Archive for the ‘Rare Genetic Conditions’ Category
One Family’s Journey with Fanconi Anemia
In today’s Washington Post, Liza Mundy, writes about Laurie Strongin and her efforts to help other families by keeping the memory of her son alive. Laurie’s son, Henry, passed away in 2002 from fanconi anemia, a genetic disease characterized by physical abnormalities, bone marrow failure and an increased risk to develop cancer.
In October 1995, Laurie and her husband, Allen Goldberg, became parents to a son, Henry. In addition to being adorable, their firstborn was afflicted with a disease called Fanconi anemia. Sometime in early childhood, Laurie and Allen were told, Henry would suffer bone marrow failure and die. They were offered a shard of hope for his survival: a genetic test that might enable them to conceive another child who could provide a life-saving bone marrow transplant.
Severe Combined Immunodeficiency (SCID) should be added to universal newborn screening programs
Recently, the Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC) unanimously agreed to recommend the addition of Severe Combined Immunodeficiency (SCID) to the universal newborn screening panel. The American College of Medical Genetics (ACMG) and the Immune Deficiency Foundation both support this recommendation. SCID is the first condition to be added to the universal screening panel since the ACHDNC adoption of over 20 recommended conditions in 2005.
SCID refers to a group of genetic condtions that cause immune system dysfunction. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. The organisms that cause infection in people with SCID are described as “opportunistic” because they ordinarily do not cause illness in people with normal immune systems.
Media Returns Focus to Classic Genetic Diseases
Most genetic diseases can be broken down into three main categories:
- Mendelian Disorders (such as Huntington’s disease, cystic fibrosis, Fragile X syndrome and sickle cell anemia)
- Chromosomal Abnormalities (such as Down syndrome, Trisomy 13, Trisomy 18, and translocations)
- Multifactorial Diseases (such as diabetes, heart disease, non-familial Parkinson’s disease and late-onset Alzheimer’s disease)
Traditionally, the genetics community has focused their clinical and research efforts on the “classic” genetic diseases, mendelian disorders and chromosome abnormalities. Collectively, these conditions affect a large percentage of the population, but individually, some of these conditions are considered rare because they affect a small number of people. In contrast, many multifactorial conditions are common and related to much of the cost to our healthcare system. Recent advances in genetic technologies and the subsequent emergence of personal genomics companies, such as 23andMe, Navigenics, deCODEme and Pathway Genomics, have shifted media attention away from the rarer, “classic” genetic diseases and towards the promise of discovering the genetic components of multifactorial disease in order to create more effective treatment and prevention options.
It takes “Extraordinary Measures” to promote Pompe Disease awareness
Sometimes, it takes a blockbuster movie like Extraordinary Measures, in theaters now, to increase public awareness of a rare and neglected genetic disease. The movie, which stars Brendan Fraser, Keri Russell and Harrison Ford, is inspired by the story of John and Aileen Crowley, who have two children with Pompe disease. In the 1990’s, John Crowley collaborated with a scientist named William Canfield in an ongoing effort to develop treatment for Pompe disease.
Pompe disease (also known as Glycogen Storage Disease Type II) affects an estimated 1 in 40,000 people in the United States and is caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally. Pompe disease is caused by mutations in a gene called GAA and is inherited in an autosomal recessive manner, which means that two mutated gene copies, one from each parent, are necessary to cause the disease.
What is AccessDNA?
What is AccessDNA?
We are often asked why we founded AccessDNA and how we hope to help people. As a genetic counselor, I often get calls and emails from people located around the country looking for information about their genetic disease or that of a loved one. They may find my name in a directory at the National Society of Genetic Counselors website or they may find our website by doing a Google search and send me an email. But, either way, they usually reach out because they are having a hard time finding any relevant information about their genetic disease or finding a genetic counselor in their local area since there are so few of us practicing in the United States.
We believe access to credible information and genetic services is critical for individuals and their loved ones when faced with a genetic condition. Access to genetic counseling is especially important because genetic counselors have specialized training in assessing an individual’s risk to develop or pass on a disease or abnormality. We are also trained in the medical aspects of the disease, such as symptoms and characteristics, disease management and treatment, as well as the psychological implications of disease on an individual or family.
AccessDNA was founded to help people get guidance and support in this emerging and promising area of medicine. In an era where our knowledge of the genetics of both rare and common diseases, such as diabetes and heart disease, is rapidly advancing, and tests are being developed daily, everyone can use a little help understanding what this means for themselves and their family.
Charles Darwin Posthumously Diagnosed with Genetic Vomiting Disorder
Throughout Darwin’s adult life, the author of “The Origin of Species” was affected with a chronic illness characterized by episodes of nausea and vomiting, stomach and skin problems, and lethargy often associated with headache, visual disturbances, and heart palpitations.
Darwin’s medical symptoms have long been a mystery to historians. While some believed Darwin to be a hypochondriac, others have suggested toxic poisoning as the root of his ailments. Now an associate professor at Monash Univerity in Melbourne, John Hayman, suggests in the December issue of the British Medical Journal, that Darwin, the man made famous for “survival of the fittest,” was himself affected with a genetic disorder called cyclic vomiting syndrome.
Top Ten Conditions of 2009
It’s the end of the year, and it seems everyone is doing a top ten list. Time magazine even has a Top 10 Everything of 2009 – from animals to politics to business. At the end of AccessDNA’s first full year on the Internet, I thought it fitting to do our own Top Ten of 2009.
Top Ten Trafficked Conditions of 2009
- Chromosome Abnormalities
- Ashkenazi Jewish Diseases
- Celiac Disease
- Alzheimer’s Disease
- Autoimmune Thyroid Diseases (Hashimoto’s Thyroiditis; Graves’ Disease)
- Hematological Cancers (Leukemia; Lymphoma)
- Hemochromatosis
- Breast Cancer
- Amniotic Band Syndrome
- Amyotrophic Lateral Sclerosis (ALS)
The AccessDNA team wishes everyone a happy and healthy holiday season!
Happy 30th Birthday NSGC!
Last week,I blogged about the important role genetic counselors play within the healthcare system. Today, I am heading to the National Society of Genetic Counselors (NSGC) annual conference in Altanta, GA, where I will meet with other genetic health professionals, watch presentations on the latest applications of genetic technologies and discoveries, and participate in educational sessions.
As a “younger” genetic counselor, I have, at times, taken advantage of the NSGC and the educational opportunities it provides without really appreciating the value of the organization. I pay my yearly membership dues and am proud to be a member, but I have never truly advocated for the NSGC like they advocate for genetic counselor.
Therefore, here’s my petite homage to the NSGC…
The NSGC is “the leading voice, authority and advocate for the genetic counseling profession.” Incorporated in 1979, the NSGC’s mission is to advance “various roles of genetic counselors in health care by fostering education, research, and public policy to ensure the availability of quality genetic services.”
- For information about the history of the NSGC, read “An Oral History of the National Society of Genetic Counselors” by Audrey Heimler.
The NSGC has come a long way in the last 30 years. It now boosts over 2,000 active members, hosts an annual conference attended by genetic counselors and other genetic professionals, and publishes position statements and a widely-read journal, The Journal of Genetic Counseling, which continue to shape the field of genetics. The NSGC has even embraced social media with their very own facebook group and twitter account (@NSGC_Org).
So stay tuned, because I will be blogging about the NSGC conference highlights this upcoming week.
