPY

A. Restriction of Toxic Substrates

This approach reduces accumulation of substances that cannot be metabolized due to enzyme deficiency.

Mechanism

  1. 1. Enzyme defect leads to substrate accumulation.
  2. 2. Accumulated metabolite causes toxicity.
  3. 3. Dietary restriction limits substrate availability.
  4. 4. Disease manifestations are reduced.

Examples

  • Phenylketonuria → low-phenylalanine diet
  • Galactosemia → lactose/galactose-free diet
  • Fructose intolerance → fructose avoidance

B. Supplementation of Essential Products

Some genetic disorders cause deficiency of important metabolites.

Examples

  • Urea cycle defects → essential amino acid supplementation
  • Homocystinuria → vitamin B₆, B₁₂, folate
  • Biotinidase deficiency → biotin supplementation

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