Dr. George Diaz, Medical Genetics and Genomics

29/02/2020

It's Rare Disease Day 2020! Despite the relative rarity, up to 300 million people worldwide are affected with rare disorders. Our specialists in the Division of Medical Genetics and Genomic Sciences work every day to address the needs of our patients with .

25/02/2020

The ethics of gene editing merit serious discussion. This is a wonderful conversation starter...

Our second daughter arrived in this world with a shock of white hair. Her albinism took her family on a journey of discovery.

14/02/2020

Had the privilege of presenting the results of enzyme replacement therapy in children with Niemann-Pick disease at . I’m lucky to be able to play a part in bringing forward treatments based on groundbreaking work started at Mount Sinai

12/02/2020

Part of the fabulous Lysosomal Storage Disease team at . Way to go Luca Fierro and Dr. Jaya Ganesh!

12/02/2020

Deep into the agenda, exciting to see the developments in lysosomal storage disease treatments

11/02/2020

The ethics of medical genetics are as challenging as the management considerations...

The magazine’s Ethicist columnist on overruling your sibling to tell her children about their genetic predisposition to a terminal illness and more.

06/02/2020

Harping on a theme here. The responsible application of genetics is to improve health outcomes for all.

Scientists wanted to explain health disparities and ended up with a right-wing talking point.

05/02/2020

Rebuttal to the use of Polygenic Scores to advance eugenics-tinged “thinking”. Misapplication of genetics is an ever-present danger.

A place where words matter

04/02/2020

Genomic medicine opens the door to rare disease diagnosis and therapeutics. Wishing these organizations success in their mission to enlighten.

The organization announced a set of grants for 30 groups, each of which will receive $450,000, along with additional resources, over two years.

01/02/2020

A colleague and a friend advocating for screening. Sinai will be a site in this important project.

Melissa Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children's Hospital at Montefiore talks about the need for newborn screening to help eliminate the long and often frustrating delays in a getting a proper diagnosis for rare conditions.

30/01/2020

Highlighting our shared common ancestry, it runs deep.

Detecting archaic introgression in modern humans without using an unadmixed reference panel reveals higher Neanderthal ancestry in African individuals than previously seen and suggests that back-to-Africa migrations contributed to this signal.