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undiagnosed diseases

From The Labs 

New approach to diagnosing genetic diseases using RNA sequencing increases yield

October 27, 2020October 27, 2020 Ana Rodríguez 0 Comments exome and genome sequencing, Research, RNA sequencing, undiagnosed diseases

Researchers find that starting genetic analysis with RNA sequencing can increase diagnostic yield and confidence in diagnosis.

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From The Labs 

New undiagnosed disease linked to variants of WDR37 gene

August 13, 2019August 13, 2019 Ana Rodríguez 0 Comments fruit fly, neurological disease, Research, undiagnosed diseases, WDR37

A new undiagnosed neurological syndrome that is characterized by brain malformations and a range of symptoms including visual impairment, epilepsy, developmental delays and intellectual disability

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From The Labs 

To better serve patients, Baylor researchers pioneer and improve reanalysis of clinical molecular data

June 20, 2019July 17, 2019 Ana Rodríguez 0 Comments Baylor Genetics, molecular diagnosis, rare disease, Research, undiagnosed diseases

Many physicians and scientists think that the molecular diagnostic rate of undiagnosed diseases has room for improvement. Inspired by this need, a team at Baylor

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From The Labs 

Fruit flies: ‘living test tubes’ to rapidly screen potential disease-causing human genes

May 22, 2018May 22, 2018 Ana Rodríguez 0 Comments fruit fly, Model organisms, Research, TBX2, undiagnosed diseases

It all began with one young patient; a 7-year old boy who was born without a thymus, an important organ of the immune system, and

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From The Labs 

Collaboration matters when looking for answers to undiagnosed diseases

February 10, 2017 Ana Rodríguez 0 Comments data sharing, de novo mutation, developmental delay, Human genetics, NACC1, Rare Diseases, undiagnosed diseases, whole exome sequencing

It used to be that identifying genes involved in a particular disease was like finding a needle in a haystack. Nowadays, scientists still have to

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From the Labs Image of the Month

From The Labs Image of the Month From the Labs features an image of the laboratory worm, Caenorhabditis elegans. Image credit: Dr. Tao Chen/Wang lab.

Healthy Habits: A DOC-umentary Series

https://youtu.be/MAXO08xs9fc

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