An illustration of a chromosome with a yellow-colored mutation.
eBook

Unraveling Rare and Inherited Diseases with Genetic Technologies

Rare genetic diseases are difficult to diagnose and characterize in the laboratory because of their heterogeneity and global scarcity.

Share

Afflicting only a small fraction of the world’s population, rare genetic diseases stem from mutations within the genome. Because these chronic and heterogeneous conditions decrease quality of life and can result in premature death, rapid and accurate diagnosis is crucial. To analyze rare and inherited diseases, scientists employ several genetic methods. 

Download this ebook from Thermo Fisher Scientific to learn about 

  • The prevalence of rare diseases worldwide
  • Techniques for studying and diagnosing rare genetic diseases
  • Factors affecting the onset of Huntington’s disease
  • The role of Smad8 in the pathology of Duchenne muscular dystrophy

Sponsored by

  • Thermo Fisher Logo

Top Image Credit:

3D illustration of a gold lipid nanoparticle with pink nucleic acid inside of it. Purple and teal spikes stick out from the lipid bilayer representing polyethylene glycol.
February 2025, Issue 1

A Nanoparticle Delivery System for Gene Therapy

A reimagined lipid vehicle for nucleic acids could overcome the limitations of current vectors.

View this Issue
Considerations for Cell-Based Assays in Immuno-Oncology Research

Considerations for Cell-Based Assays in Immuno-Oncology Research

Lonza
An illustration of animal and tree silhouettes.

From Water Bears to Grizzly Bears: Unusual Animal Models

Taconic Biosciences
Sex Differences in Neurological Research

Sex Differences in Neurological Research

bit.bio logo
New Frontiers in Vaccine Development

New Frontiers in Vaccine Development

Sino

Products

Tecan Logo

Tecan introduces Veya: bringing digital, scalable automation to labs worldwide

Explore a Concise Guide to Optimizing Viral Transduction

A Visual Guide to Lentiviral Gene Delivery

Takara Bio
Inventia Life Science

Inventia Life Science Launches RASTRUM™ Allegro to Revolutionize High-Throughput 3D Cell Culture for Drug Discovery and Disease Research

An illustration of differently shaped viruses.

Detecting Novel Viruses Using a Comprehensive Enrichment Panel

Twist Bio