Developmental Disabilities

I just learned that today is Developmental Disability Professionals Day. That gives me an excuse to express gratitude to those who recognize that all people bring value and diversity to the fabric of our world, and mention that these professionals provide services to some of the most vulnerable. Developmental disability is a catchall term for many ...

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The Genetics of Race and the Problem with Race-based Medicine

For as long as there have been human beings on Earth, there have been conflicts over territory, religion, property, natural resources, who one should love or marry, how to raise children, and innumerable other topics. But perhaps no issue has been as divisive as race. Mounting scientific evidence has shown that humans are fundamentally more similar...

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Usher syndrome - the most common cause of hereditary deafblindness

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 ...

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What if gene editing veers from being therapeutic to an enhancement tool for human traits?

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...

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October is More than Just Breast Cancer Awareness Month

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...

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September is Newborn Screening Awareness Month

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...

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The Genetics of Some Common Conditions

 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 BlindnessRed/green color blindness is by far the most common type, with an incidence of 1 in 12 ma...

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Branching Off The Tree

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,...

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The Importance Of Knowing Your Family History

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...

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The Genetics Of Mental Illness

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...

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Cancer Genetics and Genetic Counseling Made Simple (Cancer Genetics Part I)

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...

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The Why, Not The How, Of Prenatal Testing

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...

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Ask Me Why Being a Twin is Not Cute!

That's me on the right. On the left, is my sister Donna. And incidentally, we never dress alike, but when in Ann Arbor … Go Blue! "Oh my God - you guys are identical!"But really, the fact that we look alike doesn't mean we are identical. Everyone's first question upon finding out my sister and I are twins is, "Are you identical or fraternal?" For m...

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Direct-to-Consumer Genetic Testing

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 ...

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Genetic Mythbusters - Part II

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...

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Genetic Mythbusters - Part I

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...

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Work-Life Balance

Finding your work-life balance If you're anything like me, you're having trouble with work-life balance. Technology makes us accessible around the clock, and a pandemic leading to many of us working from home means we never go home from work. The desk, the phone, the email, are always there - watching us, beckoning us. If I do it now, I won't have ...

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Coming soon! my second novel, In Good Conscience

In Good Conscience is the story of a talented and famous actor who develops a serious illness, and in the course of his treatment is betrayed by the people he trusted. He loses the love of his life, his private information is leaked for the world to see, and he must face his mortality much sooner than he ever would have thought. Meanwhile, one of t...

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