Rare Diseases Archives - Baylor College of Medicine Blog Network

The funding is to renew the Brittle Bone Disorders Consortium for five years and to launch the Rare Organic Acidemias Research Consortium.

Policywise

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.