Gene sequencing at Yale finding personalized root of disease; new center opens in West Haven – Litchfield County Times

WEST HAVEN >> Our genes define our individuality, including what diseases to which we may be susceptible.

In just a few days, gene-sequencing machines can map all of a persons genes, revealing the cause of a genetic illness and even suggesting the best possible treatment.

On Monday, the Yale School of Medicine, partnering with Yale New Haven Hospital, took the next step toward personalized medicine, cutting the ribbon on its Center for Genome Analysis on Yales West Campus.

Dr. Murat Gunel, professor of genetics and neuroscience in the medical school, gave a vivid example of how gene sequencing can save lives:

About three months ago a baby was born in New Haven with a really, really significant skin disease that we had to transfer him to the intensive care unit. And he was dying, and we didnt know what was wrong with him, Gunel said. In six days we were able to sequence his genome, understand his disease and he is at home playing with his mother now.

The baby suffered from dystrophic epidermolysis bullosa, which makes the skin extremely fragile, and its caused by a mutation in just one gene: COL7A1. Gunel said Dr. Keith Choate first saw the baby on a Saturday and by Friday had the diagnosis. This is a daily occurrence, Gunel said.

Choate said the genetic analysis showed the infant had a mild case of the disease, which was limited to the hands and feet. He is receiving advanced wound care, Choate said.

The pair of NovaSeq 6000 gene-sequencing machines that are churning out this information with three more on the way will help researchers find treatments and cures for cancers, prenatal diseases and others at a faster and faster pace.

Of 20,000 genes in the human genome, 57 have been identified for which preventive measures can be taken or treatment can be prescribed if an abnormality or mutation is found. For example, mutations in the BRCA1 or BRCA2 genes increase a womans risk of developing breast or uterine cancer.

We are sequencing every cancer at Smilow now, understanding what is specific for that cancer and giving treatment specific to that individual, Gunel said. We want to take from these specific diseases not only for prenatal, not only for newborn, not only for cancer, but [to] understand the health of an individual. We want to make Connecticut the healthiest state in the nation by sequencing and understanding the differences between all of us.

Dr. Robert Alpern, dean of the Yale School of Medicine, said, The idea is that you can know the total sequence of a patient and then follow their history, their health, what happens to them and then correlate them together so that someday we will be able to predict everything about ones health just from their DNA sequence.

Yale has done so much for New Haven, so much for New Haven County and now so much for this country, said Senate Republican President Pro Tem Len Fasano of North Haven.

Referring to the ability to map a persons genome within days, Fasano said, You can take that and figure out how the environment affects different lives by looking at different gene structure, comparing to different parts of the country or whether its an urban area versus a suburban area. The research that can stem from this is pretty amazing when you think of it.

The growing field also is a boon to the states economy. Senate Democratic President Pro Tem Martin Looney of New Haven said, This commitment to the advancement of health and medicine will have far-reaching and positive impacts on our economy and overall well-being for years to come. We know were going to need data scientists, health information specialists, clinical analysts, genomic counselors, to name just a few of the specialties that are going to create huge opportunities for new employment in our state.

Marna Borgstrom, CEO of Yale New Haven Health, which includes the hospital, said, Theres great work being done here and our interest has been, who does this apply to and how can we make this available to patients? And with our partners at the medical school were committed to providing unparalleled value to people we serve, and part of value is giving people outcomes that are meaningful to them.

And so you start to think about areas like prenatal diagnoses, like certain newborn diseases, difficult cancers and the ability to take all of the drugs and the treatments and the information thats out there but actually create a specialized plan for each patient as each patients going to respond differently, she said.

Call Ed Stannard at 203-680-9382.

Read more:
Gene sequencing at Yale finding personalized root of disease; new center opens in West Haven - Litchfield County Times