ExonHit has developed its own diagnostic pipeline based on its unique gene to biomarker discovery process. We can detect diseases from peripheral tissues such as blood as well as from diseased tissues.
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Exonhit’s diagnostic pipeline is currently focused on developing tests for 4 key degenerative diseases:
Alzheimer's disease
Description
Dementia is a cerebral dysfunction causes by progressive neuronal destruction. As disease progress, activities of the daily living become more and more limited and in the long term, patients become dependent and need care support. Dementia appears in the second half of life, mainly after 65 years old and its frequency increases with age. Many diseases can induce dementia, the most common form is Alzheimer’s disease.
Facts and Figures
According to the « World Alzheimer Report » (1), in 2010, the number of dementia cases should reach 35.6 millions of people. Mainly because of the increase of the aging population and diagnosis improvement in the low and middle income countries, this number should be multiplied by 3 in 2050, to reach over 100 millions of people. According to a report for Sweden’s Karolinska Hospital by Professor Winblad, the annual cost of the disease worldwide in 2005 was $315 billion, with 72% of the total cost for the high income countries.
In France, there are 860,000 cases of Alzheimer’s disease or related dementias (2) and the annual cost is estimated to €9.9 billion (3). Since 2007, Alzheimer’s disease is a major public health problem and is a real priority in France. The 2008-2012 governmental plan should accelerate the research on Alzheimer’s disease and its diagnosis and improve patients and caregivers life.
2010–2050, Mura et al, European Journal of Neurology (2010)
Diagnosis and Treatment
Nowadays, it’s difficult to be sure about Alzheimer’s disease diagnosis in the early stages of the illness. Alzheimer’s diagnosis is based on neuropsychological tests during consultations with an office based specialist, in memory clinic and memory center of resource and research in an advanced stage of the disease. Most of the time, Alzheimer’s disease stage is already well advanced.
Useful links
- http://www.francealzheimer.org/
- http://www.fondation-mederic-alzheimer.org/
- http://www.plan-alzheimer.gouv.fr/
- http://alz.org/index.asp
- http://www.healthtree.com:artcles/dementia
Breast cancer
A Brief Definition
There are two forms of invasive (infiltrating) breast cancer: invasive ductal carcinoma (IDC) and invasive lobular carcinoma (ILC). IDC is the most common. It starts in the milk ducts, breaks through the duct wall and invades the breast tissue before spreading to other parts of the body. It accounts for around 8 out of 10 invasive breast cancers. ILC starts in the milk glands or lobules and can also spread to other parts of the body. It accounts for about 1 out of 10 invasive breast cancers.
Facts and Figures
Breast Cancer is the most common form of cancer among women and the leading cause of death by cancer in women between 40 and 44 years. In 200, 465.000 women died of breast cancer worldwide.
Diagnosis and Treatment
Breast cancer begins as a slow-growing lump that can be detected through clinical or self-examination of the breasts, mammography, ultrasound testing and biopsy. A mammography can show a breast lump before it can be felt and most countries have implemented a mammography breast cancer screening program from the age of 45/50 years. Less than 0,5% of all patients screened actually have cancer. For women at high risk because of say, a family history of breast cancer, a Magnetic Resonance Imaging (MR) can be performed as well. Any abnormalities lead to further testing to determine predisposition, disease progression and the best treatment. Breast cancers differ in their capacity to spread (metastasize) to other body tissues. Treatment depends on the type, location and stage of development as well as the age and health of the patient. A Lumpectomy removes the tumor and surrounding tissue while a total Mastectomy removes all the breast tissue. Chemotherapy and radiation is used in addition to surgery. Recent tests on the market assess the aggressiveness of the cancer, potential recurrence and treatment response as well.
Useful links
Colorectal cancer
A Brief Definition
Colorectal cancer is a malignant tumor that typically develops from polyps arising on the inner wall of the large intestine. Cancer of the colon and rectum is a leading cause of cancer in both males and females. It is the third leading cause of deaths by cancer worldwide (603.000 deaths in 2007) and the second leading cause of cancer deaths in the western world. While it is known to be influenced by heritage, 80% of cases occur sporadically.
Facts and Figures
Close to 1.6 million people in Western Europe, US and Japan have colorectal cancer in 2009 and 470.000 new cases are forecasted (Business Insight Report). In 2008, 49.960 men and women in the USA died from colorectal cancer (American Cancer Society). More common in the Western world and rare in regions like Asia and Africa, colorectal cancer is the third leading cause of cancer in males and the fourth leading in females across the globe.
Diagnosis and Treatment
Certain polyps (adenomas) are more likely to become cancerous. About 96% of colorectal cancers are adenocarcinomas, arising mostly from adenomas visible which are visible on colonoscopy and x-ray examination. Screening is therefore recommended for early discovery and removal of asymptomatic and benign polyps to prevent cancer developing. Diagnostic tests include Endoscopy (flexible Sigmoidoscop and Colonoscopy), digital rectal exam (DRE), Double Contrast Barium Enema (x-ray), Computed Tomographic, Colonography and Fecal Occult Blood Test (FOBT). Biopsy is used to confirm cancerous tissue and establish the stage of its development. The most common form of treatment is surgery to remove the tumor, part of the colon and nearby lymph nodes, followed by chemo and radiation therapy.
Useful links
Prostate cancer
A Brief Definition
Prostate cancer is a slow-growing tumour in the prostate gland. It can take 5 to 10 years to develop without any symptoms being experienced. While 65% of men over the age of 70 have microscopic evidence of prostate cancer, up to 90% of all prostate cancers remain dormant and clinically unimportant for decades. As it advances, it can spread to local tissue surrounding the prostate gland and metastasize to other parts of the body like the lungs and liver.
Facts and Figures
Prostate cancer is the second leading cause of death from cancer among men in the USA. In 2007, it was the cause of 254,000 deaths worldwide.
Diagnosis and Treatment
Prostate cancer is often detected through an abnormal level of the Prostate Specific Antigen (PSA) in the blood or by an abnormal lump in the prostate gland discovered during a routine digital rectal exam. The prostate gland is located at the base of the urine bladder. The size of a walnut in a young man, it grows larger with age. This change is normal but can cause the same symptoms as prostate cancer, like the difficulty to urinate and cannot be taken as a sure indication of cancer. Prostate cancer is diagnosed when cancerous prostatic cells are identified in biopsy tissue sampled from different places and graded to reflect the aggressiveness of the tumor.Treatment depends on the size and spread of the tumor. If it’s confined to the prostate gland, treatment usually includes surgery, radiation therapy, hormonal therapy or cryotherapy - or all of them combined. There is no cure for metastatic prostate cancer. At best, hormonal therapy and chemotherapy slows down the growth of the tumor and relieves the patient’s symptoms.