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undiagnosed diseases

Microscopic image of a fruit fly.
From The Labs 

Comprehensive clinical study confirms the molecular link between microcephaly caused by Zika and ANKLE2 variants

September 15, 2022September 15, 2022ANKLE2, fruit fly, microcephaly, Research, undiagnosed diseases, zika

This study shows that ANKLE2 mutations can cause a wide range of severity in microcephaly among patients.

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Brain-with-DNA-featured
From The Labs 

The discovery of genes like PAX5 improves diagnostic testing for neurodevelopmental disorders, and more

April 14, 2022April 14, 2022genetic diagnosis, neurodevelopmental disorders, PAX5, Research, undiagnosed diseases

Discovering new genes that are linked to undiagnosed diseases has relevant scientific and clinical consequences as well as important personal implications for patients.

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From The Labs 

New approach to diagnosing genetic diseases using RNA sequencing increases yield

October 27, 2020October 27, 2020exome 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, 2019fruit 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, 2019Baylor 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, 2018fruit 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, 2017data 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: Adult-born neurons made the cover

Healthy Habits: A DOC-umentary Series

https://www.youtube.com/watch?v=SlNiMWHUhbc

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