Rare Diseases Archives - Baylor College of Medicine Blog Network

The journey of the texome project: Bridging the gap in genomic medicine

February 28, 2025 genetic testing, Genetics, genomic medicine, genomic technology, Rare Diseases, Texas Children's Hospital, the Texome Project

How Texas Children’s Hospital and Baylor are using exome sequencing to level the playing field for patients with undiagnosed rare diseases.

From The Labs

Congratulations, Dr. James R. Lupski, 2024 Mendel Lecturer and recipient of the Gilded Pea Award!

July 25, 2024 Gilded Pea award, Human genetics, human genomics, Mendel lecture, Rare Diseases, Research

Dr. James R. Lupski has delivered more than 620 lectures in 37 countries, but none was received with nearly the same enthusiasm as his Mendel lecture this past June in Berlin.

From The Labs

Using AI to improve diagnosis of rare genetic disorders

May 9, 2024 AI, artificial intelligence, exome reanalysis, genetic diagnosis, MARRVEL, Mendelian disorders, Rare Diseases, Research

AIM narrows the differential genetic diagnoses down to a few genes and can potentially guide the discovery of previously unknown disorders.

A pair of hands working with research samples.

From The Labs

Research method finds new use in diagnosis of genetic disorders

April 25, 2024 genetic diagnosis, Rare Diseases, Research, RNA sequencing, transdifferentiation

This new testing method represents a paradigm shift in laboratory genetics, moving from the traditional DNA-centric approach to one focusing on the patient’s cells.

A researcher placing specimens into a machine.

Policywise

Searching for equity in payer coverage of genetic tests

January 26, 2024 children, genetic test, Medicaid, pediatric patients, private insurance, Rare Diseases

Despite the advancement of clinical genetic tests to diagnose rare diseases and the benefits of identifying a genetic diagnosis for pediatric patients and their families,

From The Labs

Human mini guts reveal new insights into Cronkhite-Canada syndrome and potential new therapies

November 16, 2023 Cronkhite-Canada syndrome, human intestinal organoids, polyps, Rare Diseases, Research, serotonin

The work also highlights the value of human organoid technology to improve the understanding of any disease and identify potential clinical applications.

From The Labs

Undiagnosed Diseases Center to address rare genetic cases

September 13, 2022 genetic diseases, Rare Diseases, Research, UDN, Undiagnosed disease center

Baylor College of Medicine has formed a new center to evaluate patients with rare genetic conditions.

From The Labs

Book release: “Genomics of Rare Diseases. Understanding Disease Genetics Using Genomic Approaches”

June 25, 2021 book release, Genetics, Genomics, Rare Diseases, Research

“Genomics of Rare Diseases” offers readers a broad understanding of current knowledge on rare diseases from a genomics perspective.

From The Labs

Hispanic Heritage Spotlight: Interview with Dr. Juan Botas

October 29, 2020 Alzheimer's, Espana, Hispanic Heritage, Huntington’s, neurodegenerative diseases, Parkinson's, Rare Diseases, Research

Dr. Juan Botas shared his challenging beginnings, his passion for neuroscience and how he is bringing science to a general audience.

From The Labs

Patient-inspired research connects sugar metabolism and peroxisomes

September 28, 2017 lipid metabolism, peroxisomal biogenesis, Peroxisomal disease, peroxisomes, PEX genes, Rare Diseases, sugar metabolism, Zellweger disease

Peroxisomal biogenesis disorder is a condition that has been linked only to lipid metabolism. This line of thought has now changed as new research has

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