Pediatric Genomics Discovery Program at YaleMedicine

02/28/2023

Today is Rare Disease Day! Today we recognize and honor those who have rare conditions, defined as occurring in fewer than 1 in 2,000 people. While individually these disorders are rare, collectively they are common, with over 5% of the world population being affected by a rare disease. The majority of rare diseases affect children and have a genetic explanation. Please SHOW YOUR COLORS today and help us honor Rare Disease Day! If you are able to attend out live event online today from 1-4 pm, please check it out below. We'd love to hear from you!

09/15/2021

A $3 million grant from the Chan Zuckerberg Initiative, awarded to a team of researchers led by Monkol Lek, PhD, assistant professor of genetics at Yale, will

05/13/2021

Another new gene discovery at Yale!

Novel Gene Identified as Genetic Cause of Portal Hypertension

02/05/2021

Congenital heart disease, the most common birth defect, refers to structural problems with a baby’s heart or major blood vessels.

01/08/2021

Some researchers have sought to treat genetic diseases by correcting the mutation. But it may be possible to use another approach. | Genetics And Genomics

12/14/2020

Some patients with genetically inherited diseases may benefit from advances in the field of gene therapy, a treatment that aims to correct a person's genetic mutation. A Yale geneticist created a gene therapy intended to benefit a single patient and is now testing it in his lab.

11/02/2020

Research by Yale and partner institutions sheds new light on the genetics behind cells’ susceptibility to infection by SARS-Cov-2 and MERS viruses.

10/07/2020

CRISPR is truly a game changer in our field! We in the PGDP use this technology everyday to help make new disease-gene discoveries. Congratulations to Emmanuelle Charpentier and Jennifer A. Doudna!

The 2020 Nobel Prize in chemistry was awarded for research into "rewriting the code of life." Emmanuelle Charpentier of France and Jennifer Doudna of the U.S. are the laureates.

10/06/2020

A simple modification of a DNA base in small areas of the genome may explain why glioblastoma tumors — particularly virulent brain tumors — are so deadly.

10/05/2020

Since the start of the pandemic, scientists have been trying to find out why some people get such severe illness from SARS-CoV-2 and others do not. | Genetics And Genomics

09/14/2020

Another important genetic disease discovery at Yale! Fragile X is one of the most common genetic causes of intellectual disability and autism spectrum disorders. Congratulations to Dr. Jonas and her team!

Fragile X syndrome — a disorder of the X chromosome — is the leading cause of autism and the primary genetic driver of intellectual disability.

09/09/2020

Researchers want answers for the one in every hundred mothers that lose a child to stillbirth. | Genetics And Genomics