Whether you are newly diagnosed with breast cancer in New York, Chicago, or Los Angeles, new advances in technology are available that can determine the biology of your specific tumor type by using genetic testing for breast cancer. This information is used to tailor your cancer treatment plan around your specific tumor biology to give you the best outcome and possibly avoid the side effects of breast cancer treatment. Why have chemotherapy if your tumor wont respond to it? Why have hormonal therapy if you wont receive any benefit?

Targeting Therapy for YOUR cancer

Matching an individuals biology with a selected therapy is called personalized medicine, and attempts to use targeted therapy for breast cancer. Looking at the genes in your tumor and determining how the genes are functioning is the first step in personalizing your medical plan. Once the genomic test has been performed, the breast cancer recurrence test, along with your personal clinical and pathological factors, will tell you and your doctor how your tumor is behaving and to which therapy it will best respond.

Juliann Reiland, MD, Breast Surgeon, Avera Medical Group, Sioux Falls, SD

John Link, MD, Breast Oncology, Breastlink, Orange, CA

The main reason we can individualize your medical treatment is that we can now look at specific genes in your tumor that show how your tumor is behaving: whether it is a more aggressive tumor and requires chemotherapy or whether it is a less aggressive tumor and other milder therapies might work just as effectively but without the caustic side effects of chemotherapy.

Looking at tumor cells gene expression is called genomic profiling, or genomic testing.

Genomic testing measures how your tumor genes are being expressed which tells physicians how your tumor will behave. Once you know what type of tumor you have and how it behaves, you and your doctor can tailor the right approach, or personalize your treatment plan.

No two tumors are the same.Their treatments shouldnt be either.

Personalized medicine is about tailoring your treatment plan for your tumor. In order to do this, you need to know the genomic makeup of your tumor.

How do you do that?

Get a genomic test on your tumor. Find a doctor.

Peter D. Beitsch, MD FACS, Breast Surgical Oncologist, Dallas Surgical Group, Dallas, TX

Below is an edited transcript of a Twitter chat held Oct. 21, 2015 and sponsored by the Tigerlily Foundation (Twitter: @tigerlilycares). The chat was organized under #ybcsempowered Young Breast Cancer Survivors Empowered. The discussion focused on molecular diagnostic (genomic) testing for breast cancer.

TigerLily Twitter Chat Transcript

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Personalized Medicine | Breast Cancer New York & LA

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Recommendation and review posted by sam

Cancer Genetics, Inc. (CGI) is an oncology-focused diagnostics company. We develop tests that can help doctors diagnose cancers and help them select the best treatment for each patient. Our laboratories provide testing for major cancer centers, oncology clinics, and pharmaceutical companies.

Personalized medicine aims to provide each individual patient with the therapy they are most likely to respond to. By assessing each patient and their tumors unique genetic information, we can help doctors provide the most accurate diagnosis, prognosis, and treatment selection available.

Today only 25% of initial cancer treatments are successful. This is in part due to the traditional approach to treatment, which has tended to give each patient with the same disease the same treatment. Because personalized medicine takes into account each tumors and each individuals unique genetic makeup, we are able to provide more individualized treatment and help improve success rates in cancer treatment.

Our groundbreaking work in the area of genetics-based testing is good news for patients because it makes personalized medicine possible. Every person is different and every cancer is different. Genetic-based testing identifies a persons cancer at a molecular level. With that kind of precise information, diagnosis is more specific and your doctor can recommend a treatment plan that is personalized to your needs.

Talk to your doctor to see if genetic-based testing is right for you. And if you or someone you know has been diagnosed with cancer, connect with networks, services and research that can support, inform and guide you.

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Personalized Medicine | Cancer Genetics Inc.

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Traumatic brain injuries and spinal injuries are often permanent, always life-changing, and affect the lives of both victims and their families. These injuries, whether involving permanent paralysis or not, are often caused by the fault of others, whether by surgical error, birth injury, subway or train accident, automobile, truck or motorcycle collisions, construction site mishaps, playground accidents, slip and fall accidents, chemical exposure, defective products or machinery failures.

More than a million Americans experience a brain injury each year, whether a Traumatic Brain Injury (TBI), closed head injury, skull fracture, depressed skull injury, or brain bleed, and 80,000 people have long-term disabilities as a result of their injury. In fact, according to the National Center for Injury Prevention, 1.5 million Americans each year sustain a brain injury. Of those, 50,000 die and over 1 million are treated in hospitals. Many of these victims are children, who are most at risk. Almost 500,000 children suffer serious brain injuries as a result of accidents each year. Additionally, many construction workers suffer brain injuries due to the nature of their work.

Brain trauma is usually the result of a direct blow to the head, which can bruise the brain and damage its internal tissues and blood vessels. The severity of a head or brain injury can range from a mild concussion to a severe injury that results in coma or even death. In a closed head or brain injury, there is no break in the skull and the brain is jarred against the sides of the skull, shearing (or tearing) the internal lining, nerves, tissues, and blood vessels, causing bleeding, bruising, or swelling. These types of injuries are often classified as subdural hematomas, sub-arachnoid bleeds and epidural bleeds. In a penetrating or open head injury, the skull is broken.

The sudden and profound injury the brain sustains at the time of the accident is called the primary brain injury. It can be followed by secondary brain injury, a cascade of cellular, chemical, tissue, or blood vessel changes that evolve in the hours to days after the accident. These changes can further destroy brain tissue.

Spinal cord injuries affect between four and five million Americans yearly, and 400,000 live with the continuing effects of these injuries. Injuries to the neck(the cervical spine) or to the back (the lumbar spine) can result in serious damage to the spinal cord causing permanent, and often catastrophic injuries.

An injury to the spinal cord, the central carrier of signals throughout the body, may be simply a bruise (or contusion), or a partial or complete tear. A mild contusion may cause the temporary loss of some function below the site of the injury. A complete transection, or severing of the spinal cord, causes a total and permanent loss of sensation and movement below the site of the injury.

The spinal column is a flexible, mobile assemblage of individual segments of bone which are called vertebrae. There are seven cervical vertebrae (the neck), twelve thoracic vertebrae (chest) and five lumbar vertebrae (the back) all of which move with the structures above and below. The sacrum (located at the base of the lumbar vertebrae) consists of five vertebrae, all of which are fused forming a solid body. The coccyx (tailbone) is made up of four to five bony segments which are fused together to form one bone, although mobile on the sacrum.

The vertebrae are made up of the vertebral body, lying in front of or anterior to the spinal cord, and the posterior portion, which consists of the neural bony arch which is located on each side of and behind the spinal cord. The bodies of the vertebrae are connected together by the intervertebral disc structures (the tough ring of annulus fibrosis and the sem-gelatinous nucleus pulposus). On its upper or superior, and lower or inferior surfaces each vertebral body is covered with a thin plate of cartilage.

The posterior neural arch is divided into anatomical parts. The arch is connected to the vertebra body on both sides by what is known as the pedicel. The vertebra moves with that above and below not solely through the vertebral bodies but also through bilateral joints called the facets. The facets are located on the posterior neural arches. The facet articulating with the vertebra above is called the superior facet; that with the vertebra below is the inferior facet continuing from the facets posteriorly are the laminate, which meet with each other at the midline. Completing the boney neural arch from the midpoint of the neural arch, posteriorly and projecting backward is the spinous process, to which ligaments and muscles are attached.

The Intra Vertebral discs are interposed between the adjacent structures of the vertebral bodies from the second cervical vertebrae to the sacrum forming strong bonds between the adjacent vertebrae. Each intervertebral disc has two parts, the annulus fibrosis and the nucleus pulposus. The annulus fibrosis is made up of laminae (layers) of fibrous tissue. They are arranged concentrically; the outermost of fibrous tissues, the other of fibrocartilage. The annulus fibrosis surrounds the nucleus pulposus and can be compared to a retaining sheath of fibrous tissue. The tension of the elastic annulus fibrosis keeps the nucleus under pressure. The nucleus pulposus has a pulpy or mucoid consistency. Basically, a disc herniation occurs when the nucleus herniates (protrudes) the annulus fibrosis. Depending on the extent and direction of the herniation (anterior or posterior) the nucleus pulposus can encroach upon the spinal nerve roots and subject them to pressure and/or resulting pain in the areas of the body enervated by the effected nerve roots. Herniated discs may be caused by trauma, such as car, truck and bus accidents, construction accidents and other types of accidents which cause severe trauma to the spinal column. A posterior herniation may cause the nucleus pulposus to encroach on the spinal nerve roots causing severe pain and resulting disability for which surgery may be required.

Where brain injury or spinal injury is the result of someone else's wrongful conduct, experienced attorneys are required. Your lawyer must be prepared to investigate, file suit, and prosecute your claim with intensity and passion. The New York brain and spinal cord injury attorneys at Gair, Gair, Conason, Rubinowitz, Bloom, Hershenhorn, Steigman & Mackauf have the experience, medical knowledge and courtroom track record necessary to make certain that you, or the loved one for whom you are responsible, obtain full compensation covering medical expense, rehabilitation cost, lost wages, supplies and equipment, loss of enjoyment of life and pain and suffering. Our lawyers have achieved outstanding results for our clients who suffer from quadriplegia, paralysis, or loss of brain function as a result of traumatic accidents.

The New York personal injury law firm of Gair, Gair, Conason, Rubinowitz, Bloom, Hershenhorn, Steigman & Mackauf is dedicated to the recovery of full and fair compensation for accident victims whose injuries include brain trauma or spinal cord damage. Our attorneys and staff have the skill and experience to obtain full and fair compensation for those who have sustained such injuries. Brain and spinal injured victims, as well as their families, need lawyers who understand the medical, physical, economic and psychological impacts of Traumatic Brain Injury(TBI) and Spinal Cord Injuries(SCI).

Quadriplegia, paraplegia and brain damage are catastrophic injuries involving damage to the Central Nervous System. Victims sustaining these types of injuries need attorneys who possess the extensive knowledge and experience necessary to secure proper and adequate compensation for those whose lives have been irreparably damaged. At Gair, Gair, Conason, Rubinowitz, Bloom, Hershenhorn, Steigman & Mackauf, our attorneys have extensive background and training in prosecuting cases in New York involving these and other types of injuries to the Central Nervous System. The brain and spinal cord, the two main components of the Central Nervous System, control neural function throughout the body. Knowledge of motor and sensory function is a key element in securing appropriate compensation for the victim of such an injury whether it be paralysis, paresis or brain injury. Not only do our attorneys have more experience in handling these types of injuries than other law firms, but we have obtained among the highest awards in the country for our clients. Indeed, our attorneys have such familiarity with these injuries that we are often called upon to teach and lecture to other attorneys at Continuing Legal Education (CLE) sponsored by educational associations throughout the United States.

At Gair, Gair, Conason, Rubinowitz, Bloom, Hershenhorn, Steigman & Mackauf, every case of this type is thoroughly prepared so that the present and future needs of the victim are accounted for both medically and financially. At the outset, we assemble a team of legal and medical experts chosen for their ability to analyze, document, and persuasively describe their findings with respect to every technical issue of liability and damages that will arise in your case. We consult nationally recognized experts in healthcare, medicine, and life care planning in order to ensure our clients receive full compensation. In cases involving paraplegia or quadriplegia, we work with established healthcare cost data that details known costs associated with current and future nursing care, medical equipment, and other needed medical care including the cost of wheelchairs and required changes to your home and your vehicle. A physical rehabilitative expert (a physiatrist) works with a life care planner to identify and address the physical, medical and day-to-day needs of the victim and individualized plans are prepared to insure that the victim can achieve some level of future independence and a meaningful quality of life. An economist is retained to analyze and quantify the medical costs associated with the life care plan and prepare a report that accounts for rising medical costs, interest and inflation. An experienced Trial Attorney is, in this way, equipped to present all of the damage issues to the jury in clear and understandable terms.

At Gair, Gair, Conason, Rubinowitz, Bloom, Hershenhorn, Steigman & Mackauf, we have obtained many of the largest awards in New York and the United States for clients who have sustained injuries to the Central Nervous System. This is due to our extensive knowledge and background in these types of cases, coupled with our meticulous preparation and attention to detail, which is well-known throughout New York. We pride ourselves in the work we have done for our clients who have suffered such life-altering injuries.

Our goal in all cases is to help you recover the money you will need to make the most of your life in the aftermath of a traumatic accident. For more information regarding our practice and how we can help you, contact a New York brain and spinal cord injury lawyer at Gair, Gair, Conason, Rubinowitz, Bloom, Hershenhorn, Steigman & Mackauf to schedule a free consultation.

Disclaimer: Please be advised that the results achieved in any given case depend upon the exact facts and circumstances of that case. Gair, Gair, Conason, Rubinowitz, Bloom, Hershenhorn, Steigman & Mackauf cannot guarantee a specific result in any legal matter. Any testimonial or case result listed on this site is based on an actual legal case and represents the results achieved in that particular case, and does not constitute a guarantee, warranty or prediction of the outcome of any other legal matter.

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Brain & Spinal Cord Injuries :: New York Brain Injury ...

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Spinal Cord Injury

Damage to the spinal cord usually results in impairments or loss of muscle movement, muscle control, sensation and body system control.

Presently, post-accident care for spinal cord injury patients focuses on extensive physical therapy, occupational therapy, and other rehabilitation therapies; teaching the injured person how to cope with their disability.

A number of published papers and case studies support the feasibility of treating spinal cord injury with allogeneic human umbilical cord tissue-derived stem cells and autologous bone marrow-derived stem cells.

Feasibility of combination allogeneic stem cell therapy for spinal cord injury: a case report co-authored by Stem Cell Institute Founder Dr. Neil Riordan references many of them. Published improvements include improved ASIA scores, improved bladder and/or bowel function, recovered sexual function, and increased muscle control.

The adult stem cells used to treat spinal cord injuries at the Stem Cell Institute come from two sources: the patients own bone marrow (autologous mesenchymal and CD34+) and human umbilical cord tissue(allogeneic mesenchymal). Umbilical cords are donated by mothers after normal, healthy births.

A licensed anesthesiologist harvests bone marrow from both hips under light general anesthesia in a hospital operating room. This procedure takes about 1 1/2 2 hours. Before they are administered to the patient, these bone marrow-derived stem cells must pass testing for quality, bacterial contamination (aerobic and anaerobic) and endotoxin.

All donated umbilical cords are screened for viruses and bacteria to International Blood Bank Standards.

Only about 1 in 10 donated umbilical cords pass our rigorous screening process.

Through retrospective analysis of our cases, weve identified proteins and genes that allow us to screen several hundred umbilical cord donations to find the ones that we know are most effective. We only use these cells and we call them golden cells.

We go through a very high throughput screening process to find cells that we know have the best anti-inflammatory activity, the best immune modulating capacity, and the best ability to stimulate regeneration.

The bodys immune system is unable to recognize umbilical cord-derived mesenchmyal stem cells as foreign and therefore they are not rejected. HUCT stem cells have been administered thousands of times at the Stem Cell Institute and there has never been a single instance rejection (graft vs. host disease). Umbilical cord-derived mesenchymal stem cells also proliferate/differentiate more efficiently than older cells, such as those found in the fat and therefore, they are considered to be more potent.

VIDEO Watch Professor Arnold Caplan explain how this works.

Our stem cell treatment protocol for spinal cord injury calls for a total of 16 injections over the course of 4 weeks.

The bone marrow-derived and umbilical cord tissue-derived stem cells are both administered intravenously by a licensed physician.

They are also injected intrathecally (into the spinal fluid) by an experienced anesthesiologist. Intrathecal injection enables the stem cells to bypass the blood-brain barrier and migrate to the injury site within the spinal canal.

*Upon availability

Proper follow-up is essential for us to monitor your condition after treatment. It also helps us evaluate treatment efficacy and improve our protocols based on reported outcomes over time.

Therefore, one of our medical staff will be contacting you at the following intervals: 1 month, 3 months, 4 months, and 1 year.

Yes, we do. Several of our spinal cord injury patients currently volunteer to speak with prospective patients. Your patient coordinator will be happy to put you in touch with them once your treatment evaluation has been completed.

Weve also published written testimonials, news articles and videos from our spinal cord injury patients. Please take a look!

You may contact us by telephone 1 (800) 980-STEM (toll-free in US) and 1 (954) 358-3382.

To apply for stem cell treatment, please complete this stem cell therapy patient application form.

*Please not that the above treatment outline is typical. However, actual treatment scheduling might vary slightly.

Continue reading here:
Stem Cell Therapy || Spinal Cord Injury || Stem Cell ...

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Spinal cord connects the brain to all the nerves in body. It passes through the center part of the spinal column and is protected by the surrounding vertebra (bone) and soft tissues. Any Injury to the Spinal Column due to trauma, tumor or infection can damage the spinal cord. The area where the spinal cord is injured dictates the level of function, as dysfunction develops below that specific level of injury. Spinal cord injuries are classified as either incomplete or complete. Incomplete injuries show preservation of some function below the injured level. Complete injuries are characterized by a total lack of both motor and sensory functions below the level of the injury.

Spinal cord injury presents with severe pain, limited mobility, or paralysis after a specific incident or trauma to the spine.

Patients with spinal cord injury need to be thoroughly examined to assess any preservation of function, including peri-anal and rectal examinations and testing of all reflexes and motor and sensory functions. Radiographic studies (x-rays, CT scan and MRI) need to be performed following the injury or later to identify the injured spinal column and the traversing spinal cord to identify any level that needs to be treated surgically to take the pressure off the spinal cord or to stabilize a damaged bony structure that is normally protecting the spinal cord.

Surgery to correct a spinal deformity that narrows the spinal canal is often performed but is unlikely to reverse any major spinal cord dysfunction; however, removing bone or disc material from the spinal canal in a timely basis can promote the recovery of an incompletely injured cord. Patients with cervical spinal fractures are often placed in traction to try to realign the spinal canal to relieve any ongoing pressure on the spinal cord. Some spinal injuries that result in spinal cord trauma are stable and do not require surgery. In the cervical spine, fractures are sometimes treated with immobilization devices such as a halo external fixation device. Unstable fractures in the thoraco-lumbar region may require instrumented fusion with bone screws or hooks connected together with metallic rods (fusion).

Excerpt from:
Spinal Cord Injury: Conditions & Diagnoses | UCLA Spine Center

Recommendation and review posted by sam

Causes of a spinal cord injury

Spinal cord injury (SCI) involves damage to the nerves within the bony protection of the spinal canal. The most common cause of SCI is trauma, although damage can occur from various diseases acquired at birth or later in life, from tumors, electric shock, poisoning or loss of oxygen related to surgical or underwater mishaps.

A common misconceptions is that a spinal cord injury means the spinal cord has to be severed in order for a loss of function to occur. In fact, most people who have sustained a SCI, the spinal cord is bruised and intact.

The spinal cord and the brain together make up the central nervous system (CNS). The spinal cord coordinates the body's movement and sensation. Therefore, an injured cord loses the ability to send and receive messages from the brain to the body's systems that control sensory, motor, and autonomic function below the level of injury. Often, this results in some level of paralysis.

Spinal cord injury is an age-old problem, but it wasn't until the 1940s that the prognosis for long-term survival was very optimistic. Prior to World War II, people routinely died of infections to the urinary tract, lungs, or skin. SCI went from a death sentence to a manageable condition. Nowadays, people with spinal cord injury approach the full life span of nondisabled individuals.

Acute care following an injury may involve surgery if the spinal cord appears to be compressed by bone, a herniated disk, or a blood clot. Traditionally, surgeons waited for several days to decompress the spinal cord, believing that operating immediately could worsen the outcome. More recently, many surgeons advocate immediate early surgery.

Generally speaking, after the swelling of the spinal cord begins to go down, most people show some functional improvement after an injury.

With many injuries, especially incomplete injuries (some motor or sensory function preserved below the injury level), a person may recover function eighteen months or more after the injury. In some cases, people with SCI regain some function years after the injury. There is a lot of information and resources to learn about the effects of a spinal cord injury. However, it is important to understand the functions of the spinal cord and its relationship to the brain.

The spinal cord includes neurons and long nerve fibers called axons. Axons in the spinal cord carry signals downward from the brain (along descending pathways) and upward toward the brain (along ascending pathways).

Many axons in these pathways are covered by sheaths of an insulating substance called myelin, which gives them a whitish appearance. Therefore, the region in which they lie is called "white matter." Loss of myelin, which can occur with cord trauma and is the hallmark of such diseases as multiple sclerosis, prevents effective transmission of nerve signals.

The nerve cells themselves, with their tree-like branches called dendrites that receive signals from other nerve cells, make up "gray matter." This gray matter lies in a butterfly-shaped region in the center of the spinal cord.

Like the brain, the spinal cord is enclosed in three membranes (meninges):

The spinal cord is organized into segments along its length, noted by their position along the thirty-three vertebrae of the backbone. Nerves from each segment connect to specific regions of the body, and thus control motor and autonomic functions.

In general, the higher in the spinal column an injury occurs, the more function a person will lose.

Cervical region The segments in the neck, or cervical region, referred to as C1 through C8, control signals to the neck, arms, hands, and, in some cases, the diaphragm. Injuries to this area result in tetraplegia, or as it is more commonly called, quadriplegia.

Thoracic region Nerves in the thoracic or upper back region (T1 through T12) relay signals to the torso and some parts of the arms.

Lumbar and sacral regions

Besides a loss of sensation or motor function, injury to the spinal cord leads to other changes, including loss of bowel, bladder, and sexual function, low blood pressure, autonomic dysreflexia (for injuries above T6), deep vein thrombosis, spasticity, and chronic pain.

Other secondary issues related to injury include pressure ulcers, respiratory complications, urinary tract infections, pain, obesity, and depression.

These complications of a spinal cord injury are mainly preventable with good healthcare, diet, and physical activity.

Several types of cells carry out spinal cord functions, including:

All of these glial cells produce substances that support neuron survival and influence axon growth. However, these cells may also impede recovery following injury; some glial cells become reactive and thereby contribute to formation of growth-blocking scar tissue after injury.

Nerve cells of the brain and spinal cord respond to trauma and damage differently than most other cells of the body, including those in the peripheral nervous system (PNS). The brain and spinal cord are confined within bony cavities that protect them, but this also renders them vulnerable to compression damage caused by swelling or forceful injury.

Cells of the CNS have a very high rate of metabolism and rely upon blood glucose for energy these cells require a full blood supply for healthy functioning; therefore, CNS cells are particularly vulnerable to reductions in blood flow (ischemia).

Other unique features of the CNS are the "blood-brain-barrier" and the "blood-spinal-cord barrier." These barriers, formed by cells lining blood vessels in the CNS, protect nerve cells by restricting entry of potentially harmful substances and cells of the immune system.

Trauma may compromise these barriers, potentially contributing to further damage in the brain and spinal cord. The blood-spinal-cord barrier also prevents entry of some therapeutic drugs.

What is the difference between a complete injury and an incomplete injury?

While there's almost always hope of recovering some function after a spinal cord injury, it is generally true that people with incomplete injuries have a better chance of getting more return.

The sooner muscles start working again, the better the chances are of additional recovery. When muscles come back later, after the first several weeks, they are more likely to be in the arms than in the legs.

As long as there is some improvement and additional muscles recover function, the chances are better that more improvement is possible. The longer there is no improvement, the lower the odds it will start to happen on its own.

A sample of the insights gleaned from the research on the prevalence of SCI include:

These findings have major implications for the treatment of spinal cord and paralysis-related diseases not only for those living with these conditions, but also for their families, caregivers, healthcare providers, and employers.

People who sustain a spinal cord injury are mostly in their teens or twenties, although as the population in general ages, the percentage of older persons with paralysis is increasing.

As the number of people living with paralysis rise and as they age with the injury, the costs associated with treating them increase as well. Each year, paralysis costs the healthcare system billions of dollars. Spinal cord injuries alone cost roughly $40.5 billion annually a 317 percent increase from costs estimated in 1998 ($9.7 billion).

People living with paralysis and spinal cord injuries are also often unable to afford health insurance that adequately covers the complex secondary or chronic conditions that are commonly linked with paralysis.

Currently, there is no cure for spinal cord injuries. However, ongoing research to test surgical and drug therapies is progressing rapidly. Injury progression prevention drug treatments, decompression surgery, nerve cell transplantation, nerve regeneration, and complex drug therapies are all being examined as a means to overcome the effects of spinal cord injury.

The Reeve Foundation has been leading the charge in spinal cord research for over 30 years, creating a framework to translate scientific breakthroughs into vital new therapies. Additionally, we have established programs to help cultivate the next generation of researchers that will safeguard a pipeline of innovation across the field and speed the delivery of cures for spinal cord injury.

If you are looking for more information on spinal cord injury or have a specific question, our information specialists are available business weekdays, Monday through Friday, toll-free at 800-539-7309 from 9am to 5pm ET.

Our Peer & Family Support Program also provides individualized support through a national peer-to-peer mentoring program.

Additionally, the Reeve Foundation maintains a SCI fact sheet with resources from trusted Reeve Foundation sources. Check out our repository of fact sheets on hundreds of topics ranging from state resources to secondary complications of paralysis.

We encourage you to also reach out to other SCI support groups and organizations, including:

Source: American Association of Neurological Surgeons, Craig Hospital, Christopher & Dana Reeve Foundation, The National Institute of Neurological Disorders and Stroke

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Spinal cord injury - Reeve Foundation

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Hypogonadotropic hypogonadism (HH), also known as secondary or central hypogonadism, as well as gonadotropin-releasing hormone deficiency or gonadotropin deficiency (GD), is a condition which is characterized by hypogonadism due to an impaired secretion of gonadotropins, including follicle-stimulating hormone (FSH) and luteinizing hormone (LH), by the pituitary gland in the brain, and in turn decreased gonadotropin levels and a resultant lack of sex steroid production.[1]

The type of HH, based on its cause, may be classified as either primary or secondary. Primary HH, also called isolated HH, is responsible for only a small subset of cases of HH, and is characterized by an otherwise normal function and anatomy of the hypothalamus and anterior pituitary. It is caused by congenital syndromes such as Kallmann syndrome, CHARGE syndrome, and gonadotropin-releasing hormone (GnRH) insensitivity. Secondary HH, also known as acquired or syndromic HH, is far more common than primary HH, and is responsible for most cases of the condition. It has a multitude of different causes, including brain or pituitary tumors, pituitary apoplexy, head trauma, ingestion of certain drugs, and certain systemic diseases and syndromes.[1]

Primary and secondary HH can also be attributed to a genetic trait inherited from the biologic parents. For example, the male mutations of the GnRH coding gene could result in HH. Hormone replacement can be used to initiate puberty and continue if the gene mutation occurs in the gene coding for the hormone. Chromosomal mutations tend to affect the androgen production rather than the HPG axis.

Examples of symptoms of hypogonadism include delayed, reduced, or absent puberty, low libido, and infertility.

Treatment of HH may consist of administration of either a GnRH agonist or a gonadotropin formulation in the case of primary HH and treatment of the root cause (e.g., a tumor) of the symptoms in the case of secondary HH. Alternatively, hormone replacement therapy with androgens and estrogens in males and females, respectively, may be employed.

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Hypogonadotropic hypogonadism - Wikipedia, the free encyclopedia

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Hypogonadism: Introduction

Hypogonadism: medical term for a defect of the reproductive system that results in lack of function of the gonads (ovaries or testes). See detailed information below for a list of 129 causes of Hypogonadism, Symptom Checker, including diseases and drug side effect causes.

Review Causes of Hypogonadism: Causes | Symptom Checker

Listed below are some combinations of symptoms associated with Hypogonadism, as listed in our database. Visit the Symptom Checker, to add and remove symptoms and research your condition.

See full list of 501 Symptom Checkers for Hypogonadism

Some of the possible treatments listed in sources for treatment of Hypogonadism may include:

Review further information on Hypogonadism Treatments.

Some of the comorbid or associated medical symptoms for Hypogonadism may include these symptoms:

See all associated comorbid symptoms for Hypogonadism

Research the causes of these more general types of symptom:

Research the causes of these symptoms that are similar to, or related to, the symptom Hypogonadism:

Read more about causes and Hypogonadism deaths.

Other medical conditions listed in the Disease Database as possible causes of Hypogonadism as a symptom include:

See full list of 129 causes of Hypogonadism - (Source - Diseases Database)

Condition resulting from or characterized by abnormally decreased functional activity of the gonads, with retardation of growth and sexual development. - (Source - Diseases Database)

Incompetence of the gonads (especially in the male with low testosterone); results in deficient development of secondary sex characteristics and (in prepubertal males) a body with long legs and a short trunk - (Source - WordNet 2.1)

Condition resulting from or characterized by abnormally decreased functional activity of the gonads, with retardation of growth and sexual development. - (Source - CRISP)

Hypogonadism is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Hypogonadism, or a subtype of Hypogonadism, affects less than 200,000 people in the US population. - (Source - National Institute of Health)

The list below shows some of the causes of Hypogonadism mentioned in various sources:

See full list of 129 causes of Hypogonadism

This information refers to the general prevalence and incidence of these diseases, not to how likely they are to be the actual cause of Hypogonadism. Of the 129 causes of Hypogonadism that we have listed, we have the following prevalence/incidence information:

See the analysis of the prevalence of 129 causes of Hypogonadism

The following list of conditions have 'Hypogonadism' or similar listed as a symptom in our database. This computer-generated list may be inaccurate or incomplete. Always seek prompt professional medical advice about the cause of any symptom.

Select from the following alphabetical view of conditions which include a symptom of Hypogonadism or choose View All.

The following list of medical conditions have Hypogonadism or similar listed as a medical complication in our database. The distinction between a symptom and complication is not always clear, and conditions mentioning this symptom as a complication may also be relevant. This computer-generated list may be inaccurate or incomplete. Always seek prompt professional medical advice about the cause of any symptom.

Ask or answer a question about symptoms or diseases at one of our free interactive user forums.

Medical story forums: If you have a medical story then we want to hear it.

See a list of all the medical forums

Gonadal failure - (Source - Diseases Database)

Medical Conditions associated with Hypogonadism:

Male reproductive symptoms (577 causes), Female reproductive symptoms (928 causes), Fertility symptoms (370 causes), Women's health symptoms (1177 causes), Men's health symptoms (291 causes), Pregnancy symptoms (699 causes), Sexual symptoms (1838 causes), Intercourse symptoms (258 causes)

Symptoms related to Hypogonadism:

3-M Syndrome, 46, XX Gonadal dysgenesis epibulbar dermoid, Acrocephalopolysyndactyly type 2, Alagille Syndrome (1 cause), Alopecia

Doctor-patient articles related to symptoms and diagnosis:

These general medical articles may be of interest:

See full list of premium articles on symptoms and diagnosis

Tools & Services:

Medical Articles:

Originally posted here:
Hypogonadism - RightDiagnosis.com

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Hypogonadism is a disorder where the testes in men and ovaries in women do not work properly. It can be very distressing. Thanks to the discovery and development of gender specific hormone treatments, men and women with hypogonadism can lead a normal life.

Hypogonadism is the clinical manifestation of the impaired function of the gonads, which in men are the testes and in women are the ovaries. Certain patients have hypogonadism from birth, while others may develop the condition later in their life. The disease has different features in males and in females, before and after the onset of puberty.

If onset is in pre-pubertal boys, signs and symptoms of lack of testicular function include a change of male hair distribution, including facial, chest, and axillary hair, poor development of skeletal muscles, and disturbance of bone growth resulting in abnormally long arms and legs. Blood levels of the male hormone testosterone are low. Also observed are missing laryngeal enlargement, failure of vocal chord thickening, and alterations in body fat distribution. When hypogonadism occurs in males after puberty, low concentration of testosterone in the blood causes lack of energy, weakness, lethargy and diminished sexual function, reduced bone mass and often anaemia.

In girls with hypogonadism before puberty, impaired ovarian function leads to failure of progression through puberty. The absence of periods (primary amenorrhoea) is the most common feature. Blood levels of estradiol are low. When hypogonadism occurs after puberty, irregular periods or absence of periods (secondary amenorrhea) is the usual concern. The patients develop ovarian suppression which manifests as infertility, decreased libido, breast atrophy, and osteoporosis.

Testis and ovary function are part of a hormonal loop which consists of two components in the brain (the hypothalamic region and the pituitary gland) and the gonads themselves. This hypothalamic-pituitary-gonadal axis acts like a waterfall. A hypothalamic generator releases luteinising hormone-releasing hormone (LHRH). In response to these LHRH pulses, the pituitary secretes follicle-stimulating hormone (FSH) and luteinising hormone (LH), which in turn stimulate testis and ovary. The increased blood levels of the gonadal hormones (androgens in men and estrogens in women) leads to lowered FSH and LH secretion at the pituitary level, completing the negative feedback loop.

Hypogonadism may occur if this hypothalamic-pituitary-gonadal axis is interrupted at any level. Primary or hypergonadotrophic hypogonadism results if the gonad does not produce the amount of sex hormone sufcient to suppress secretion of LH and FSH at normal levels. Hypogonadotrophic hypogonadism may result from hypothalamic LHRH deciency or from inability of the pituitary to secrete LH and FSH. Most commonly, hypogonadotrophic hypogonadism is observed after hypothalamic-pituitary injury from tumours, trauma, or radiation.

For male patients with primary hypogonadism, the most common cause is a genetic disorder known as Klinefelter syndrome, a chromosome abnormality which occurs in one case per approximately 1,000 live births. Primary hypogonadism is more common in boys than in girls because the incidence of Klinefelter syndrome is higher than the incidence of the equivalent condition for girls, Turner syndrome. Hypogonadotrophic hypogonadism in men occurs more rarely. It is estimated, though, that less than ve per cent of men with hypogonadotrophic hypogonadism are diagnosed and are receiving hormone replacement therapy (HRT); around a fth of men aged more than 50 years are believed to have androgen deciency.

For women with primary hypogonadism, the most common cause is a genetic disorder known as Turner syndrome, a chromosome abnormality which occurs with an incidence of one case per approximately 5,000 live births. The incidence of hypogonadotropic hypogonadism in females is equal to that in males.

No increase in mortality exists in patients with hypogonadism. Morbidity for men and women includes infertility, anaemia and an increased risk of osteoporosis. There does not appear to be a racial pattern.

The action of gonadotrophin-releasing hormone (GnRH) from the hypothalamus on the pituitary, and the subsequent action of LH and FSH from the pituitary on the testes to stimulate testosterone and sperm production

In men, low blood levels of testosterone should be increased. HRT may be given as a bi-weekly intramuscular injection, as a patch form, or a gel preparation. In Europe, there exist a number of transdermal testosterone therapies, including gels containing one per cent testosterone or in the form of dermal patches containing the active compound. Several formulations are available, including a scrotal patch and several patches that may be applied at other sites. Patches are changed daily. Another treatment option is the prescription of tablets which dissolve in the mouth. Additionally, there are hormone implants. These cylindrical pellets are inserted under the skin in the abdomen, buttock or thigh. They are given once every three to six months. Oral preparations of testosterone are still available but rarely used.

In women, estrogen should be increased. To initiate pubertal development in girls, HRT can be given orally as conjugated estrogen or as a patch applied twice weekly. Transdermal application allows a very low starting dose of estrogen which is desired in young girls with bone ages below 12 years. Starting at higher doses may cause rapid closure of epiphyses and growth will be halted. Women taking estrogen also need to take progesterone replacement unless they have undergone a surgical removal of the uterus. Progesterone agents are added during the last 12 to 14 days of the menstrual cycle to transform the proliferative inner lining of the uterus (endometrium) into the secretory state.

Men and women with hypogonadism can lead a normal life with HRT.

To restore fertility, preparations called human chorionic gonadotrophin (hCG) or human menopausal gonadotrophin (hMG) are given as intramuscular injections to treat men and women, respectively. In men, they act on the testicles and encourage the production of sperm and testosterone. While on gonadotrophin injections, there is no need to take testosterone or estrogen replacement therapy.

At the end of 2003, a new androgen replacement depot received its rst approval in a European country for the treatment of hypogonadism in men. The slow releasing depot formulation means it can be administered by just four injections a year, which is a vast improvement over existing treatments for testosterone deciency, which require an average of 22 injections per year.

At the end of February 2004, it was found that the benets of HRT in males suffering from hypogonadism are maintained for more than a year. Using a one per cent once-daily testosterone gel, researchers reported signicant improvements in sexual function, mood, lean body mass and bone mineral density.

Research has shown a higher incidence of hypogonadotrophic hypogonadism with concomitant conditions such as diabetes and AIDS. According to latest results, some 30 per cent of men suffering from type 2 diabetes are affected, because of the improper functioning of the hypothalamic-pituitary axis. Research into new treatments for patients suffering from diseases such as diabetes and AIDS will therefore reduce the overall prevalence of hypogonadism.

Hypogonadism can be seen as an area in which the development of new medicines over the past twenty years has been very successful. With the improvements in outcome now achievable, the somewhat slower pace of new development can be taken as a sign of a job well done.

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INTRODUCTION

Hypogonadism in a male refers to a decrease in either of the two major functions of the testes: sperm production or testosterone production. These abnormalities can result from disease of the testes (primary hypogonadism) or disease of the pituitary or hypothalamus (secondary hypogonadism). The use of testosterone to treat hypogonadism in adult men, primary or secondary, is reviewed here. The clinical manifestations and diagnosis of male hypogonadism, induction of spermatogenesis in men with secondary hypogonadism, and induction of puberty with testosterone are discussed elsewhere. (See "Clinical features and diagnosis of male hypogonadism" and "Induction of fertility in men with secondary hypogonadism" and "Diagnosis and treatment of delayed puberty", section on 'Testosterone therapy'.)

MECHANISMS OF TESTOSTERONE ACTION

Testosterone has many different biologic effects, at least in part because it can act as three hormones. It can act directly by binding to the androgen receptor. It can also act in tissues that express the enzyme 5-alpha-reductase, via conversion to dihydrotestosterone, which binds more avidly to the androgen receptor than testosterone itself. Finally, it can act as an estrogen following conversion by aromatase to estradiol, which binds to the estrogen receptor.

Testosterone requires conversion to dihydrotestosterone for its action on the external genitalia (which include the prostate gland) and sexual hair. This mechanism provides the basis for the use of the 5-alpha-reductase inhibitor, finasteride, to treat benign enlargement of the prostate and male pattern baldness. (See "Treatment of androgenetic alopecia in men", section on 'Finasteride' and "Medical treatment of benign prostatic hyperplasia", section on '5-alpha-reductase inhibitors'.)

Testosterone requires conversion to estradiol for much of its action on bone. This effect is illustrated by the rare condition of aromatase deficiency in men, which results in failure of epiphyseal closure and severe osteoporosis. Treatment with estradiol corrects both. (See "Epidemiology and etiology of osteoporosis in men", section on 'Estrogen'.)

Testosterone also appears to require conversion to estradiol to stimulate normal sexual function and decrease body fat in men, as shown by an experiment in which men 20 to 50 years old were treated with a gonadotropin-releasing hormone (GnRH) agonist to suppress testosterone and estradiol secretion and then replaced with testosterone, with or without an aromatase inhibitor [1]. Addition of the aromatase inhibitor partially blocked testosterone from increasing libido and erectile function and from decreasing subcutaneous and intraabdominal fat.

Literature review current through: Apr 2016. | This topic last updated: Wed Apr 27 00:00:00 GMT 2016.

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Testosterone treatment of male hypogonadism - UpToDate

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The hormone testosterone is responsible for numerous sex characteristics in men including the growth and development of the sex and reproductive organs. In addition to assisting with fat distribution, bone mass and deepening of the voice, testosterone also helps keep up energy levels, sex drive and fertility. As men age, their production of testosterone naturally begins to decline. However, some men may develop a testosterone deficiency during their life. This disorder is known as hypogonadism.

What Is It? Hypogonadism is one of the main causes of male infertility. It is estimated that 13 million men in the United States alone are affected by hypogonadism, yet less than 10% of these men actually seek treatment for the disorder. Hypogonadism occurs when there is disease or damage to the pituitary gland, testicles or hypothalamus. Any problems in these areas can lead to a deficient production of the gonadotropin hormone.

Testosterone deficiency can occur at any stage of a mans life. Some males are born with the deficiency, making it a congenital abnormality, while others develop the disorder before the onset of puberty. Others still develop it later in life, during adulthood.

Due to the lack of testosterone, men affected by hypogonadism often have troubles producing sperm. The low levels of testosterone also result in an adult male having a low sex drive and erectile dysfunctions. All of these factors combine to make it difficult for a man to father a child.

What Causes Hypogonadism? There are two types of male hypogonadism: primary and secondary. Primary hypogonadism refers to a testosterone deficiency that stems from abnormal testicular function. Secondary hypogonadism is the result of problems with the pituitary gland or the hypothalamus, which controls the secretion of pituitary hormones. When messages from either of these sources become impaired, normal performance of the testicles is compromised.

There are numerous causes for primary hypogonadism such as undescended testicles, excess iron in the blood (known as hemochromatosis), an injury that causes damage to the testicles, mumps, and chemotherapy or radiation treatment. Klinefelters syndrome, which results in a male being born with an extra x chromosome, can lead to impaired testicular growth as well as problems in sperm production and is another cause of primary hypogonadism.

Secondary hypogonadism can be the result of pituitary disorders and inflammatory diseases that affect the pituitary gland. Also, Kallmans syndrome, which affects the proper development of the hypothalamus, ultimately leads to a testosterone deficiency. Additionally, certain medications, like those used to help heartburn or control moods, can affect the level of testosterone produced by the body.

Signs And Symptoms The effects of hypogonadism vary depending on when a man develops the disorder. In cases where hypogonadism is congenital, the gonads fail to produce enough testosterone for proper development of the external genitals and internal reproductive organs. This results in a child whose sex is ambiguous at birth.

When testosterone deficiency becomes present at the start of puberty, normal growth and development is impaired. Muscle mass does not increase as much and the male voice remains high. There is often a lack of facial body hair growth while the penis and testicles fail to mature. The arms and legs may grow to be out of proportion with trunk of the body. There may even be some development of breasts.

The onset of hypogonadism in adulthood can significantly change the physical appearance of men as well as hinder the normal reproductive functions and cause emotional changes that mirror the experience of menopausal women. Signs of hypogonadism in adult males include:

Getting Help If you display any of the symptoms of hypogonadism, make an appointment with your family physician. A blood test that measures testosterone levels can reveal whether or not there is a deficiency. Proper evaluation by an endocrinologist (a doctor that specializes in hormones) will be necessary, though, for a definitive diagnosis. Ask for a referral to an endocrinologist if your family physician does not automatically provide one.

There are different types of treatments available to help those with a testosterone deficiency. If you have primary hypogonadism, the most likely method of treatment will be testosterone replacement therapy (TRT). This will aid in increasing the production of testosterone. However, it may not help you recover your fertility. It may be necessary for you and your partner to employ assisted reproductive technology methods in order to conceive. Those men affected by secondary hypogonadism have a better chance of recovering their fertility through the use of TRT.

There are numerous ways in which TRT can be administered. The most popular method is a patch that can be worn on the scrotum or elsewhere on the body that will allow the body to receive a continuous supply of hormones. Aside from the patch, there are intramuscular injections that are given every two weeks, which men can do at home. A testosterone gel for hypogonadism is also available as is a mucoadhesive that dissolves into a more gel-like substance when you place it on your gum line. This allows the testosterone to be absorbed directly into the blood stream. There are also oral testosterone supplements available but these are rarely used nowadays due to the associated side effects.

Psychological counseling for both yourself and your partner is also a good idea to help you mutually deal with the emotional aspects of the problem. Additionally, you may want to seek a support group in your area where you can talk with other people who are also affected by the disorder.

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Definition (NCI) A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation. Definition (CSP) condition resulting from or characterized by abnormally decreased functional activity of the gonads, with retardation of growth and sexual development. Definition (MSH) Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism). Concepts Disease or Syndrome (T047) MSH D007006 SnomedCT 48130008 English Hypogonadism, Hypogonadotropism, hypogonadism (diagnosis), hypogonadism, Hypogonadism [Disease/Finding], hypogonadotropism, Hypogonadism (disorder), Hypogonadism, NOS Swedish Hypogonadism Japanese , , , , , , , , , , Czech hypogonadismus, Hypogonadismus Finnish Hypogonadismi Russian INFANTILIZM POLOVOI, INFANTILIZM PSIKHOSEKSUAL'NYI, GIPOGONADIZM, INFANTILIZM GENITAL'NYI, , , , Polish Hipogonadyzm, Infantylizm, Niedoczynno gonad Hungarian Hypogonadismus Norwegian Hypogonadisme Spanish hipogonadismo (trastorno), hipogonadismo, Hipogonadismo Dutch hypogonadisme, Gonadisme, hypo-, Hypogonadisme French Hypogonadisme German Hypogonadismus Italian Ipogonadismo Portuguese Hipogonadismo

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knowledge center home stem cell research all about stem cells what are stem cells?

Stem cells are a class of undifferentiated cells that are able to differentiate into specialized cell types. Commonly, stem cells come from two main sources:

Both types are generally characterized by their potency, or potential to differentiate into different cell types (such as skin, muscle, bone, etc.).

Adult or somatic stem cells exist throughout the body after embryonic development and are found inside of different types of tissue. These stem cells have been found in tissues such as the brain, bone marrow, blood, blood vessels, skeletal muscles, skin, and the liver. They remain in a quiescent or non-dividing state for years until activated by disease or tissue injury.

Adult stem cells can divide or self-renew indefinitely, enabling them to generate a range of cell types from the originating organ or even regenerate the entire original organ. It is generally thought that adult stem cells are limited in their ability to differentiate based on their tissue of origin, but there is some evidence to suggest that they can differentiate to become other cell types.

Embryonic stem cells are derived from a four- or five-day-old human embryo that is in the blastocyst phase of development. The embryos are usually extras that have been created in IVF (in vitro fertilization) clinics where several eggs are fertilized in a test tube, but only one is implanted into a woman.

Sexual reproduction begins when a male's sperm fertilizes a female's ovum (egg) to form a single cell called a zygote. The single zygote cell then begins a series of divisions, forming 2, 4, 8, 16 cells, etc. After four to six days - before implantation in the uterus - this mass of cells is called a blastocyst. The blastocyst consists of an inner cell mass (embryoblast) and an outer cell mass (trophoblast). The outer cell mass becomes part of the placenta, and the inner cell mass is the group of cells that will differentiate to become all the structures of an adult organism. This latter mass is the source of embryonic stem cells - totipotent cells (cells with total potential to develop into any cell in the body).

In a normal pregnancy, the blastocyst stage continues until implantation of the embryo in the uterus, at which point the embryo is referred to as a fetus. This usually occurs by the end of the 10th week of gestation after all major organs of the body have been created.

However, when extracting embryonic stem cells, the blastocyst stage signals when to isolate stem cells by placing the "inner cell mass" of the blastocyst into a culture dish containing a nutrient-rich broth. Lacking the necessary stimulation to differentiate, they begin to divide and replicate while maintaining their ability to become any cell type in the human body. Eventually, these undifferentiated cells can be stimulated to create specialized cells.

Stem cells are either extracted from adult tissue or from a dividing zygote in a culture dish. Once extracted, scientists place the cells in a controlled culture that prohibits them from further specializing or differentiating but usually allows them to divide and replicate. The process of growing large numbers of embryonic stem cells has been easier than growing large numbers of adult stem cells, but progress is being made for both cell types.

Once stem cells have been allowed to divide and propagate in a controlled culture, the collection of healthy, dividing, and undifferentiated cells is called a stem cell line. These stem cell lines are subsequently managed and shared among researchers. Once under control, the stem cells can be stimulated to specialize as directed by a researcher - a process known as directed differentiation. Embryonic stem cells are able to differentiate into more cell types than adult stem cells.

Stem cells are categorized by their potential to differentiate into other types of cells. Embryonic stem cells are the most potent since they must become every type of cell in the body. The full classification includes:

Embryonic stem cells are considered pluripotent instead of totipotent because they do not have the ability to become part of the extra-embryonic membranes or the placenta.

A video on how stem cells work and develop.

Although there is not complete agreement among scientists of how to identify stem cells, most tests are based on making sure that stem cells are undifferentiated and capable of self-renewal. Tests are often conducted in the laboratory to check for these properties.

One way to identify stem cells in a lab, and the standard procedure for testing bone marrow or hematopoietic stem cell (HSC), is by transplanting one cell to save an individual without HSCs. If the stem cell produces new blood and immune cells, it demonstrates its potency.

Clonogenic assays (a laboratory procedure) can also be employed in vitro to test whether single cells can differentiate and self-renew. Researchers may also inspect cells under a microscope to see if they are healthy and undifferentiated or they may examine chromosomes.

To test whether human embryonic stem cells are pluripotent, scientists allow the cells to differentiate spontaneously in cell culture, manipulate the cells so they will differentiate to form specific cell types, or inject the cells into an immunosuppressed mouse to test for the formation of a teratoma (a benign tumor containing a mixture of differentiated cells).

Scientists and researchers are interested in stem cells for several reasons. Although stem cells do not serve any one function, many have the capacity to serve any function after they are instructed to specialize. Every cell in the body, for example, is derived from first few stem cells formed in the early stages of embryological development. Therefore, stem cells extracted from embryos can be induced to become any desired cell type. This property makes stem cells powerful enough to regenerate damaged tissue under the right conditions.

Tissue regeneration is probably the most important possible application of stem cell research. Currently, organs must be donated and transplanted, but the demand for organs far exceeds supply. Stem cells could potentially be used to grow a particular type of tissue or organ if directed to differentiate in a certain way. Stem cells that lie just beneath the skin, for example, have been used to engineer new skin tissue that can be grafted on to burn victims.

A team of researchers from Massachusetts General Hospital reported in PNAS Early Edition (July 2013 issue) that they were able to create blood vessels in laboratory mice using human stem cells.

The scientists extracted vascular precursor cells derived from human-induced pluripotent stem cells from one group of adults with type 1 diabetes as well as from another group of healthy adults. They were then implanted onto the surface of the brains of the mice.

Within two weeks of implanting the stem cells, networks of blood-perfused vessels had been formed - they lasted for 280 days. These new blood vessels were as good as the adjacent natural ones.

The authors explained that using stem cells to repair or regenerate blood vessels could eventually help treat human patients with cardiovascular and vascular diseases.

Additionally, replacement cells and tissues may be used to treat brain disease such as Parkinson's and Alzheimer's by replenishing damaged tissue, bringing back the specialized brain cells that keep unneeded muscles from moving. Embryonic stem cells have recently been directed to differentiate into these types of cells, and so treatments are promising.

Healthy heart cells developed in a laboratory may one day be transplanted into patients with heart disease, repopulating the heart with healthy tissue. Similarly, people with type I diabetes may receive pancreatic cells to replace the insulin-producing cells that have been lost or destroyed by the patient's own immune system. The only current therapy is a pancreatic transplant, and it is unlikely to occur due to a small supply of pancreases available for transplant.

Adult hematopoietic stem cells found in blood and bone marrow have been used for years to treat diseases such as leukemia, sickle cell anemia, and other immunodeficiencies. These cells are capable of producing all blood cell types, such as red blood cells that carry oxygen to white blood cells that fight disease. Difficulties arise in the extraction of these cells through the use of invasive bone marrow transplants. However hematopoietic stem cells have also been found in the umbilical cord and placenta. This has led some scientists to call for an umbilical cord blood bank to make these powerful cells more easily obtainable and to decrease the chances of a body's rejecting therapy.

Another reason why stem cell research is being pursued is to develop new drugs. Scientists could measure a drug's effect on healthy, normal tissue by testing the drug on tissue grown from stem cells rather than testing the drug on human volunteers.

The debates surrounding stem cell research primarily are driven by methods concerning embryonic stem cell research. It was only in 1998 that researchers from the University of Wisconsin-Madison extracted the first human embryonic stem cells that were able to be kept alive in the laboratory. The main critique of this research is that it required the destruction of a human blastocyst. That is, a fertilized egg was not given the chance to develop into a fully-developed human.

The core of this debate - similar to debates about abortion, for example - centers on the question, "When does life begin?" Many assert that life begins at conception, when the egg is fertilized. It is often argued that the embryo deserves the same status as any other full grown human. Therefore, destroying it (removing the blastocyst to extract stem cells) is akin to murder. Others, in contrast, have identified different points in gestational development that mark the beginning of life - after the development of certain organs or after a certain time period.

People also take issue with the creation of chimeras. A chimera is an organism that has both human and animal cells or tissues. Often in stem cell research, human cells are inserted into animals (like mice or rats) and allowed to develop. This creates the opportunity for researchers to see what happens when stem cells are implanted. Many people, however, object to the creation of an organism that is "part human".

The stem cell debate has risen to the highest level of courts in several countries. Production of embryonic stem cell lines is illegal in Austria, Denmark, France, Germany, and Ireland, but permitted in Finland, Greece, the Netherlands, Sweden, and the UK. In the United States, it is not illegal to work with or create embryonic stem cell lines. However, the debate in the US is about funding, and it is in fact illegal for federal funds to be used to research stem cell lines that were created after August 2001.

Medical News Today is a leading resource for the latest headlines on stem cell research. So, check out our stem cell research news section. You can also sign up to our weekly or daily newsletters to ensure that you stay up-to-date with the latest news.

This stem cells information section was written by Peter Crosta for Medical News Today in September 2008 and was last updated on 19 July 2013. The contents may not be re-produced in any way without the permission of Medical News Today.

Disclaimer: This informational section on Medical News Today is regularly reviewed and updated, and provided for general information purposes only. The materials contained within this guide do not constitute medical or pharmaceutical advice, which should be sought from qualified medical and pharmaceutical advisers.

Please note that although you may feel free to cite and quote this article, it may not be re-produced in full without the permission of Medical News Today. For further details, please view our full terms of use

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Personalized Cancer Care

UC San Diego Healthnow uses genetic testing to analyze tumors and tailor cancer treatments to individual patients.

See Center for Personalized Cancer Therapy.

Genetic counseling can help you to assess your risk of cancer based on your personal and family medical history. It also helps you determine whether genetic testing is appropriate for yourself or other family members.

We work closely withphysicians and other medical professionals to provide patients with the latestinformation about inherited cancer risks, available genetic testing, and options for individuals known to be at a high risk of developing cancer due to genetic predisposition. Our services include:

We constructa family treeto identify patterns that suggest the presence of an inherited susceptibility to cancer in family members.This includesdetermining whetherany cancer patternfits with a known hereditary cancer syndrome.

We assess a patients personal risk of developing cancer, andidentify appropriate genetic testing options. Read more about the risk assessment process or whether you're at risk for inherited cancer.

Geneticcounselingincludes discussions about issues related to the future risk of developing cancer, the impact of genetic test results on cancer surveillance and prevention strategies, the emotional impact of genetic information on the patient and other family members, and concerns about genetic privacy. Read more about genetic testing and counseling.

We'll assist youindeveloping optimal strategies for the management of cancer risks based on the family history assessment and/or genetic test results..

For more information or to make an appointment:

Phone: 858-822-3240

If you're seeking prenatal or non-cancer genetic testing, please see Medical Genetics.

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Please contact Technical Support for further details: techsupport@stemcell.com

Cryopreserved Leuko Pak and Whole Blood Products:

Donor Screening:Donors are screened for HIV (1 & 2), Hepatitis B, and Hepatitis C.

Cryopreserved products are shipped with negative test results from donor screening that is done within 90 days of collection.

Fresh Leuko Pak and Whole Blood Products:

Donor Screening:Donors are screened for HIV (1 & 2), Hepatitis B, and Hepatitis C.

If the donor was screened within 90 days of donation the product will be shipped with negative test results from donor screening.

If the donor was not screened within 90 days of collection, a test sample will be taken at the time of donation and the product will be shipped before the screening results are available. In the unlikely event that a test result is positive, the customer will be contacted as soon as possible (usually within 24-72 hours from the time of shipment).

Cryopreserved Cord Blood Products:

Donor Screening:Cord blood is only collected from mothers that have tested negative for HIV (1 & 2) and Hepatitis B during their pregnancy. Hepatitis C is tested for at the time of collection.

Cryopreserved products are shipped with negative test results from donor screening.

Fresh Cord Blood Products:

Donor Screening: Cord blood is only collected from mothers that have tested negative for HIV (1 & 2) and Hepatitis B during their pregnancy. Hepatitis C is tested for at the time of collection.

Fresh cord blood products are shipped with negative test results for HIV (1 & 2) and Hepatitis B donor screening. Hepatitis C test results are not available at the time of shipment. In the unlikely event that the Hepatitis C test result is positive, the customer will be contacted as soon as possible (usually within 24-72 hours from the time of shipment).

STEMCELL does not test for infectious diseases other than those listed above and the testing that is done cannot completely guarantee that the donor was virus-free. Therefore THESE PRODUCTS SHOULD BE TREATED AS POTENTIALLY INFECTIOUS and only used following appropriate handling precautions such as those described in biological safety level 2. When handling these products do not use sharps such as needles and syringes.

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Bio-Identical Hormone Replacement Therapy, along with proper nutrition and exercise has the ability to return men and women to the optimal mental, physical, emotional and sexual health they had when they were younger adults. Bio-Identical hormone replacement BHRT therapy has renewed the lives of millions of men and women with hormonal imbalances by significantly improving their quality of life and their health.

Natural, Bio-Identical hormone replacement therapy (BHRT) has been used with great success by patients throughout Europe and the United States since the 1930s to improve the lives of millions of men and women with hormonal imbalances. Unlike conventional hormone therapy, which uses synthetic hormones, Bio-Identical hormone replacement therapy uses naturally derived hormones in the proper levels to eliminate symptoms of hormone imbalance. Bio-Identical hormones are identical to the hormones produced naturally by the human body.

Natural bio-identical hormone replacement therapy, under a doctor's supervision, is a safe and effective treatment that significantly improves the quality of life and health of people suffering from age-related hormone imbalance.

BENEFITS OF HORMONE REPLACEMENT THERAPY FOR WOMEN

Benefits of Bio-Identical hormone replacement therapy for women may include the elimination of night sweats and hot flashes, vaginal dryness and itching, improved energy levels, improved fat loss and muscle tone, improved mood and sex drive, improved memory and concentration and may reduce risk of heart disease.

BENEFITS OF HORMONE REPLACEMENT THERAPY FOR MEN

Benefits of Bio-Identical hormone replacement therapy for men may include improved muscle mass, tone and energy levels resulting in improved exercise endurance, improved fat loss, improved muscle tone, improved mood and sex drive, improved memory and concentration, improved sleep patterns, and improved cholesterol levels.

Bio-Identical hormones are most commonly prescribed to treat symptoms of hormonal imbalance in women and men, such as hot flashes, night sweats, decrease or loss of libido, weight gain, fatigue, mood swings and irritability.

Many patients choose Bio-Identical Hormone Replacement Therapy (BHRT) because it is prescribed on an individualized basis and does not fall into the category of a one-size-fits-all type of approach.

Dr. Jason Collins has extensive experience in both natural and conventional medicine and insures that each Bio-Identical hormone regimen is custom-compounded and is based on each patient's individual diagnostic results, making them not only safer, but also more effective than traditional synthetic hormones.

Studies show that natural Bio-Identical hormone replacement therapy for men and natural Bio-Identical hormone replacement therapy for women significantly improves ones quality of life and health while decreasing the risk of developing chronic illnesses in the future.

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April 28, 2016

A pair of molecular signals controls skin and hair color in mice and humansand could be targeted by new drugs to treat skin pigment disorders like vitiligo, according to a report by scientists at NYU Langone Medical Center.

Finding ways to activate these pathways, researchers say, could lead to therapies that repigment skin cells damaged in vitiligo, a disfiguring illness marked by the loss of skin pigmentation, leaving a blotchy, white appearance. The same pathways could serve as targets for drug therapies that repigment grayed hair cells for people seeking a younger look but who are allergic to cosmetic dyes. Such therapies might even one day reinforce pigment to correct discoloration around scars.

In experiments in mice and human cells, researchers found that control of these skin and early-stage hair cells, known as melanocyte stem cells, is regulated by cell-to-cell signaling reactions. These reactions are part of the endothelin receptor type B (EdnrB) and the Wnt signaling pathways.

Previous research had shown that endothelin proteins and the EdnrB pathway help control blood vessel development, as well as some aspects of cell growth and division, the scientists say. But they believe that their new findings, to be published in the journal Cell Reports online April 28, are the first evidence tying the signaling pathways to the routine growth of cells that produce pigment (melanocytes) and provide color to skin and hair.

They say the study is the first to outline the link between EdnrB and Wnt signaling, confirming that EdnrB coordinates the rapid reproduction of melanocyte stem cells.

"Our study results show that EdnrB signaling plays a critical role in growth and regeneration of certain pigmented skin and hair cells and that this pathway is dependent on a functioning Wnt pathway," says study senior investigator and cell biologist Mayumi Ito, PhD. Ito is an associate professor in the Ronald O. Perelman Department of Dermatology at NYU Langone and a member of NYU Langone's Helen L. and Martin S. Kimmel Center for Stem Cell Biology.

Among the study's key findings, Ito reports, was that mice bred to be deficient in the EdnrB pathway experienced premature graying of their fur.

Study co-lead investigator and postdoctoral fellow Wendy Lee, PhD, says the pathway's involvement in determination of hair color was "clearly evident" in the mice when she first examined them.

In further experiments in mice, stimulating the EdnrB pathway resulted in a 15-fold increase in melanocyte stem cell pigment production within two months, producing what Ito calls "hyperpigmentation." Wounded skin in normally white mice became dark upon healing.

In the latest study, Ito and her team found that blocking Wnt signaling stalled stem cell growth and the maturing of stem cells into normally functioning melanocytes, even when endothelin proteins were present. This led to mice with unpigmented grayish coats.

Ito says her team plans further investigations into how other cell repair and signaling pathways interact with EdnrB and melanocyte stem cells.

According to the National Institute of Arthritis and Musculoskeletal and Skin Diseases, vitiligo occurs in about 1 percent of people worldwide.

Explore further: New research provides clues on why hair turns gray

A new study by researchers at NYU Langone Medical Center has shown that, for the first time, Wnt signaling, already known to control many biological processes, between hair follicles and melanocyte stem cells can dictate ...

Mammals possess the remarkable ability to regenerate a lost fingertip, including the nail, nerves and even bone. In humans, an amputated fingertip can sprout back in as little as two months, a phenomenon that has remained ...

A pathway known for its role in regulating adult stem cells has been shown to be important for hair follicle proliferation, but contrary to previous studies, is not required within hair follicle stem cells for their survival, ...

Regenerative medicine may offer ways to banish baldness that don't involve toupees. The lab of USC scientist Krzysztof Kobielak, MD, PhD has published a trio of papers in the journals Stem Cells and the Proceedings of the ...

The human body maintains a healthy layer of skin thanks to a population of stem cells that reside in the epidermis. Previously, the signals responsible for regulating these so-called 'interfollicular epidermal stem cells' ...

Nicotinamide riboside (NR) is pretty amazing. It has already been shown in several studies to be effective in boosting metabolism. And now a team of researchers at EPFL's Laboratory of Integrated Systems Physiology (LISP), ...

Everything you eat or drink affects your intestinal bacteria, and is likely to have an impact on your health. That is the finding of a large-scale study led by RUG/UMCG geneticist Cisca Wijmenga into the effect of food and ...

In a major breakthrough, scientists at the Gladstone Institutes transformed skin cells into heart cells and brain cells using a combination of chemicals. All previous work on cellular reprogramming required adding external ...

For the first time, scientists studying stool transplants have been able to track which strains of bacteria from a donor take hold in a patient's gut after a transplant. The team, led by EMBL with collaborators at Wageningen ...

Researchers at the Icahn School of Medicine at Mount Sinai say that tiny doses of a cancer drug may stop the raging, uncontrollable immune response to infection that leads to sepsis and kills up to 500,000 people a year in ...

Age-related changes in the human pancreas govern how our bodies respond to rising and falling blood sugar levels throughout our lifetimes, and could affect whether we develop diabetes as adults. But it's been nearly impossible ...

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Recommendation and review posted by Bethany Smith

Frequently Asked Questions About Genetic Testing What is genetic testing?

Genetic testing uses laboratory methods to look at your genes, which are the DNA instructions you inherit from your mother and your father. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

There are many different types of genetic tests. Genetic tests can help to:

Genetic test results can be hard to understand, however specialists like geneticists and genetic counselors can help explain what results might mean to you and your family. Because genetic testing tells you information about your DNA, which is shared with other family members, sometimes a genetic test result may have implications for blood relatives of the person who had testing.

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Diagnostic testing is used to precisely identify the disease that is making a person ill. The results of a diagnostic test may help you make choices about how to treat or manage your health.

Predictive and pre-symptomatic genetic tests are used to find gene changes that increase a person's likelihood of developing diseases. The results of these tests provide you with information about your risk of developing a specific disease. Such information may be useful in decisions about your lifestyle and healthcare.

Carrier testing is used to find people who "carry" a change in a gene that is linked to disease. Carriers may show no signs of the disease; however, they have the ability to pass on the gene change to their children, who may develop the disease or become carriers themselves. Some diseases require a gene change to be inherited from both parents for the disease to occur. This type of testing usually is offered to people who have a family history of a specific inherited disease or who belong to certain ethnic groups that have a higher risk of specific inherited diseases.

Prenatal testing is offered during pregnancy to help identify fetuses that have certain diseases.

Newborn screening is used to test babies one or two days after birth to find out if they have certain diseases known to cause problems with health and development.

Pharmacogenomic testing gives information about how certain medicines are processed by an individual's body. This type of testing can help your healthcare provider choose the medicines that work best with your genetic makeup.

Research genetic testing is used to learn more about the contributions of genes to health and to disease. Sometimes the results may not be directly helpful to participants, but they may benefit others by helping researchers expand their understanding of the human body, health, and disease.

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Benefits: Genetic testing may be beneficial whether the test identifies a mutation or not. For some people, test results serve as a relief, eliminating some of the uncertainty surrounding their health. These results may also help doctors make recommendations for treatment or monitoring, and give people more information for making decisions about their and their family's health, allowing them to take steps to lower his/her chance of developing a disease. For example, as the result of such a finding, someone could be screened earlier and more frequently for the disease and/or could make changes to health habits like diet and exercise. Such a genetic test result can lower a person's feelings of uncertainty, and this information can also help people to make informed choices about their future, such as whether to have a baby.

Drawbacks: Genetic testing has a generally low risk of negatively impacting your physical health. However, it can be difficult financially or emotionally to find out your results.

Emotional: Learning that you or someone in your family has or is at risk for a disease can be scary. Some people can also feel guilty, angry, anxious, or depressed when they find out their results.

Financial: Genetic testing can cost anywhere from less than $100 to more than $2,000. Health insurance companies may cover part or all of the cost of testing.

Many people are worried about discrimination based on their genetic test results. In 2008, Congress enacted the Genetic Information Nondiscrimination Act (GINA) to protect people from discrimination by their health insurance provider or employer. GINA does not apply to long-term care, disability, or life insurance providers. (For more information about genetic discrimination and GINA, see http://www.genome.gov/10002328/genetic-discrimination-fact-sheet/).

Limitations of testing: Genetic testing cannot tell you everything about inherited diseases. For example, a positive result does not always mean you will develop a disease, and it is hard to predict how severe symptoms may be. Geneticists and genetic counselors can talk more specifically about what a particular test will or will not tell you, and can help you decide whether to undergo testing.

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There are many reasons that people might get genetic testing. Doctors might suggest a genetic test if patients or their families have certain patterns of disease. Genetic testing is voluntary and the decision about whether to have genetic testing is complex.

A geneticist or genetic counselor can help families think about the benefits and limitations of a particular genetic test. Genetic counselors help individuals and families understand the scientific, emotional, and ethical factors surrounding the decision to have genetic testing and how to deal with the results of those tests. (See: Frequently Asked Questions about Genetic Counseling)

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Talking Glossary of Genetic Terms

Genetic Testing From Genetics Home Reference: the benefits, costs, risks and limitations of genetic testing.

Genetic Testing Registry [ncbi.nlm.nih.gov] A publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers.

Prenatal Screening [marchofdimes.com] Provides prenatal testing information, including ultrasound, amniocentesis and chorionic villus sampling (CVS).

National Newborn Screening & Genetics Resource Center [genes-r-us.uthscsa.edu] Provides information and resources in the area of newborn screening and genetics.

Genetic Alliance- Genes in Life [genesinlife.org] A guide from the Genetic Alliance with easy-to-read information about genetic testing.

Genetics and Cancer [cancer.gov] An information fact sheet from the National Cancer Institute about genetic testing for hereditary cancers.

Find a Genetic Counselor [nsgc.org] A search engine developed by the National Society of Genetic Counselors.

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Last Updated: August 27, 2015

Read the rest here:
genome.gov - FAQ About Genetic Testing

Recommendation and review posted by Bethany Smith

It is a critical moment for adoptive cell therapies. Clinical progress has been made with Chimeric Antigen Receptors (CAR), T Cell Receptors (TCR), and Tumor Infiltrating Lymphocytes (TIL), making these therapies the frontrunner for curing immune-based diseases. Still, many challenges remain. The Third Annual Adoptive T Cell Therapy event will bring together immunotherapy veterans and visionaries to not just address those challenges, but to provide solutions and showcase emerging opportunities. This years event will address topics such as developing adoptive cell therapies for solid tumors as well as new targets of interest. Emphasis will be placed on clinical case studies to further the understanding of T cell receptors and their biology. Overall, this event will uncover the critical components needed to make adoptive T cell therapies viable.

Day 1 | Day 2 | Download Brochure

WEDNESDAY, APRIL 27

7:00 am Registration and Morning Coffee

8:00 Chairpersons Remarks

Jeff Till, Ph.D., Director, External Innovation, EMD Serono R&D Institute

8:10 Jedi T Cells Provide a Universal Platform for Interrogating T Cell Interactions with Virtually Any Cell Population

Brian D. Brown, Ph.D., Associate Professor, Genetics and Genomic Sciences, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai

We recently generated the first GFP-specific T-cell mouse, called the Jedi (Agudo et al. Nat Biotech 2015). The Jedi technology is the first to facilitate direct visualization of a T-cell antigen, which enables unparalleled detection of antigen-expressing cells, and make it possible to utilize the 100s of cell type-specific GFP-expressing mice, tumors, and pathogens, to gain new insight into T-cell interactions with virtually any cell population in normal and diseased tissues.

8:40 The State-of-the-Art with T cell Receptor-Based Cancer Immunotherapies

Andrew K. Sewell, Ph.D., Distinguished Research Professor, Wellcome Trust Senior Investigator; Research Director, Institute of Infection and Immunity, Henry Wellcome Building, Cardiff University School of Medicine

The ab TCR enables cytotoxic T cells to scan the cellular proteome for anomalies from the cell surface. Tumor-specific TCRs can access a far greater range of targets than are available for antibodies. Engineered TCRs can be used in gene therapy and soluble molecule approaches. Next generation strategies allow circumvention of HLA-restriction. I will discuss future directions in the use of engineered T cells and TCRs in cancer immunotherapy.

9:10 Tumor Infiltrating Lymphocytes for Metastatic Cutaneous and Non-Cutaneous Melanoma: A UK Perspective

John S. Bridgeman, Ph.D., Director, Cell Therapy Research, Cellular Therapeutics Ltd.

We have established the UKs only GMP-compliant and MHRA (Medicines and Healthcare Products Regulatory Agency) licensed unit capable of producing multiple T cell product types (CAR or TCR-modified and natural T cells (TIL)) using clean room free technology. This unit has produced melanoma-derived TIL products which have been successfully returned to patients. This study supports the success of melanoma TIL therapy seen in other centers worldwide and suggests that this is a viable means of treating a disease which has few effective options.

9:40 Design of a Highly Efficacious, Mesothelin-Targeting CAR for Treatment of Solid Tumors

Boris Engels, Ph.D., Investigator, Exploratory Immuno-Oncology, Novartis Institutes for Biomedical Research

The treatment of solid tumors with CAR T cells has shown to be challenging. We describe the design of a fully human CAR targeting mesothelin, a tumor associated antigen overexpressed in mesothelioma, pancreatic and ovarian cancer. The screen of a scFv pool has identified two scFvs, which show enhanced efficacy as CARs, superior to what is currently being used by several groups. We have performed in-depth characterization of the scFvs and CARs to gain insight into structure-activity relationships, which may influence CAR design and efficacy.

10:10 Coffee Break in the Exhibit Hall with Poster Viewing

10:55 ACTR (Antibody Coupled T Cell Receptor): A Universal Approach to T cell Therapy

Seth Ettenberg, Ph.D., CSO, Unum Therapeutics

Fusing the ectodomain of CD16 to the co-stimulatory and signaling domains of 41BB and CD3z generates an Antibody Coupled T cell Receptor (ACTR). T cells expressing this receptor show powerful anti-tumor cytotoxicity when co-administered with an appropriate tumor-targeting antibody. Such cells have potential utility as a therapy to treat a wide range of cancer indications. We will describe efforts specifically targeting B-cell malignancies using a combination of ACTR T cells with rituximab.

11:25 Strategies to Optimize Tumor Infiltrating Lymphocytes (TIL) for Adoptive Cell Therapy

Shari Pilon-Thomas, Ph.D., Assistant Professor, Department of Immunology, Moffitt Cancer Center

Adoptive cell therapy (ACT) with tumor-infiltrating lymphocytes (TIL) has emerged as a powerful immunotherapy for cancer. TIL preparation involves surgical resection of tumors and in vitro expansion of TIL from tumor fragments. ACT depends upon the presence of TIL in tumors, successful expansion of TIL, and effective activation and persistence of T cells after infusion. In this presentation, I will discuss optimization of TIL infiltration into tumors and TIL expansion for ACT in melanoma and other cancers.

11:55 Engineered T Cell Receptors for Adoptive T Cell Therapy in Solid Tumors

Jo Brewer, Ph.D., Director, Cell Research, Adaptimmune Ltd.

NY-ESO-1 is a cancer antigen that is expressed by a wide array of solid and hematological tumors. An enhanced affinity TCR that recognizes this antigen is currently in Phase I/II trials for synovial sarcoma, multiple myeloma, melanoma, ovarian and esophageal cancers. Early clinical data demonstrate encouraging responses and a promising benefit/risk profile.

12:25 pm Cell Based Engineering of TCRs and CARs Using in vitro V(D)J Recombination

Michael Gallo, President, Research, Innovative Targeting Solutions

The ability to generate antibodies and TCRs specific to a MHC/peptide complex provides for new therapeutic opportunities. A novel approach using in vitro V(D)J recombination has been shown to be a robust strategy for targeting these ultra-rare epitopes by generating large de novo repertoires of fully human antibodies, CARs, or T-cell receptors on the surface of mammalian cells. The presentation highlights the advantages of cell based engineering for the generation of cell based adoptive therapies.

12:55 Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own

1:55 Session Break

2:10 Chairpersons Remarks

Jonathan Schneck, Ph.D., M.D., Professor, Pathology, Medicine and Oncology, Johns Hopkins

2:15 Artificial APCs: Enabling Adoptive T Cell Therapies

Marcela V. Maus, M.D., Ph.D., Director, Cellular Immunotherapy, Mass General Hospital Cancer Center

Adoptive T cell therapies require ex vivo T cell culture systems, which can include artificial antigen presenting cells. We will review several types of natural and artificial APCs and how they can be optimized to generate strong memory and effector T cells usable for adoptive transfer.

2:45 Immunoengineering of Artificial Antigen Presenting Cells, aAPC: From Basic Principles to Translation

Jonathan Schneck, Ph.D., M.D., Professor, Pathology, Medicine and Oncology, Johns Hopkins

Artificial antigen presenting cells (aAPCs) are immuno-engineered platforms which advance adoptive immunotherapy by reducing the cost and complexity of generating tumor-specific T cells. Our new approach, termed Enrichment and Expansion (E+E), utilizes paramagnetic nanoparticle-based aAPCs to rapidly expand both shared tumor antigen- and neoepitope-specific CTL. Streamlining the rapid generation of large numbers of T cells in a cost-effective fashion can be a powerful tool for immunotherapy.

3:15 Vector Free Engineering of Immune Cells for Enhanced Antigen Presentation

Armon Sharei, Ph.D., CEO, SQZ Biotech

In this work we describe the use of the vector-free technology to deliver antigen protein directly to the cytoplasm of antigen presenting cells to drive a powerful antigen specific T-cell response. Current efforts to use antigen presenting cells to drive T-cell responses rely on an inefficient process called cross-presentation that relies on material escaping the endosome and entering the cytoplasm. We believe that by delivering antigen directly to the cytoplasm of antigen presenting cells we can overcome this long standing barrier and drive powerful and specific T-cell responses. Our results show that by adoptively transferring antigen presenting cells that have antigen delivered into them we can drive a significant T-cell response. Specifically, we found that this results in a ~50x increase in antigen specific T-cells in vivo when compared to endocytosis. This advance has the potential to dramatically enhance the therapeutic potential of therapeutic vaccination with antigenic material for the treatment of a wide variety of cancers. Indeed, the ability to deliver structurally diverse materials to difficult-to-transfect primary cells indicate that this method could potentially enable many novel clinical applications.

3:45 Refreshment Break in the Exhibit Hall with Poster Viewing

4:45 Problem-Solving Breakout Discussions

Moving Adoptive T Cell Therapies Toward the End Game

Moderator: Richard S. Kornbluth, M.D., Ph.D., President & CSO, Multimeric Biotherapeutics, Inc.

Focusing CAR, TCR, and TIL for Effective Therapies

Moderator: John S. Bridgeman, Ph.D., Director, Cell Therapy Research, Cellular Therapeutics Ltd.

5:45 Networking Reception in the Exhibit Hall with Poster Viewing

7:00 End of Day

Day 1 | Day 2 | Download Brochure

THURSDAY, APRIL 28

8:00 am Morning Coffee

8:30 Chairpersons Remarks

Richard S. Kornbluth, M.D., Ph.D., President & CSO, Multimeric Biotherapeutics, Inc.

8:35 CD40 Ligand (CD40L) and 4-1BB Ligand (4-1BBL) as Keys to Anti-Tumor Immunity

Richard S. Kornbluth, M.D., Ph.D., President & CSO, Multimeric Biotherapeutics, Inc.

CD40 ligand (CD40L) and 4-1BB ligand (also called CD137L) activate immunity by binding to and clustering their receptors. We have solved the receptor clustering problem by creating fusion proteins that contain many TNFSF trimers. In this talk, we will discuss how soluble multi-trimer forms of TNFSFs such as CD40L and 4-1BBL have many important applications in cancer immunotherapy.

9:05 Portable Genetic Adjuvants Inspired by the EBV Latent Membrane Protein-1 (LMP1)

Richard S. Kornbluth, M.D., Ph.D., President & CSO, Receptome, LLC

The strongest CD8+ T cell response in humans occurs in Epstein-Barr Virus (EBV) infection and is due to LMP1, a CD40 receptor homologue. The LMP1 nucleic acid sequence activates dendritic cells and adjuvants RNA, DNA, and viral vaccines. Joining the LMP1 N-terminal domain with IPS-1 forms LMP1-IPS-1, a STING pathway activator and vaccine adjuvant. This technology provides a new approach for using CD40 and the STING pathway for cancer immunotherapy.

9:35 Overview of NK Cell and T Cell Therapies For Hematologic Malignancies After Hematopoietic Stem Cell Transplantation Conrad (Russell) Y. Cruz M.D., Ph.D., Assistant Professor of Pediatrics; Director, Translational Research Laboratory, Program for Cell Enhancement and Technologies for Immunotherapy (CETI), Children's National

10:05 Coffee Break in the Exhibit Hall with Poster Viewing

11:05 Genetic Modification of CAR-T cells for Solid Tumors: Challenges and Advancement

Pranay Khare, Ph.D., Independent Consultant

CAR-T cell engineering for adoptive T cell therapy have consistently shown exciting results by several groups in hematologic malignancies. But, limited success has been achieved in solid tumor field with CAR-T cell therapy. Efforts have been focused to improve CAR-T cells specificity, potency and persistence with variety of non-viral and viral vectors. This talk will focus on different strategies and lessons learned from hematologic malignancies and other novel ways to overcome the obstacles in solid tumor field.

11:35 Engineering Human T Cell Circuitry

Alex Marson, Ph.D., UCSF Sandler Fellow, University California, San Francisco

T cell genome engineering holds great promise for cancer immunotherapies and for cell-based treatments for immune deficiencies, autoimmune diseases and HIV. We have overcome the poor efficiency of CRISPR/Cas9 genome engineering in primary human T cells using Cas9:single-guide RNA ribonucleoproteins (Cas9 RNPs). Cas9 RNPs can promote targeted genome sequence replacement in primary T cells by homology-directed repair (HDR), which was previously unattainable with CRISPR/Cas9. This provides technology for diverse experimental and therapeutic applications.

12:05 pm Engineering the Genome of CAR T Cells: From Therapeutic Procedures to Products

Andr Choulika, Ph.D., CEO and Chairman, Cellectis

Cellectis therapeutics programs are focused on developing products using TALEN-based gene editing platform to develop genetically modified T cells that express a Chimeric Antigen Receptors (CAR) for cancer treatment. The first product, UCART19, T cells has been gene-edited to suppress GvHD and enable resistance to an Alemtuzumab treatment. The objective of this first product is to convert the CART cell therapy for an autologous approach to an off-the-shelve allogeneic CART product that can be produced in a cost effective fashion, stored, shipped anywhere in the world and immediately available to patient with an immediate unmet medical need.

12:35 End of Adoptive T Cell Therapy

5:15 Registration for Dinner Short Courses

Day 1 | Day 2 | Download Brochure

Visit link:
Adoptive T Cell Therapy Conference

Recommendation and review posted by simmons

Finding a gene can be like a treasure hunt.

At first it might seem weird that researchers found a bit of DNA involved in baldness but that they can't figure out why it is involved. The reason for this has to do with the way people find DNA involved in disease.

Human DNA is a long string of 3 billion letters (or bases). Each human is unique because these letters are arranged in a certain order*.

It is too expensive to figure out all of the bases of the DNA from the hundreds or thousands of people involved in a typical study. So what scientists have done is figured out millions of places in human DNA where these letters are often different between people. (This is called the HapMap.)

These differences or SNPs (single nucleotide polymorphisms) work like landmarks to help scientists find which part of the DNA to focus on. They are like clues on a treasure map.

The first part in using a treasure map is narrowing down what part of the world the treasure is in. Imagine the map shows that the treasure is in San Francisco. Then there might be clues that the treasure is near a certain hill or near an oddly shaped tree. Perhaps the treasure is buried near the tower on Mt. Sutro.

With this information, the treasure seekers can get digging. If they know a treasure is in San Francisco, they can't just dig up the whole city. But if they know it is near the tower on Mt. Sutro, then they can dig all over that area.

This is how DNA searches work too. Scientists use SNPs as landmarks to narrow down DNA regions to focus on.

Instead of a treasure map, scientists use the HapMap. They use this map to compare the DNA of people with and without the condition they are interested in. In these studies, scientists compared the DNA of balding and not balding men.

The first study looked at German men. One experiment in this study compared 296 balding men to 347 German men and women who were not seriously bald. The researchers looked at over 500,000 different spots on their DNA and found that bald people shared a number of landmarks in a 1.7 million base chunk of chromosome 20. They had narrowed it down to San Francisco.

More clues led them to a single letter difference that was shared by many of the balding men. A second experiment looked at 319 bald men and compared them to 234 men who weren't bald by the age of 60. This second experiment confirmed the results of the first one.

The second study was done similarly. They compared 578 Swiss men with male pattern baldness to 547 Swiss men who weren't balding. They found a different SNP near the one the first study found. They confirmed that this DNA difference as associated with baldness in over 3000 other individuals from a variety of Northern European countries.

So these two studies have narrowed down where the "treasure" is. They made it to Mt. Sutro. They know that something on a small section of chromosome 20 is partly responsible for balding in Northern European men.

The next steps will be to do some serious digging and to find the treasure. In other words, the researchers need to figure out what in this region is causing these men to bald early. And once they do that, they need to find out why these men go bald. With that information, they might be able to create medicines that can treat baldness.

Usually there is a gene nearby that researchers can investigate. In this case, there isn't. The SNPs are in the middle of nowhere with the nearest gene being at least 350,000 bases away. So researchers have their work cut out for them.

In doing these studies, the researchers also rediscovered the DNA difference that men can inherit from their mom's dad that can lead to early balding.

*The exception is identical twins who have essentially the same DNA but are still unique for environmental reasons.

See original here:
The Genetics of Balding | Understanding Genetics

Recommendation and review posted by Bethany Smith

Stem cell therapies for post-heart attack tissue repair have had modest success at best. Clinical trials have primarily used bone marrow cells, which can promote the growth of new blood vessels, but many studies have shown no benefit. A better alternative may be to use human heart muscle cells (cardiomyocytes), suggests a study published October 22 in Stem Cell Reports, the journal of the International Society for Stem Cell Research.

The authors compared how well human embryonic stem cell-derived cardiomyocytes, embryonic stem cell-derived cardiovascular progenitors, and bone marrow cells worked to repair tissue damage post-heart attack in a rat. The verdict is that both cardiomyocytes and progenitor cells surpassed the healing power of bone marrow cells. And despite the progenitors' abilities to differentiate into more cell types, they demonstrated no statistically significant improvement in heart tissue function, which means the more mature and stable heart muscle cells are a viable option for future therapies.

"There's no reason to go back to more primitive cells, because they don't seem to have a practical advantage over more definitive cell types in which the risk for tumor formation is lower," says senior study author Charles Murry of the University of Washington, Seattle. "The other important finding is that both of these populations are far superior to bone marrow cells. This work is a go signal that tells us to keep moving on to more promising and more powerful cell types in human trials."

The experiments, led by first authors Sarah Fernandes and James J.H. Chong, involved injecting the cells in the walls of the heart and measuring how well heart muscle tissue contracted in follow-up tests 4 weeks later. About ten animals receiving each of the three treatment variables and ten controls receiving a non-therapeutic cell population were included in the study. Injections were given 4 days after heart attacks occurred in the rats, as interventions that are given later don't have as much impact.

James Chong, now an interventional cardiologist at the University of Sydney, added: "We have recently had success in regenerating hearts of monkeys using a similar approach of transplanting stem cell-derived cardiomyocytes. The next goals will be to determine if these large animal experiments show similar improvements in cardiac function, and if so, to begin testing these cells in human patients."

Story Source:

The above post is reprinted from materials provided by Cell Press. Note: Materials may be edited for content and length.

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Cardiac muscle cells as good as progenitors for heart ...

Recommendation and review posted by Bethany Smith

Cancer is a condition triggered by mutations (changes) in the genes of a cell that result in uncontrolled, abnormal cell growth. Some families have gene mutations that are passed down from one generation to the next.

Genetic testing may help you determine if your cancer was due to an inherited gene mutation and if you are at an increased risk of developing a second cancer.

During your initial evaluation period at Cancer Treatment Centers of America (CTCA), you will fill out a family history questionnaire, which includes questions regarding your personal and family history of cancer. This information will help determine if you are a candidate for genetic testing.

The following are some red flags for a hereditary cancer predisposition:

Genetic testing consists of a mouthwash or blood test. Analysis of the sample can determine if you inherited a gene mutation that contributed to your diagnosis of cancer. Genetic testing might also help determine if you are at greater risk of developing the same cancer again or of developing another type of cancer.

Genetic testing can help you make informed decisions about how to manage future risks of cancer. For example, if it is determined that you are at greater risk than the average patient for breast cancer recurrence, we may recommend adding breast MRIs to your routine screenings.

Also, if you are a woman who has breast cancer and you find out that you have an inherited risk, you may be at an increased risk for developing ovarian cancer. We will present you with options to reduce that risk.

The test results can help your CTCA doctor develop a plan of care individualized just for you. Test results can also be of great value to family members. Before and after genetic testing, you may have a genetic counseling session.

Read about genomic tumor assessment at CTCA.

Read the rest here:
Genetic Testing - Cancer Treatment | CTCA

Recommendation and review posted by simmons

Advances in genetics have the potential to revolutionize how physicians diagnose and treat illness. But while the ability to repair defective genes remains far in the future, genetic testing can help patients determine the likelihood of passing on or inheriting certain disorders today. Genetic testing usually refers to the analysis of DNA to identify changes ingene sequence (deletions, additions, or misspellings) or expression levels.Genetic testing can also refer to biochemical tests for gene products (proteins) and for microscopic analysis of stained chromosomes. Genetic testing still is in its early stages, so both patients and experienced physicians may need guidance when it comes to navigating this new and complex territory.

How is genetic testing used clinically? Diagnostic medicine: identify whether an individual has a certain genetic disease. This type of test commonly detects a specific genealteration butis often not able to determine disease severity or age of onset. It is estimated that there are >4000 diseases caused by a mutation in a single gene. Examples of diseases that can be diagnosed by genetic testing includes cystic fibrosis andHuntington's disease.

Predictive medicine: determine whether an individualhas an increased risk for a particular disease. Results from this type of test are usually expressed in terms of probability and are therefore less definitive since disease susceptibility may also be influenced by other genetic and nongenetic (e.g. environmental, lifestyle) factors. Examples of diseases that use genetic testing to identify individuals with increased risk include certain forms of breast cancer (BRCA) andcolorectal cancer.

Pharmacogenomics:classifies subtle variations in an individual's genetic makeup todeterminewhether a drug is suitable for a particular patient, and if so, what would be the safest and most effective dose. Learnmore aboutpharmacogenomics.

Whole-genome and whole-exome sequencing: examines the entire genome or exome to discover genetic alterations that may be the cause of disease. Currently, this type of test is most often used in complex diagnostic cases, but it is being explored for use in asymptomatic individuals to predict future disease. Read more in this article.

How many different types of genetic tests are currently available? There are >2000genetic tests available to physicians to aid in the diagnosis and therapy for >1000 different diseases. Genetic testing is performed for the following reasons:

What are geneticcounselors? Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. They are an integral part of the healthcare team providing information and support to individuals and families who have members with birth defects, genetic disorders, or may be at risk for a variety of inherited disorders. Genetic counselors also serve as educators and a resource for other healthcare professionals and for the general public.

Additional resources

NIH Genetic Testing Registry

National Cancer Institute - Understanding Cancer Series: Gene Testing

US Department of Health and Human Services - Understanding Gene Testing

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Genetic Testing - American Medical Association

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In recent years, much energy has been put into genetic research both through the individual efforts of interested scientists and through the collaboration of international teams in the Human Genome Project. Through this work, we have learned a great deal about how genes function and how they can cause certain problems. We now know how to look for mutations (changes in the gene) that can lead to specific disorders. Genetic testing is possible for some conditions because we can recognize the difference between a normal gene and a disease gene.

Genetic testing presents us with both opportunity and concern. There is opportunity for diagnoses and definitive information and, indeed, a hope that cures may ultimately be possible. On the other hand, we have seen that genetic information can have far-reaching effects on individuals being tested and on their familiesemotionally, socially, ethically.

Genes are specific pieces of information that tell our bodies how to grow, function, and develop. It is estimated that each person has between 50,000-100,000 genes. These genes, which are contained on our 23 pairs of chromosomes, make up our genetic blueprint. Each gene codes for a particular set of instructions, and a genes function is determined by its unique DNA code. DNA consists of four basic building blocks called bases that are linked in a specific order. When a change occurs in the ordering or number of bases, a gene may not function properly. A gene change which can cause a disease is called a mutation.

Genes come in pairs, with one copy inherited from each parent. A condition is called dominantly inherited when only one copy of a disease gene is needed to lead to symptoms of that disease. One example of dominant inheritance is Huntingtons Disease (HD). The HD gene can be passed from one generation to the next and a person who has the HD gene has a 50% chance of passing that gene on to each of his or her children. A person affected by a recessively inherited condition inherits a particular disease gene from each parent. One example is cystic fibrosis in which both parents, by chance, have passed on a CF gene.

Some diseases do not follow simple patterns of inheritance. Many factors influence how a gene works or who will get a disease and when. Mutations in several different genes can lead to the same disease, as we see in some forms of Alzheimers disease. Genes that increase ones risk of getting a certain disease are called susceptibility genes.

Genetic testing involves analyzing a persons DNA. Usually a blood sample is taken, and a molecular genetics lab performs special tests to look for mutations in a gene that lead to disease. Genetic testing is available for only a fraction of the many genetic conditions in existence. There is no test that analyzes a persons DNA and gives him or her a clean bill of health.

Genetic testing can be done to confirm or rule out a certain diagnosis. Testing might interest a person who knows or suspects that he/she is at risk for a genetic disease for which treatment options or preventative measures are available. Also, couples considering having children may wish to know the risk of passing on an inherited disorder (e.g., Huntingtons disease) to offspring.

Some of the more common genetic diseases for which genetic tests are available include sickle cell disease, myotonic dystrophy, cystic fibrosis, Duchennes muscular dystrophy, and Fragile X syndrome.

There are also tests available for some inherited adult-onset disorders, including those described below:

At this time, routine predictive testing of Alzheimers disease genes is not recommended. The APOE4 gene is only a risk factor and it cannot provide definitive information. Since there is no cure for Alzheimers disease, the benefit of learning about a possible predisposition to the disease is questionable.

ALS is inherited in aproximately 10% of cases in an autosomal dominant or autosomal recessive manner. Familial ALS (FALS) has been studied closely to determine that in some families, a mutation in a gene called SOD1 (on chromosome 21) is likely the cause. The vast majority of ALS cases are sporadic with no clear cause. The hope now is that the discovery of a gene causing a disease in certain families may give scientists the lead they have been searching for to reach a cure.

Ataxia Ataxia means a lack of coordination and can be associated with a degenerative disorder. Testing is currently available for spinocerebellar ataxia (SCA) Types1, 2 and 3. Type3 is also known as Machado-Joseph disease. Dementia is not typically seen in SCA Types1, 2 and 3. They are inherited in an autosomal dominant manner, meaning that either men or women can be affected and that an affected person has a 50% chance of passing the gene on to each of his/her children. The genes for SCA Types1, 2 and 3, like the HD gene, have repeated sections of DNA that are larger than those in the normally functioning gene.

Cerebrovascular Disease (Stroke) Scientists studying cerebrovascular disease have suggested that many risk factors for stroke are under genetic influence, for example, having a family history of stroke may be associated with an increased risk. Greater understanding of these factors may lead to early recognition of and intervention in stroke. Genetic effects are subject to environmental influences (e.g., diet, weight).

A person with symptoms of Huntingtons disease may have a genetic test to confirm that he/she has HD. People at risk for HD (meaning that one of their parents has HD) may consider presymptomatic testing to learn if they carry the HD gene and therefore will ultimately develop HD symptoms.

After many years of intense research, the HD gene was identified in 1993. It was discovered that a three base pair section of the DNA of the HD gene is repeated many times in individuals who have HD. The normal functional gene does not have this enlargement. Current testing analyzes the HD gene to look for the presence or absence of this enlargement (or expanded repeat). At this time, the function of the HD gene and how it causes HD is not known.

Multiple Sclerosis (MS) Multiple sclerosis is a disease that randomly attacks the central nervous system. Familial occurrence (not necessarily genetic) in MS is documented, but uncommon. It is thought that the major causes for MS will prove to be immunological and possibly infectious, but certain genes may be required for susceptibility.

Although there are no cures for these adult-onset disorders, genetic testing for actual gene mutations can provide an accurate diagnosis or rule out a specific condition. Having a clear diagnosis can allow a person and his/her family to anticipate disease progression and make informed decisions about the future. In some cases, treatment options may be available to slow the progression of symptoms.

Persons at risk (e.g., a person with a parent with Huntingtons disease) might feel uncertain about their own future and that of their children. A negative test (indicating that a person does not have the gene) can give a tremendous sense of relief. A positive test result can relieve uncertainty and let the person plan for the future.

There are not tests available for every adult-onset disorder. One important limitation for gene testing is that diagnostic information often is not matched by effective treatment strategies or therapies.

Since most genetic tests involve only a blood sample, there is no significant physical risk. Any potential risks have more to do with the way the results of the test might change a persons life.

There can be a major psychological impact on people considering and undergoing genetic testing. The knowledge that one does or does not carry a disease gene can provoke many emotions. Many people with a family history of certain diseases have already seen relatives become affected by the disorder. The news that they have the disease gene can lead to depression or anger. These emotions can impact the person and reverberate throughout the family. A person who finds he/she does not carry a disease gene may feel guilty.

There is also concern about confidentiality. People have expressed concern that testing information could someday be used against them.

As knowledge about the genetic basis of common disorders grows, so does the potential for discrimination in obtaining health or life insurance. People also have concerns about discrimination in employment.

At the state and federal levels, legislation is being pursued to help ensure that genetic information is not used against people. The Americans with Disabilities Act (ADA) provides employment anti-discrimination protection for people with disabilities and neurological disorders. In addition, as an example of state law, the State of California prohibits insurers, to varying degrees, from requiring or requesting genetic tests or their results, from denying coverage on the basis of genetic tests, and from using tests to determine rates and benefits. California law has provisions to protect the privacy of genetic information. However, in this time of flux and changing health care systems, it is not clear to what extent consumers are protected. People considering genetic testing need to consider potential risks for discrimination.

Your primary care physician may be able to make a referral to a specialist such as a neurologist and genetic counselor as appropriate. The National Society of Genetic Counselors may also be a helpful source of referrals. A trained professional can help evaluate family history, document diagnosis and discuss whether testing options are available. In addition, in California there is a Genetically Handicapped Persons Program (see Resources section of this fact sheet).

Genetic counselors are specially trained health professionals who help families learn about and cope with genetic conditions. If a person is considering testing, a genetic counselor would discuss risks, benefits, and limitations and provide balanced information for the individual to make an informed decision about whether to proceed with testing. There are many issues to consider including psychological impact, family issues, and privacy. Genetic counseling can be helpful in addressing these issues. Genetic counselors support families and individuals in making decisions about genetic testing and in adjusting to test results.

The decision about whether to have testing is a very personal one. It should also be voluntary; people should have the test only if they want the information and should not be pressured into testing by relatives or health care providers.

Because the issues are so complex and the consequences so profound, the decision to have a genetic test deserves careful preparation and thought.

As a final note, it is also important to understand that the available information is changing rapidly as genetic research continues. It is likely that more information and genetic tests will be available in the future. Please use the Resource listings below to help stay informed and up to date.

Family Caregiver Alliance 785 Market Street, Suite 750 San Francisco, CA 94103 (415) 434-3388 (800) 445-8106 Web Site: caregiver.org E-mail: [emailprotected]

Family Caregiver Alliance (FCA) seeks to improve the quality of life for caregivers through education, services, research and advocacy.

Through its National Center on Caregiving, FCA offers information on current social, public policy and caregiving issues and provides assistance in the development of public and private programs for caregivers.

For residents of the greater San Francisco Bay Area, FCA provides direct family support services for caregivers of those with Alzheimer's disease, stroke, head injury, Parkinson's and other debilitating disorders that strike adults.

Huntingtons Disease Society of America 140 West 22nd St., 6th Flr. New York, NY 10011-2420 (212) 242-1968 (800) 345-HDSA HDSA maintains a list of genetic testing centers across the U.S.

Genetically Handicapped Persons Program State of California Department of Health Services 714 P St., Rm. 300 Sacramento, CA 95814 (916) 654-0503 (800) 639-0957

Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-4363 (301) 652-5553

National Alliance for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812 (800) 999-6673 (203) 746-6518

National Society of Genetic Counselors 233 Canterbury Dr. Wallingford, PA 19086-6617 (610) 872-7608

Human Genome Management Information System Oak Ridge National Lab 1060 Commerce Park MS 6480 Oak Ridge, TN 37830 (423) 576-6669

Publishes a Primer on Molecular Genetics.

Prepared by Ann Bourguignon, M.S., Genetic Counselor, Kaiser Permanente, Oakland, California, for Family Caregiver Alliance and California's Caregiver Resource Centers, a statewide system of resource centers serving families and caregivers of brain-impaired adults. Funded by the California Department of Mental Health. Printed October 1997. All rights reserved.

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Genetic Testing | Family Caregiver Alliance

Recommendation and review posted by simmons