Personalized Medicine by Nellie Shiver

Breast Cancer Treatment of Patients with HER2 Expression

nshiver — 2018-09-07 00:18:48 UTC

Patients' breast cancer tissue is analyzed for gene expression and amount of the HER2 proteins to determine the best treatment.

About 30% of patients with breast cancer have a form that over-expresses a protein called HER2, which is not responsive to standard therapy.

Trastuzumab was approved for patients with HER2 positive tumors in 1998 and further research in 2005 showed that it reduced recurrence by 52% in combination with chemotherapy.

HLA-B*5701 Polymorphism and abacavir (Ziagen) hypersensitivity

izabella_chmil — 2018-09-10 16:40:29 UTC

HLA-B*5701 is an allele (form of a gene) for the human leukocyte (WBC) antigen. It is problematic because it causes an adverse reaction in patients who are treated with the Ziagen drug for Human Immunodeficiency Virus (HIV). 5-8% of patients that use Ziagen to manage their HIV disease experience a hypersensitivity reaction (skin rash, respiratory symptoms, gastrointestinal symptoms) that is in some cases fatal within the first 6 months of using the drug.

The solution for preventing fatal symptoms lies in a genetic test. Genotyping and PCR sequencing are methods medical professionals use for determining whether or not the HLA-B*5701 allele is present. A simple blood or saliva sample can be used to test for the allele. This allows negative side effects of HIV and AIDS treatment to be kept to a minimum, because if the patient cannot be treated with Ziagen, they can be prescribed a different medication, such as an integrase inhibitor, that is safe for them to use.

http://www.hivpv.org/portals/0/files/Patch%20test.jpg

CYP2D6

taylor_schlasta — 2018-09-10 16:40:30 UTC

CYP2D6 occurs as a gene naturally found in the human body and also an enzyme that metabolizes a number of drugs used to cure a variety of illnesses. CYP2D6 is found in antidepressants as well as antiarrhythmic and antihypertensive medicines. CYP2D6 is even found in Benadryl.

Synovial Gene Expression and Rheumatoid Arthritis

reilly_lick — 2018-09-10 16:41:27 UTC

Synovial cells were used in treatment with drugs and deduced from the normal dose of the drugs used with rheumatoid arthritis patients.

The treatment resulted in a decrease in activity of the tested cells in patients with RA.

This treatments was used on cells derived from patients aged 30-60.

There have been 101 genetic areas linked with Rheumatoid Arthritis, most of which found in the immune system. The genetic treatment should target these areas with different genes to prevent inflation caused from the disease.

Methylation systems - glioblastoma

kristine_miller1 — 2018-09-10 16:42:03 UTC

Atorvastatin treatment in people with Hyperlipidemias

ariana_acevedo — 2018-09-10 16:42:35 UTC

Hyperlipidemia is a condition where there are high levels of fat particles in the blood.
Atorvastatin: (Lipitor) used primarily as a lipid lowering agent.
Works by inhibiting HMG-CoA reductase, an enzyme found in liver tissue that plays a key role in producing cholesterol.
Some people prescribe drugs Lipitor experience harsh side effect and such as muscle pain, memory loss, kidney and Liver damage, etc.
Others experience little to no side effects.
About 60% of people of European decent carry a genetic variant that may make them more succeptible to muscle aches.

Dopamine D2 Receptor (DRD2)

matthew_fischer1 — 2018-09-10 16:43:03 UTC

Dopamine out of the 5 other dopamine receptors is a catecholamine neurotransmitter and in the central nervous system it controls a variety of functions including cognition, emotion, movement, food intake and endocrine system regulation. Dopamine D2 receptor is a part of the family of Gprotein coupled receptors

It can be the cause of several conditions like Parkinson's disease, schizophrenia, restless leg syndrome, and endocrine tumors. what causes the diseases and disorders is dysregulation of dopaminergic signal transmission. it also has to do with Tourette's syndrome, post-traumatic stress disorder and certain symptoms associated with the inflictive disorders and schizophrenia.

The D2 receptor also has to do with alcoholism in which people. It can react for people with the A1/A1 allele in which when give Bromocriptine they have seemed to have less craving and anxiety for alcohol. It also seems to be linked with cocaine and opioid addictions. It takes a response to disulfiram which seems to lessen the need for these drugs.
https://www.pharmgkb.org/vips

Erbitux in people with colon cancer

anna_retzbach — 2018-09-10 16:43:36 UTC

Patients that take Erbitux and folfiri live up to 23.5 months opposed to only taking folfiri and living to 19.5 months. Patients who take both medicines have gone 9.5 months without their tumor spreading while patients who only take Folfiri only go about 8.1 months without growth. 57% of patients who take Erbitux and Folfiri have seen their tumor shrink, while 39% of patients who only take Folfiri have seen their tumor shrink.

CXCR4 identified and validated as biomarker for radiation resistance in cancer stem cells

zachary_reeves1 — 2018-09-10 16:44:58 UTC

Recent studies show that cancer stem cells are involved in the initiation of cancerous tumors. Re occurrence of these tumors is the cause of tumor radio resistance, but there is a gene that acts as a marker in different cancers.

This gene is called CXCR4 interacts with the CXCL12 motif ligand and the CXCL12 ligand plays a huge part in modulating the tumor's micro environment.
With these recent discoveries the pathway of the CXCR4 and the CXCL12 signaling is a promising treatment to certain versions of the gene would make using radiation as an invalid form of treatment.

Drug named BAN2401, early Alzheimer's disease

alyssa_daniels — 2018-09-10 16:46:24 UTC

How is BAN2401 used to treat early Alzheimer’s disease

BAN2401 has shown promise in decreasing amyloid in early Alzheimer’s disease, which has been indicated by a study done on July 25, 2018, at the Alzheimer’s Association International conference held in Chicago, Illinois.

Scientists at the Stanford University School of Medicine have shown how amyloid, a protein fragment, begins destroying synapses before it clumps into plaques that lead to nerve cell death. Amyloid have been strongly implicated in ALzheimer’s disease.

Synapse is a junction between two nerve cells, consisting of a minute gap across which impulses pass by diffusion of a neurotransmitter.

Treatment with Ban2401 led to a substantial reduction in brain amyloid plaque around the 10mg/ bi-weekly dosage, which led to the majority of subjects becoming amyloid negative.

BAN2401 is a humanized monoclonal antibody directed against amyloid protofibrils.

Humanized antibodies are antibodies from non-human species whose protein sequences have been modified to increase their similarity to the antibodies produced naturally in the human body.
An antibody is a blood protein produced to counteract a specific antigen
An antigen is a foreign substance that induces an immune response to the body.
Protofibrils are elongated cells that cluster and grow into long slender fibers
There was a reduction brain amyloid that was significant in all doses given.
Results support targeting amyloid in the development of new drugs for AD.
- Who is BAN2401 used for
BAN2401 is meant for people who have early onset Alzheimer’s disease; the goal is to drastically reduce the amount of brain amyloid they may have.

Exondys 51 (Eteplirsen)

olivia_hudak — 2018-09-10 16:46:26 UTC

“A drug designed for treatment, but not a cure, of some mutations that cause Duchenne muscular dystrophy, a genetic degenerative muscle disease.”
"Duchenne muscular dystrophy is a fatal neuromuscular disorder affecting around one in 3,500–5,000 male births that is characterized by progressive muscular deterioration. It is inherited in an X-linked recessive fashion and is caused by loss-of-function mutations in the DMD gene coding for dystrophin, a cytoskeletal protein that stabilizes the plasma membrane of muscle fibers."
Exondys 51 is usually administered once weekly as a 35 to 60 minute intravenous infusion. This drug isn't always effective, as it has a fast clearance from the blood. Since Exondys 51 remains effective in some patients, the FDA approves it. Eteplirsen only targets mutations in a region implicated in 13% of DMD cases.
A topical anesthetic cream may be applied prior to the infusion, on the infusion site.

Diagnosis and treatment of dopa-responsive dystonia

gianna_telesco — 2018-09-10 16:46:26 UTC

Dopa-responsive dystonia is different forms of involuntary muscle contractions that cause repetitive and twisting movements. The drug that can be used for dopa-responsive dystonia is called levodopa. Levodopa is a dopamine promoter. This drug can be used for Parkinson’s disease. Not everyone may respond to levodopa, it may not help your disease at all. For levodopa to work it needs to covert to dopamine and cross the blood-brain barrier. When the brain stimulates the dopamine receptors it will be seen to help the Parkinson’s disease. When it doesn’t work it means that the dopamine receptors didn’t cross the blood- brain barrier in the peripheral tissues to the central nervous system.

Gleevec(instinct mesylate) used to treat chronic myeloid leukemia

paige_mcclain — 2018-09-10 16:47:10 UTC

Gleevec is a medication used with newly diagnosed adult and pediatric patients with Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) in chronic phase. This medication is like chemotherapy to help keep the leukemia under control and stops the cancer from growing. chronic myeloid leukemia is cancer of the blood cells that begins in the bone marrow

ALK positive non-small-cell lung carcinoma

sarah_uher — 2018-09-10 16:52:34 UTC

Non-small cell lung cancer is the leading cause of cancer-related deaths. Lung cancer is a cancer that begins in the lungs and most often occurs in people who smoke. Its symptoms include coughing, chest pains, wheezing, and weight loss. The ALK gene is a driver of cancer pathogenesis and progression. EML4-ALK is the most common ALK fusion in lung cancer. Xalkori is one treatment for non-small cell lung cancer because it inhibits the ALK gene. A generic name for Xalkori is Crizotinib.

Treatment responses to inhaled corticosteroids (ICS)

kathryn_totsky — 2018-09-10 16:55:55 UTC

Melanoma

emily_yurgosky — 2018-09-10 16:57:09 UTC

- Melanoma is the most serious type of skin cancer which can be distinguished by looking for: darkening of skin. darkening of skin mole, change in mole size, or a skin mole with an irregular border.
BRAF Gene
- This gene contains an overactive protein that may contribute to the growth of cancers by allowing abnormal cells to grow and divide rapidly.
Vemurafenib Drug
- This is a type of chemotherapy drug and the most common type is Zelboraf which helps to treat the most serious type of melanoma.

C

william_good — 2018-09-10 16:58:07 UTC

CYP2C19 Gene and Clopidogrel

alexis_pliska — 2018-09-10 22:35:24 UTC

-This gene provides the body with instructions for making an enzyme that is found primarily in liver cells' endoplasmic reticulum.
-The CYP2C19 enzyme works in metabolizing at least 10% of commonly prescribed drugs including clopidogrel (Plavix).
-Clopidogrel, also commonly know as Plavix, is a prescription blood thinner.
-It is used by patients with heart problems for the prevention of strokes, heart attacks, and other heart related issues.
-Clopidogrel is an antiplatelet drug, which prevents platelets from sticking together and forming blood clots.
-Clopidogrel is converted into its active form by the CYP2C19 gene, which is a necessary process for the drug to function in the body.
-The active drug then stops a receptor protein known as P2RY12 that is found on the surface of platelets, and forms a blood clot to seal off damaged blood vessels to prevent further blood loss.

IncRNA in type 2 diabetes

abigail_stalter — 2018-09-11 00:08:31 UTC

IncRna( Long noncoding RNA) are regulaters of gene regulation and cell function. IncRNA is transcripts longer than 200 nucleotides, however not translated into proteins. There are nearly 30,000 different transcripts in humans. IncRNA is getting attention for potential advances. Altered Incrna has shown evidence of poor glycemic control, insulin resistantance, accelerated senescence, and inflammation.

Clopidogrel Therapy and CYP2C19 Genotype

mckenzie_connor13 — 2018-09-11 00:10:15 UTC

Clopidogrel (brand name Plavix) is an antiplatelet agent. Clopidogrel reduces the risk of myocardial infarction (MI) and stroke in patients with acute coronary syndrome (ACS), and in patients with atherosclerotic vascular disease (indicated by a recent MI or stroke, or established peripheral arterial disease). Clopidogrel is also indicated in combination with aspirin in patients undergoing percutaneous coronary interventions (PCI), e.g., the placement of a stent.
The effectiveness of clopidogrel depends on its conversion to an active metabolite by CY2C19. Individuals who carry 2 non-functional copies of the CYP2C19 gene are classified as CYP2C19 poor metabolizers. They have no enzyme activity and cannot activate clopidogrel via the CYP2C19 pathway, which means the drug will have no effect. Approximately 2% of Caucasians, 4% of African Americans, and 14% of Chinese are CYP2C19 poor metabolizers.

The effectiveness of clopidogrel is also reduced in individuals who are CYP2C19 intermediate metabolizers. These individuals carry one non-functional copy of CYP2C19, with either one normal function copy or one increased function copy. For patients with ACS who are undergoing PCI, the 2013 Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for clopidogrel recommends an alternative antiplatelet therapy (e.g., prasugrel, ticagrelor) for CYP2C19 poor or intermediate metabolizers, if there is no contraindication.

FDPS

joseph_jordan1 — 2018-09-11 00:13:39 UTC

Carbohydrate Antigen (CA) 19-9

2018-09-11 14:43:21 UTC

Nanoparticles VS CD19 Childhood Leukemia

2018-09-11 14:43:54 UTC

Doxorubicin encapsulated in polymeric nanoparticles targeted against CD19 can be delivered as treatment for leukemic cells. Leukemic mice treated with these nanoparticles lives significantly longer and were healthier than mice that were not. Specifically targeted delivery of drugs has proven to be more effective than general practices like chemotherapy.

Methylation systems - glioblastoma

kristine_miller1 — 2018-09-11 14:44:21 UTC

Glioblastoma is a rare, fast growing brain tumor, that effects the brain. Can also grow on your spine but it usually grows in the brain. Symptoms of this tumor cause headaches, seizures, and vomiting. This tumor is not hereditary, the growth of this tumor is sporadic.

Treatments to this tumor would be chemotherapy, radiation, or medicine. There is no cure to this, but you can get it surgically removed. There is no guarantee that it will not come back.

A common medication that you would be prescribed is ‘Temozolomide’, which is used to treat brain cancer. Those with the IDH mutation have had an improved survival rate, as opposed to those who had the wild type, which Is more common.

Cystic fibrosis transmembrane conductance regulator (CFTR

william_good — 2018-09-11 14:48:24 UTC

CFTR is regulator is a membrane protein and chloride channel in vertebrates that is encoded by the CFTR gene. The CFTR gene codes for an ABC transporter-class ion channel protein that conducts chloride and thiocyanate ions across epithelial cell membranes.

Gene Expression Profiling Test for Heart Transplant Recipients

madelyn_taylor1 — 2018-09-11 14:53:40 UTC

-Used to predict what procedures and medication will react well within specific patients.
-This method is used with heart transplant patients to make sure the heart they are on the list to receive will match well with the proteins in their own DNA and they will not reject the heart.
-Gene expression profiling tests are used on heart transplant patients or anyone on the list to receive an organ.
-This test is a 20-gene polymerase reaction test that measures the expression of genes associated with cardiac rejection in blood cells.

CYP 450 enzyme and its application to Coumadin/Warfarin Therapy

kayla_kozlowski — 2018-09-11 14:55:29 UTC

Cytochrome P450 enzymes are essential for the body to metabolize medications or compounds that could be potentially toxic. CYP 450 has over 50 enzymes, and 6 of them metabolize 90% of drugs. Genetic variation in these enzymes may change the way a patient reacts to certain drugs. If the CYP 450 enzyme is altered, then they can be inhibited and induced by drugs, causing adverse effects and therapeutic failures.

Warfarin (brand name: Coumadin) is a drug that can inhibit the CYP 450 Enzyme. Warfarin is a blood thinner that can treat and prevent blood clots. It may treat conditions such as: Deep vein Thrombosis, pulmonary embolism, Emoblic Stroke and Arterial Embolism.

When the CYP 450 enzyme is altered, or genetically modified, it may not work as expected and cause unfavorable results. If an individual has one of these altered enzymes and takes Warfarin it could be deadly. A possible side effect could be an increased amount of bleeding. If injured while taking this medication, patients may bleed to death due to a modification in the CYP 450 enzyme. Getting genomic testing done is the only way to get around this problem. Genomic testing allows you to know which medications will interact properly with your body.

Carbohydrate Antigen (CA) 19-9

patrick_lepre — 2018-09-11 14:57:39 UTC

CA 19-9 (carbohydrate antigen 19-9, also called cancer antigen 19-9 or sialylated Lewis (a) angtigen) is a tumor marker that is used primarily in the management of pancreatic cancer. CA 19-9 is an antigen defined by monoclonal antibody binding to CA 19-9, the tumor surface marker Sialyl-Lewis A.

The blood levels of this antigen may also be at a higher than normal in healthy people and in people with non-cancerous conditions such as pancreatitis or bile duct obstruction.

All-trans Retinoic Acid

haylee_sacknievich — 2018-09-11 14:59:41 UTC

Ever since the seminal description by Hillestad in 1957, APL has been well recognized as one of the most fatal forms of acute leukemia at presentation or during induction, primarily because of an associated complex and often catastrophic bleeding disorder. However, the introduction of all-trans retinoic acid (ATRA) in 1985, combined with anthracycline-based chemotherapy, has revolutionized the prognosis of this disease, with unprecedented complete response (CR) rates in excess of 90%, and cure rates of approximately 80%.

How and why do genes age

2018-09-11 15:15:09 UTC

Environmental abuse can cause genes to age
A genes age is constructed by 3 other genes
Smoking sun and the environment around us can cause genes to age and damage them.

1DHC CoQ10 cream is one of the best moisturizing creams on the market. As it is said to revive the skin.

treatment responses to different anti-asthma drugs including inhaled corticosteroid (ICS)

2018-09-11 20:55:32 UTC

These asthma drugs work to control asthma and prevent asthma attacks. Treatment is based on two important goals which are specific for the treatment of acute attacks by opening swollen airways that are limiting breathing, and preventative measures to reduce inflammation and airways resistance and to maintain airflow. Treatment involves various medicines and a change in lifestyle. The best benefits of using inhaled steroids are reduced attacks and improved lung function.

ITGB3 and Mycardial Infarction

alyvia_mroczka1 — 2018-09-12 13:38:43 UTC

The ITGB3 gene provides instructions for making the beta3 subunit of a receptor protein called integrin alphaIIb/beta3 (αIIbβ3), which is found on the surface of small cell fragments called platelets. Platelets circulate in blood and are an essential component of blood clots.

Acute myocardial infarction is the medical name for a heart attack. A heart attack is a life-threatening condition that occurs when blood flow to the heart muscle is abruptly cut off, causing tissue damage. This is usually the result of a blockage in one or more of the coronary arteries. Survivors of a micardial infarction are left with an area of the heart muscle that's irreversibly dead and thus nonfunctional.

The prescription drug, Pravastatin, can be taken to prevent a micardial infarction. Pravastatin is used along with a proper diet to help lower "bad" cholesterol and fats (such as LDL, triglycerides) and raise "good" cholesterol (HDL) in the blood. It belongs to a group of drugs known as "statins." It works by reducing the amount of cholesterol made by the liver.

2018-09-12 20:49:43 UTC

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Afirma Gene Expression classifier (GEC)

emily_keen1 — 2018-09-12 20:51:11 UTC

The Afirma GEC is used to identify patients whose thyroid nodules are benign following cytopathology, so they can avoid unnecessary surgery. This is used for patients with cancerous/ non-cancerous thyroid nodules. "Researchers used the HealthCore Integrated Research Environment (HIRE) database, a nationally representative database of Blue Cross Blue Shield plan medical claims to compare outcomes during follow-up of 201 patients with benign Afirma GEC results to a matched control group of 603 patients with benign cytopathology results. They found that, over an average follow-up period of 20 months – and up to three years, Afirma GEC-benign patients were no more likely to undergo thyroid surgery than the control group (11.4 percent vs. 10.1 percent). The rate of ultrasound follow-up examinations was also similar among the Afirma GEC-benign patients (60.2 percent), compared to the cytopathology-benign group (61.7 percent)." (prnewswire)

Exon 12 and 13 Krass Testing

ashley_stangline — 2018-09-14 18:08:08 UTC

Therapies are looking at the epidermal growth factor receptor(EGFR), like Panitumumab and Cetuximab, which is a treatment for metastatic colorectal carcinoma, Gefitinib for NSCLC, or Erlotinib for NSCLC and for pancreatic carcinoma.
The success of the treatments Panitumumab and Cetuximab is dependent on a non-mutated KRAS gene. If there is a mutation on the KRAS gene, the treatments will not be effective. This will lead to an activated G-protein even in absence of the ligand, like the epidermal growth factor. This can result in further malignant proliferation of the cells despite treatment.