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tag rare diseases genetics genomics ecology disease medicine culture

DNA molecule.
Finding DNA Tags in AAV Stacks
Mariella Bodemeier Loayza Careaga, PhD | Mar 7, 2024 | 8 min read
Ten years ago, scientists put DNA barcodes in AAV vectors, creating an approach that simplified, expedited, and streamlined AAV screening. 
bacteria and DNA molecules on a purple background.
Engineering the Microbiome: CRISPR Leads the Way
Mariella Bodemeier Loayza Careaga, PhD | Mar 15, 2024 | 10+ min read
Scientists have genetically modified isolated microbes for decades. Now, using CRISPR, they intend to target entire microbiomes.
Defining Rare Disorders: A Profile of Judith Hall
Anna Azvolinsky | Sep 1, 2019 | 8 min read
By bringing genetics into clinical medicine, the University of British Columbia medical geneticist helped to identify the gene mutations responsible for many rare diseases.
Valerie Arboleda Uses Big Data to Unravel the Biology of a Rare Disease
Shawna Williams | May 1, 2018 | 3 min read
The UCLA geneticist examines how defects in a histone protein lead to symptoms throughout the body.
Lack of Diversity in Genetic Datasets is Risky for Treating Disease
Ashley Yeager | Mar 21, 2019 | 6 min read
Certain populations have been historically underrepresented in genome sequencing studies, but the NIH, private clinics, and 23andMe and other companies are trying to fix that.
Can Viruses in the Genome Cause Disease?
Katarina Zimmer | Jan 1, 2019 | 10+ min read
Clinical trials that target human endogenous retroviruses to treat multiple sclerosis, ALS, and other ailments are underway, but many questions remain about how these sequences may disrupt our biology.
PATH TO TREATMENT: Marley, pictured here with her father, was diagnosed with the rare genetic condition Bachmann-Bupp syndrome a few years ago.
Doctors Treat Girl’s Genetic Disorder with Repurposed Drug
Amanda Heidt | Dec 1, 2021 | 6 min read
In just 16 months, physicians went from identifying a novel rare disease in three-year-old Marley to successfully treating her with a drug previously used to treat African sleeping sickness and pediatric cancer.
2022 Top 10 Innovations 
2022 Top 10 Innovations
The Scientist | Dec 12, 2022 | 10+ min read
This year’s crop of winning products features many with a clinical focus and others that represent significant advances in sequencing, single-cell analysis, and more.
Telomeres in Disease
Rodrigo Calado and Neal Young | May 1, 2012 | 10+ min read
Telomeres have been linked to numerous diseases over the years, but how exactly short telomeres cause diseases and how medicine can prevent telomere erosion are still up for debate.
Exploring the Past, Present, and Future of Brain Organoids 
Niki Spahich, PhD | Feb 18, 2024 | 5 min read
Paola Arlotta seeks to understand the complex symphony of brain development in vitro by using organoid models.

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