Rachel Lampert

Looking for participants: HCM and LQTS studies on exercise and lifestyle choices

Rachel Lampert, MD, Yale University

How do exercise and other lifestyle choices impact the well-being of patients with hypertrophic cardiomyopathy (HCM) or long QT syndrome (LQTS)? Although it is recommended that all patients with HCM and most patients with LQTS avoid most vigorous sports, the overall risks and benefits of exercise remain unknown. To better understand how exercise and other…

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Lisa Yue

Join us for Children’s Cardiomyopathy Awareness Month

Lisa Yue, President and Founder, Children’s Cardiomyopathy Foundation

When one thinks of heart disease, adults usually come to mind. The reality, though, is children can have heart disease too, often with more serious outcomes. I know because I lost my two sons to cardiomyopathy—a chronic and potentially life-threatening heart disease that affects the heart’s ability to pump and can lead, in severe cases,…

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Dan Kvitek

­Full PMS2 testing at Invitae: We’ve got you covered

Dan Kvitek, R&D scientist, Invitae

Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer, is an inherited predisposition to many types of cancer, including colon, endometrium, ovary, stomach, and urinary tract.1 Most cases of this important cancer syndrome are caused by genetic variants in the genes MLH1, MSH2, and MSH6, but 4 to 11 percent of cases are caused by…

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Elizabeth Ouellette

CMTA patient and family conferences: emerging partnerships

Elizabeth Ouellette, Vice Chair, Charcot-Marie-Tooth Association Board of Directors

At 8 am on August 29, 2015, the Seaport Hotel in downtown Boston will open its doors to the Charcot-Marie-Tooth (CMT) community—patients, families, caregivers, clinicians, researchers, and sponsors, all coming together to network, collaborate, and partner in the fight against CMT. Affecting more than 150,000 Americans and 2.8 million people worldwide, CMT is a group…

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Katie Mastro

How to discuss genetic disease with your loved ones and other toolkits from Global Genes

Katie Mastro, Global Genes

There are currently more than 7,000 rare diseases identified worldwide, affecting about 350 million people globally. Approximately 80 percent of these are caused by genetic changes. Although many people value their privacy, there are a number of reasons why patients or parents of children with a rare disease might choose to share their diagnosis with others,…

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Dana Knutzen

The ‘possabilities’ are endless for Joubert syndrome

Dana Knutzen, board member, Joubert Syndrome and Related Disorder Foundation

This week, the Joubert Syndrome and Related Disorder Foundation (JSRDF) hosts their biannual conference in Chicago, Illinois. The conference brings together the world’s experts on Joubert syndrome as well as families touched by this disorder. This year’s theme, the Possabilities Project, focuses on the skills that children and adults with the syndrome can develop and…

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Amy Sturm Watch This Video

Identifying red flags for inherited cardiac disorders

Amy Sturm, MS, LGC, Ohio State University associate professor and genetic counselor

Everyone has heart disease in their family history; in the United States, it’s the number-one cause of death in both men and women. Yet there are certain red flags in family histories that can indicate an increased risk for inherited cardiac disorders. In this video, Ohio State University professor and genetic counselor Amy Sturm describes…

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Colleen Caleshu

Racing Hearts 5K/10K race to support heart-disease care and research

Colleen Caleshu, lead genetic counselor and clinical assistant professor at the Stanford Center for Inherited Cardiovascular Disease

Heart disease is the number-one killer of both men and women, causing one in three deaths each year. On March 22, in honor of Heart Month, the Stanford Center for Inherited Cardiovascular Disease will host the Racing Hearts 5K/10K walk/run on the beautiful Stanford campus. Funds raised during the event will benefit care and research…

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Benjamin Helm

Advances in genomic technology: not forgetting empathy and advocacy

Benjamin Helm, genetic counselor at Children’s Hospital of The King’s Daughters

Ongoing advancements in genetic technology and bioinformatics are increasing our knowledge of genomic variation and human health. Next-generation sequencing technologies can help identify the causes of numerous genetic disorders. Genetic testing provides information about a diagnosis, its prognosis and medical management, and information about the risks to future offspring or other family members. Genetic counselors…

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Laurence Baret Watch This Video

Working with patients in inherited cancer genetics

Laurence Baret, genetic counselor

An increasing number of people are now familiar with genetic testing, and many people now view it as a routine part of the diagnostic process. Genetic counselors work with patients to evaluate family history and other risk factors to determine if genetic testing is needed, and if it is, counselors help them prepare for and…

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Brian Vikstrom Watch This Video

Finding the answers we want

Oncologist Dr. Brian Vikstrom on genetic testing for cancer

Dr. Brian Vikstrom is a practicing community oncologist who mostly sees patients that have already been diagnosed with cancer, or people who have a strong family history of cancer and are interested in genetic testing. Dr. Vikstrom explains how Invitae is helping his efforts to find answers for his patients.

Steven Tucker Watch This Video

Removing the hurdles

Dr. Steven Tucker on hereditary cancer testing in international markets

Outside the US, patients may have more difficulty obtaining genetic testing, cost barriers may be greater, and health literacy can be lacking. Dr. Steven Tucker, medical oncologist and general medical internist, talks about hereditary cancer testing internationally and how Invitae is helping to remove these hurdles.