Raise your hand if you know what Usher syndrome is. No? Probably not too many people do, but it happens to be the most common cause of hereditary deafblindness. A couple of weeks ago, I had the incredible pleasure and honor of meeting Nancy O'Donnell, the Director of Outreach for the Usher Syndrome Coalition, who has been working with the deaf and ...

In October of this year, University of California at Berkeley biochemist Dr. Jennifer Doudna and Dr. Emmanuelle Charpentier, Director of the Max Planck Institute for Infection Biology in Berlin, won the 2020 Nobel Prize in Chemistry. They were awarded the prize for their co-development of CRISPR-Cas9, a genome editing breakthrough that has revoluti...

Everyone knows that October is breast cancer awareness month, and that's great. With the frequency of breast cancer diagnoses every year (about one in eight women will develop it throughout her lifetime), it is most certainly vital that we be aware and help to fund research, treatment, support groups, etc. Yes we need all these things, and breast c...

What it is Newborn screening is the practice of testing all babies in their first days of life for certain disorders and conditions, mostly genetic, that without intervention may permanently impact them and their families. This testing is required in every state, because the earlier these disorders are recognized and treated, the better the outcome...

 I asked some friends recently what they'd like to read about in this blog. One of them answered that she'd like to learn about common genetic conditions like color blindness and heterochromia. Perhaps you've been wondering about these too. Color Blindness Red/green color blindness is by far the most common type, with an incidence of 1 in 12 m...

For anyone who has read Far from the Tree by Andrew Solomon, you know that his premise is that diversity is what unites us all. He explains that individuals from different families who have the same type of trait or condition are often more like each other than the families they come from, hence the title of the book. He writes, among other things,...

The Genetics of Psychiatric Disorders….Such as We Know Them Have you ever noticed that many things run in families? Whether it's heart disease, arthritis or red hair, it is often fairly simple to trace the lines of inheritance throughout the generations. But sometimes, clarity is hard to come by. In some families, several different hereditary disor...

Eating healthy, exercising, and not smoking is good for all of us. It's probably hard to find many people who don't know that. But what most people may not realize is that our family histories can be strong influences on disease risk. Common medical issues such as heart disease, arthritis, diabetes, and cancer can run in families. While we cannot c...

For the last 10 - 15 years, direct-to-consumer (DTC) genetic testing has become a very popular tool for ancestry testing as well as determining disease risk. There are a lot of misconceptions in the public about what these tests reveal, and how accurate they are. Several years ago I was chatting over Thanksgiving dinner with my cousins about doing ...

In this post I thought I would start talking about some general genetics myths that I find many people share. First, the idea of diseases or disorders skipping a generation. From a genetic standpoint, there really is no such thing as skipping a generation. This is because you cannot pass on what you don't have. So if your father has, for example, a...

In Genetic MythBusters Part 1, I discussed the idea of genetic conditions skipping a generation. If you read it, you know that nothing actually does skip a generation. Another common myth is that there is a really high risk for birth defects when people who are related to each other have children together. In actuality, the risk is increased, but n...

It can be confusing to say that cancer is genetic but also that most of the time it is not hereditary. It is genetic in the sense that it involves our genes, but most of the time there are gene changes that occur long after we are born, that were not passed down to us by our parents. This also means that we will generally not pass them on to our ch...

Throughout the last 50 years or so, many prenatal testing options have become available, the two most common being amniocentesis and chorionic villus sampling (CVS).These allow for a woman or a couple to determine certain health issues of an unborn baby. Prenatal testing will never guarantee a healthy child, as many genetic disorders and birth defe...