Type of Physician: Geneticist, Ph.D.

What is a Geneticist, Ph.D.? A certification by the Board of Medical Genetics; practitioners work in association with a medical specialist, are affiliated with a clinical genetics program, or serve as a consultant to medical and dental specialists.

Specialty: Genetics: Medical (Ph.D.)

Common Name:

* Provider Directory Terms of Use:

The WebMD 'Provider Directory' is provided by WebMD for use by the general public as a quick reference of information about Providers. The Provider Directory is not intended as a tool for verifying the credentials, qualifications, or abilities of any Provider contained therein. Inclusion in the Provider Directory does not imply recommendation or endorsement nor does omission in the Provider Directory imply WebMD disapproval.

You are prohibited from using, downloading, republishing, selling, duplicating, or "scraping" for commercial or any other purpose whatsoever, the Provider Directory or any of the data listings or other information contained therein, in whole or in part, in any medium whatsoever.

The Provider Directory is provided on an "AS-IS" basis. WebMD disclaims all warranties, either express or implied, including but not limited to the implied warranties of merchantability and fitness for particular purpose. Without limiting the foregoing, WebMD does not warrant or represent that the Provider Directory or any part thereof is accurate or complete. You assume full responsibility for the communications with any Provider you contact through the Provider Directory. WebMD shall in no event be liable to you or to anyone for any decision made or action taken by you in the reliance on information provided in the Provider Directory.

The use of WebMD Provider Directory by any entity or individual to verify the credentials of Providers is prohibited. The database of Provider information which drives WebMD Provider Directory does not contain sufficient information with which to verify Provider credentials under the standards of the Joint Commission on Accreditation of Healthcare Organizations (JCAHO), National Committee for Quality Assurance (NCQA) of the Utilization Review Accreditation Committee (URAC).

By using the WebMD Provider Directory, you agree to these Terms and Conditions.

See the rest here:
New Haven CT Geneticist, Ph.D. Doctors - Genetic Counseling ...

Recommendation and review posted by sam

05/15/13Portland, Ore.

The breakthrough marks the first time human stem cells have been produced via nuclear transfer and follows several unsuccessful attempts by research groups worldwide

Update 05/23/2013: OHSU releases statement on questions about photos in stem cell paper. Read the statement.

Scientists at Oregon Health & Science University and the Oregon National Primate Research Center (ONPRC) have successfully reprogrammed human skin cells to become embryonic stem cells capable of transforming into any other cell type in the body. It is believed that stem cell therapies hold the promise of replacing cells damaged through injury or illness. Diseases or conditions that might be treated through stem cell therapy include Parkinsons disease, multiple sclerosis, cardiac disease and spinal cord injuries.

The research breakthrough, led by Shoukhrat Mitalipov, Ph.D., a senior scientist at ONPRC, follows previous success in transforming monkey skin cells into embryonic stem cells in 2007. This latest research will be published in the journal Cell online May 15 and in print June 6.

The technique used by Drs. Mitalipov, Paula Amato, M.D., and their colleagues in OHSUs Division of Reproductive Endocrinology and Infertility, Department of Obstetrics & Gynecology, is a variation of a commonly used method called somatic cell nuclear transfer, or SCNT. It involves transplanting the nucleus of one cell, containing an individuals DNA, into an egg cell that has had its genetic material removed. The unfertilized egg cell then develops and eventually produces stem cells.

A thorough examination of the stem cells derived through this technique demonstrated their ability to convert just like normal embryonic stem cells, into several different cell types, including nerve cells, liver cells and heart cells. Furthermore, because these reprogrammed cells can be generated with nuclear genetic material from a patient, there is no concern of transplant rejection, explained Dr. Mitalipov. While there is much work to be done in developing safe and effective stem cell treatments, we believe this is a significant step forward in developing the cells that could be used in regenerative medicine.

Another noteworthy aspect of this research is that it does not involve the use of fertilized embryos, a topic that has been the source of a significant ethical debate.

The Mitalipov teams success in reprogramming human skin cells came through a series of studies in both human and monkey cells. Previous unsuccessful attempts by several labs showed that human egg cells appear to be more fragile than eggs from other species. Therefore, known reprogramming methods stalled before stem cells were produced.

To solve this problem, the OHSU group studied various alternative approaches first developed in monkey cells and then applied to human cells. Through moving findings between monkey cells and human cells, the researchers were able to develop a successful method.

See the original post:
OHSU research team successfully converts human skin cells ...

Recommendation and review posted by sam

The spinal cord consists of the nerves which connect the brain with the body, and is located in the spinal canal. The spinal canal lies inside the human vertebral column or spine, which is formed by all the vertebrae, the intervertebral discs and ligaments - (More information, including pictures, on the human spinal cord can be found here.)

Spinal cord injuries (SCI's) have the potential to cause both loss of sensation and movement below the site of injury in persons who experience them. People may experience a spinal cord injury through trauma to the spine; for example in either a fall, or through a car accident.

People may experience a spinal cord injury which is either incomplete or complete.

In persons who have experienced an incomplete spinal cord injury, they may have some level of both feeling and movement remaining below the site of their injury. Persons with SCI may experience additional issues involving control of urination and bowel movements. People who have spinal cord injuries involving their neck many times require specific devices in order to assist them with breathing.

Terms such as, 'Paraplegia,' 'Quadriplegia,' and, 'Tetraplegia,' are used to describe medical conditions associated with persons who have experienced a spinal cord injury. The terms are used in classifications based on the level and severity of the injury the person has sustained and the affect on their limbs. Persons who live with SCI often find a need to change aspects of both the home and work environments in order to accommodate their disability; however, they continue to live fulfilling and productive lives.

Common Causes of Spinal Cord Injuries

Car accidents are a common cause of SCI - where the spine breaks and exerts pressure on or tears all or a part of the spinal cord; however, there are a number of other causes. Sports injuries, falls, and gunshot wounds are other causes of SCI's. Diseases such as Spina Bifida, Polio, Transverse Myelitis, and Friedreich's Ataxia also cause spinal cord injuries. Damage done to the person's spinal cord may be referred to as a, 'Lesion.' The level of paralysis the person experiences may be referred to as Quadriplegia or Quadriplegia/Tetraplegia if the injury they have sustained is located in their neck area. If the injury they have sustained is in their Lumbar, Thoracic, or Sacral region, the injury may be referred to as Paraplegia.

There is the potential for a person to experience an injury to either their back or neck, resulting in a fracture, without paralysis. If the person's vertebrae have been fractured or dislocated, but their spinal cord has not been damaged, paralysis may not occur. Spinal cord injury is a defining issue in association with SCI.

Complete and Incomplete Spinal Cord Injury

The terms, 'Complete,' and, 'Incomplete,' in reference to a spinal cord injury are associated with the type of lesion in the person's spine.

Persons with incomplete SCI might have some sensation below the lesion, yet have no movement. There are a number of types of incomplete spinal cord injuries. Every person with an incomplete spinal cord injury is unique in regards to their injury.

Spinal column showing numbered vertebrae

Spinal Cord Injury Rehabilitation

Persons with SCI face a path of rehabilitation that can be lengthy.

The rehabilitation process often involves a Spinal Cord Injury Treatment Unit, Rehabilitation Center, or Spinal Injury Unit.

SCI Affects:

Cervical (neck) injuries usually result in full or partial tetraplegia (Quadriplegia). However, depending on the specific location and severity of trauma, limited function may be retained. See the list of C1 to S5 Vertebra functions.

Spinal Cord Injuries (SCI) Include:

Flexion Fracture Pattern

Extension Fracture Pattern

Rotation Fracture Pattern

ASIA SCI Classification

The American Spinal Injury Association (ASIA) first published an international classification of spinal cord injury in 1982, called the International Standards for Neurological and Functional Classification of Spinal Cord Injury.

A - Indicates a "complete" spinal cord injury where no motor or sensory function is preserved in the sacral segments S4-S5.

B - Indicates an "incomplete" spinal cord injury where sensory but not motor function is preserved below the neurological level and includes the sacral segments S4-S5. This is typically a transient phase and if the person recovers any motor function below the neurological level, that person essentially becomes a motor incomplete, i.e. ASIA C or D.

C - Indicates an "incomplete" spinal cord injury where motor function is preserved below the neurological level, and MORE than half of key muscles below the single neurological level of injury have a muscle grade less than 3 (i.e. M 0 - no contraction, no muscle movement, M 1 - trace of contraction, but no movement, or M 2 - movement with gravity eliminated).

D - Indicates an "incomplete" spinal cord injury where motor function is preserved below the neurological level and at least half of the key muscles ( more than 50 percent of the key muscles) below the neurological level have a muscle grade of 3 or more (I.e. M3, M4 or M5, muscle can movement against gravity (3) or with additional resistance (4 & 5)).

E - If motor and sensation function with ISNCSCI are all graded normal (in all segments) and the patient had neurological deficits from SCI before, then the grade is E.

Note: only patients with SCI receive any AIS grade. The following incomplete syndromes are not part of the International Standards examination : central cord syndrome, Brown -Sequard syndrome, anterior cord syndrome, cauda equina syndrome, conus medullaris syndrome and all neurological deficits caused by lesion of lower motor neurons, i.e. brachial plexus lesions.

There is currently no cure for the paralysis associated with spinal cord injuries.

However, there are currently clinical trials being performed involving Olfactory Ensheathing Glial (OEG) cells and Embryonic Stem Cells that show promise.

Read the original:
Spinal Cord Injury (SCI): Types & Treatment News ...

Recommendation and review posted by sam

2

Steven H. Graham VA Pittsburgh Healthcare Neurology 133 University Drive C Pittsburgh, PA 15240 (412) 360-6185

3

Eric A. Ogren VA Pittsburgh Healthcare Neurology 133 University Drive C Pittsburgh, PA 15240 (412) 360-6185

4

Paula R. Clemens University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

5

Maxim D. Hammer UPMC Stroke Institute 200 Lothrop St Ste C400 Pittsburgh, PA 15213 (412) 647-8080

6

Vivek K. Reddy UPMC Stroke Institute 200 Lothrop St Ste C400 Pittsburgh, PA 15213 (412) 647-8080

7

Tudor G. Jovin UPMC Stroke Institute 200 Lothrop St Ste C400 Pittsburgh, PA 15213 (412) 647-8080

8

Kelly A. Kay University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

9

Kathy L. Gardner University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

10

Valerie R. Suski University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

11

Maria-Elizabeth S. Baldwin University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

12

Angela Lu University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

13

Jessica A. Burke University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

14

Eric M. Mcdade University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

15

Ahmed M. El-Dokla University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

16

Arun Antony University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

17

Edward A. Burton University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

18

Anto Bagic University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

19

Gena R. Ghearing University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

20

Galen W. Mitchell University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

21

Rock A. Heyman University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

22

Alexandra Popescu University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

23

Jessica Kappel University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

24

Lawrence R. Wechsler University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

25

David Lacomis University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

26

Sasa Zivkovic University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

27

Houman Homayoun University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

28

John T. Greenamyre University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

29

Simin Khavandgar UPMC Neurology 600 Oxford Dr Monroeville, PA 15146 (412) 858-0337

30

Janet F. Waters University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

31

John J. Doyle University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

32

Samay Jain University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

33

Oscar L. Lopez University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

34

Sarah B. Berman University Pittsburgh Physicians Neurology 3471 5th Ave Ste 810 Pittsburgh, PA 15213 (412) 692-4920

35

Josif Stakic UPMC Headache Center 120 Lytton Ave Ste 250 Pittsburgh, PA 15213 (412) 647-9494

36

Barbara Vogler UPMC Headache Center 120 Lytton Ave Ste 250 Pittsburgh, PA 15213 (412) 647-9494

37

Laurie E. Knepper UPMC Headache Center 120 Lytton Ave Ste 250 Pittsburgh, PA 15213 (412) 647-9494

38

Robert G. Kaniecki UPMC Headache Center 2400 Corporate Dr Ste 100 Wexford, PA 15090 (412) 647-9494

39

Kimberly P. McGonigle UPMC Headache Center 2400 Corporate Dr Ste 100 Wexford, PA 15090 (412) 647-9494

40

Lori A. Shutter University Of Pittsburgh Critical Care Medicine 3550 Terrace St Scaif Hall Pittsburgh, PA 15261 (412) 647-6965

41

Susan M. Kim University Pittsburgh Physician Neurology 1350 Locust St Ste 105 Pittsburgh, PA 15219 (412) 232-8840

42

Marina Zaretskaya Greater Pittsburgh Neurology 1350 Locust St Ste 402 Pittsburgh, PA 15219 (412) 232-8683

43

Frank S. Lieberman UPMC Cancer Pavillion Oncology/Hematology 5150 Centre Ave FL 5 Pittsburgh, PA 15232 (412) 648-6575

44

Ashley Pritchard UPMC Hillman Cancer Center 5115 Centre Ave FL 2 Pittsburgh, PA 15232 (412) 235-1020

45

Jan Drappatz UPMC Cancer Pavillion Oncology/Hematology 5150 Centre Ave FL 5 Pittsburgh, PA 15232 (412) 648-6575

46

Maria J. Sunseri Sleep Medicine Office 4815 Liberty Ave Ste M02 Mellon Pavillion Pittsburgh, PA 15224 (412) 578-5815

47

Satyanarayana Gedela Nationwide Childrens Hospital Neurology 555 S 18th St FL 5 Columbus, OH 43205 (614) 722-4634

48

Yoshimi Sogawa Childrens Hospital Pittsburgh Child Neurology 4401 Penn Ave Fl 8 Pittsburgh, PA 15224 (412) 692-5520

49

Renee A. Pfeiffer Allegheny Neurological Assoc 420 E North Ave Ste 206 Pittsburgh, PA 15212 (412) 359-8850

50

Ashis H. Tayal Allegheny Neurological Assoc 420 E North Ave Ste 206 Pittsburgh, PA 15212 (412) 359-8850

51

Judy S. Jarouse Allegheny Neurological Assoc 420 E North Ave Ste 206 Pittsburgh, PA 15212 (412) 359-8850

View post:
Pittsburgh PA Neurologist Doctors - Multiple Sclerosis (MS ...

Recommendation and review posted by simmons

What is psoriasis? Watch this video as dermatologist David M. Pariser, MD, FAAD, explains why we get psoriasis and the benefits of treatment.

To watch the entire video, which includes inspiring tips from Jerry Mathers, who lives with psoriasis and is best known as the Beaver in the TV show "Leave it to Beaver," visit thePsoriasis video library.

Psoriasis (sore-EYE-ah-sis) is a chronic (long-lasting) disease. It develops when a persons immune system sends faulty signals that tell skin cells to grow too quickly. New skin cells form in days rather than weeks.

The body does not shed these excess skin cells. The skin cells pile up on the surface of the skin, causing patches of psoriasis to appear. Psoriasis may look contagious, but it's not.

You cannot get psoriasis from touching someone who has it. To get psoriasis, a person must inherit the genes that cause it.

If you have psoriasis, you will have one or more of these types:

Some people get more than one type. Sometimes a person gets one type of psoriasis, and then the type of psoriasis changes.

Image used with permission of the American Academy of Dermatology National Library of Dermatologic Teaching Slides.

Link:
Psoriasis - American Academy of Dermatology

Recommendation and review posted by simmons

Gene therapy and cell therapy are overlapping fields of biomedical research with the goals of repairing the direct cause of genetic diseases in the DNA or cellular population, respectively. These powerful strategies are also being focused on modulating specific genes and cell subpopulations in acquired diseases in order to reestablish the normal equilibrium. In many diseases, gene and cell therapy are combined in the development of promising therapies.

In addition, these two fields have helped provide reagents, concepts, and techniques that are elucidating the finer points of gene regulation, stem cell lineage, cell-cell interactions, feedback loops, amplification loops, regenerative capacity, and remodeling.

Gene therapy is defined as a set of strategies that modify the expression of an individuals genes or that correct abnormal genes. Each strategy involves the administration of a specific DNA (or RNA).

Cell therapy is defined as the administration of live whole cells or maturation of a specific cell population in a patient for the treatment of a disease.

Gene therapy: Historically, the discovery of recombinant DNA technology in the 1970s provided the tools to efficiently develop gene therapy. Scientists used these techniques to readily manipulate viral genomes, isolate genes, identify mutations involved in human diseases, characterize and regulate gene expression, and engineer various viral vectors and non-viral vectors. Many vectors, regulatory elements, and means of transfer into animals have been tried. Taken together, the data show that each vector and set of regulatory elements provides specific expression levels and duration of expression. They exhibit an inherent tendency to bind and enter specific types of cells as well as spread into adjacent cells. The effect of the vectors and regulatory elements are able to be reproduced on adjacent genes. The effect also has a predictable survival length in the host. Although the route of administration modulates the immune response to the vector, each vector has a relatively inherent ability, whether low, medium or high, to induce an immune response to the transduced cells and the new gene products.

The development of suitable gene therapy treatments for many genetic diseases and some acquired diseases has encountered many challenges and uncovered new insights into gene interactions and regulation. Further development often involves uncovering basic scientific knowledge of the affected tissues, cells, and genes, as well as redesigning vectors, formulations, and regulatory cassettes for the genes.

While effective long-term treatments for anemias, hemophilia, cystic fibrosis, muscular dystrophy, Gauschers disease, lysosomal storage diseases, cardiovascular diseases, diabetes, and diseases of the bones and joints are elusive today, some success is being observed in the treatment of several types of immunodeficiency diseases, cancer, and eye disorders. Further details on the status of development of gene therapy for specific diseases are summarized here.

Cell therapy: Historically, blood transfusions were the first type of cell therapy and are now considered routine. Bone marrow transplantation has also become a well-established protocol. Bone marrow transplantation is the treatment of choice for many kinds of blood disorders, including anemias, leukemias, lymphomas, and rare immunodeficiency diseases. The key to successful bone marrow transplantation is the identification of a good "immunologically matched" donor, who is usually a close relative, such as a sibling. After finding a good match between the donors and recipients cells, the bone marrow cells of the patient (recipient) are destroyed by chemotherapy or radiation to provide room in the bone marrow for the new cells to reside. After the bone marrow cells from the matched donor are infused, the self-renewing stem cells find their way to the bone marrow and begin to replicate. They also begin to produce cells that mature into the various types of blood cells. Normal numbers of donor-derived blood cells usually appear in the circulation of the patient within a few weeks. Unfortunately, not all patients have a good immunological matched donor. Furthermore, bone marrow grafts may fail to fully repopulate the bone marrow in as many as one third of patients, and the destruction of the host bone marrow can be lethal, particularly in very ill patients. These requirements and risks restrict the utility of bone marrow transplantation to some patients.

Cell therapy is expanding its repertoire of cell types for administration. Cell therapy treatment strategies include isolation and transfer of specific stem cell populations, administration of effector cells, induction of mature cells to become pluripotent cells, and reprogramming of mature cells. Administration of large numbers of effector cells has benefited cancer patients, transplant patients with unresolved infections, and patients with chemically destroyed stem cells in the eye. For example, a few transplant patients cant resolve adenovirus and cytomegalovirus infections. A recent phase I trial administered a large number of T cells that could kill virally-infected cells to these patients. Many of these patients resolved their infections and retained immunity against these viruses. As a second example, chemical exposure can damage or cause atrophy of the limbal epithelial stem cells of the eye. Their death causes pain, light sensitivity, and cloudy vision. Transplantation of limbal epithelial stem cells for treatment of this deficiency is the first cell therapy for ocular diseases in clinical practice.

Several diseases benefit most from treatments that combine the technologies of gene and cell therapy. For example, some patients have a severe combined immunodeficiency disease (SCID) but unfortunately, do not have a suitable donor of bone marrow. Scientists have identified that patients with SCID are deficient in adenosine deaminase gene (ADA-SCID), or the common gamma chain located on the X chromosome (X-linked SCID). Several dozen patients have been treated with a combined gene and cell therapy approach. Each individuals hematopoietic stem cells were treated with a viral vector that expressed a copy of the relevant normal gene. After selection and expansion, these corrected stem cells were returned to the patients. Many patients improved and required less exogenous enzymes. However, some serious adverse events did occur and their incidence is prompting development of theoretically safer vectors and protocols. The combined approach also is pursued in several cancer therapies.

Further information on the progress and status of gene therapy and cell therapy on various diseases is listed here.

Follow this link:
Gene Therapy and Cell Therapy Defined | ASGCT - American ...

Recommendation and review posted by simmons

The Department of Genetic Medicine at Weill Cornell Medicine is a highly specialized form of personalized medicine that involves the introduction of genetic material into a patients cells to fight or prevent disease. This experimental approach requires the use of information and data from an individual's genotype or specific DNA signature, to challenge a disease, select a medication or its dosage, provide a specific therapy, or initiate preventative measures specifically suited to the patient. While this technology is still in its infancy, gene therapy has been used with some success and offers the promise of regenerative cures.

As none of New York's premier healthcare networks, Weill Cornell Medicine's genetic research program includes close collaborations with fellow laboratories such as Memorial Sloan Kettering Cancer Center for stem cell projects, Weill Cornell Medical College in Qatar and Hamad Medical Corporation in Doha, Qatar and Bioinformatics and Biostatistical Genetics at Cornell-Ithaca.

Department of Genetic Medicine Services

Our translational research program includes many projects in the fields of genetic therapies and personalized medicine, and we arestudying gene therapy for a number of diseases, such as combined immuno-deficiencies, hemophilia, Parkinson's, cancer and even HIV using a number of different approaches.

Patients interested in gene therapy are invited to participate in our full range of services, including:

-diagnostic testing

-imaging

-laboratory analysis

-clinical informatics

-managed therapies

In addition, we offer genetic testing to provide options for individuals and families seeking per-emptive strategies for addressing the uncertainties surrounding inherited diseases.The Department of Genetic Medicine at Weill Cornell is a pioneer in the advancement of genetics for patients and their families. These are the strengths we draw upon as we collaborate with our integrated network of partners, including the #1 hospital in New York, New York Presbyterian, to make breakthroughs a reality for our patients.

For more information or to schedule an appointment, call us toll-free at 1-855-WCM-WCMU.

See the rest here:
Department of Genetic Medicine (Research) | - | Weill ...

Recommendation and review posted by Bethany Smith

The HD Med Spa and Clinic, located the the Lakeview neighborhood, Chicago Illinois, near the heart of Boystown, specializes in Microdermabration, Botox treatments, Laser Hair Removal, Lipo B, Cryoprobe Skin Lesion Removal, Facials, Chemical Peels and Naprapathy.

Dr. Harold Diaz also provides Chicago hormone replacement therapy, as well as physician-supervised bioidentical testosterone / estrogen replacement programs and secretogogue therapies designed to treat adult men and women over the age of 3O suffering from symptoms and problems associated with low hormone levels (andropause/menopause) within the Chicago area. See Dr. Diaz's blog for more information about hormone replacement therapy.

Our weight loss program is a contemporary, physician-conducted and monitored approach to weight loss, based on current research and the clinical experience of Dr. Diaz. The program focuses on lifestyle changes, which eventually will help patients keep off unwanted or extra pounds.

If you have any questions or would like to make an appointment, Contact Dr. Diaz.

If you have any questions or would like to make an appointment for a naprapathic treatment, please Contact Dr. Venice.

Treatments and Services:

Read more from the original source:
HD Medspa & Clinic | Lakeview Neighborhood, Chicago, for ...

Recommendation and review posted by Bethany Smith

Reviewed April 2010

Sensorineural deafness and male infertility is a condition characterized by hearing loss and an inability to father children. Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does not worsen over time. Males with this condition produce sperm that have decreased movement (motility), causing affected males to be infertile.

The prevalence of sensorineural deafness and male infertility is unknown.

Sensorineural deafness and male infertility is caused by a deletion of genetic material on the long (q) arm of chromosome 15. The signs and symptoms of sensorineural deafness and male infertility are related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Researchers have determined that the loss of a particular gene on chromosome 15, the STRC gene, is responsible for hearing loss in affected individuals. The loss of another gene, CATSPER2, in the same region of chromosome 15 is responsible for the sperm abnormalities and infertility in affected males. Researchers are working to determine how the loss of additional genes in the deleted region affects people with sensorineural deafness and male infertility.

Read more about the CATSPER2 and STRC genes and chromosome 15.

Sensorineural deafness and male infertility is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 in each cell have a deletion. The parents of an individual with sensorineural deafness and male infertility each carry one copy of the chromosome 15 deletion, but they do not show symptoms of the condition.

Males with two chromosome 15 deletions in each cell have sensorineural deafness and infertility. Females with two chromosome 15 deletions in each cell have sensorineural deafness as their only symptom because the CATSPER2 gene deletions affect sperm function, and women do not produce sperm.

These resources address the diagnosis or management of sensorineural deafness and male infertility and may include treatment providers.

You might also find information on the diagnosis or management of sensorineural deafness and male infertility in Educational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

You may find the following resources about sensorineural deafness and male infertility helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

View original post here:
Sensorineural deafness and male infertility - Genetics ...

Recommendation and review posted by Bethany Smith

Osteoarthritis is the most common type of arthritis and describes the degeneration of the joints. The body is constantly repairing the daily wear and tear on our joints; however, osteoarthritis develops when the body cant maintain this repair process. Knee osteoarthritis is the most common form of osteoarthritis affecting 50% of people aged 65 and above. Whilst most experience relatively mild symptoms, for one in ten people, their knee pain and joint stiffness are debilitating.

Osteoarthritis (OA) is a leading cause of pain and disability, worldwide. Cartilage breakdown partly explains the degenerative nature of knee osteoarthritis, but a major part of the process is due to muscular weakness and loss of control. An effective therapy must then reduce stress on the knee and prevent muscular imbalances that occur as the joint bends and rotates. AposTherapy redistributes the forces acting on the affected area by re-aligning the body and restoring neuromuscular control. Patients report a significant reduction in pain and improvement in their joint function and quality of life.

OA is the most common type of arthritis and describes the degeneration of the joints. The body is constantly repairing the daily wear and tear on our joints; however, it develops when the body cant maintain this repair process. OA in the knee is the most common form of osteoarthritis affecting 50% of people aged 65 and above. Whilst most experience relatively mild symptoms, for one in ten people, their knee pain and joint stiffness are debilitating.

Over the last two decades research has shown that the muscles that stabilise and move the joint play a key role in the development and the deterioration of knee OA. Weakness and loss of neuromuscular control of the quadriceps, as well as other muscles around the knee and the hip, is thought to be a precursor to the degenerative process. The first apparent change is usually cartilage damage, which increases over time, eventually causing the underlying bony surface to become exposed with growth on the edges of the joint, visible by X-ray.

Symptoms are often worse on waking up in the morning, after over-activity, as well as sitting or standing for a prolonged period of time. As the tissues around the joints become inflamed and painful, the simplest of actions like climbing stairs or bending to tie a shoe-lace can suddenly seem very difficult, which naturally has a detrimental effect on a persons quality of life. Symptoms can also worsen when a degenerative tear in the meniscus or bone necrosis occur, as part of the natural history of this pathology.

Various elements can predispose people to developing the condition and increase the rate of degeneration. These include obesity, genetics, gender (women being more likely to develop OA than men), the onset of old age, overuse of the joint in physically demanding occupations, or in professional athletes and previous joint trauma.

Adiagnosis can be made using various methods including clinical criteria and radiographic findings (X-rays and scans). The American College of Rheumatology recommends a combination of history, physical examination and laboratory tests to help with an osteoarthritis treatment.

The symptoms emerge as a result of a number of processes occurring in the knee. These processes include aggravation of joint surfaces, bone thickening and spurs, muscle bracing causing fatigue with increased joint compression, as well as inflammation of the joint capsule and the surrounding structures.

People with knee OA have been shown to have weaker and less responsive quadriceps muscle. In addition, overactive hamstrings and inner-thigh muscles cause muscular imbalances around the joint and contribute to the progression of the condition. This is because the muscles are increasing the load on the damaged part of the joint and disrupting the knees normal movement. Over time it becomes harder for patients to straighten the knee. The over-active muscles can also increase the bowlegged posture, typical of many patients with osteoarthritis. By and large, these muscular imbalances exacerbate the symptoms of OA as well as playing a role in further joint damage.

Experts agree that symptom relief can be achieved if muscular imbalances can be addressed, and the muscles are trained to work more efficiently. At the initial onset of OA, doctors often advise regular light exercise along with painkillers and/or anti-inflammatory drugs to manage symptoms. If inflammation of the joint is persistent an injection of cortico-steroid is sometimes given, as well as another type of injection containing hyaluronic acid, which is thought to encourage cartilage repair. However, these treatment options are often short-lived and do not address the root of the problem.

Once therapeutic exercise has been introduced and adjustments in lifestyle made, if the OA continues to limit normal functioning in daily life, then a surgical intervention is often considered. The surgical path is usually initiated with an arthroscopic (key-hole) operation to clear-out the joint space and trim any damaged cartilage. Ultimately, the last resort is to replace the symptomatic joint with an artificial joint, which is a procedure known as total knee replacement.

The National Institute for Health and Clinical Excellence, UK advises physiotherapy and therapeutic exercises as the most effective and highly-proven treatment for reducing symptoms and slowing down the degenerative process. AposTherapy addresses the muscle bracing found around OA joints and works to maintain the range of movement and improve the coordination of those muscles that protect the knee from damage. AposTherapy also enhances how these muscles function during regular daily life, with the treatment goal being to provide the joints with optimal control and stability.

Based on the latest evidence regarding the central role biomechanics plays in osteoarthritis treatment, AposTherapy offers a novel approach for the treatment and management of the disease. AposTherapy readjusts the distribution of your body's weight away from the damaged area of the knee joint, with the aim of reducing the compressive forces and therefore, the pain. By simulating minutely uneven walking surfaces and altering the nature of the foot's point of contact with the ground, therapy retrains the body's neuromuscular system, instilling optimal patterns of motion. AposTherapy is clinically proven to reduce pain, improve patients walking patterns and contribute to a better quality of life.

Here is the original post:
Knee osteoarthritis treatment - AposTherapy

Recommendation and review posted by Bethany Smith

OK, so now we know the problem. There are certain genes needed to make a cell turn into an ES cell. Since these genes are presumably off in a skin cell, we need to turn them on again. And have all of the skin cell genes shut off too.

The way the scientists decided to do this was to add back whatever genes are needed to erase the pattern in the skin cell. (These genes are off in a skin cell.) This is a lot easier than specifically turning on this small set of genes.

The way they decided to add back the genes was with a virus. A lot of gene therapy gets done this way.

Many viruses work by sticking themselves into a cell's DNA. What the scientists planned to do was to take out some of the nonessential virus DNA and put in the necessary genes.

We're all set except we don't yet have the genes. Scientists had figured out through various means that if they added 24 different genes to a skin cell, it would turn into an ES cell. Yikes!

That is way too many to do gene therapy. So they started taking one away at a time to find the really key ones. They finally settled on 4 genes. This is still an awful lot but it is at least doable.

Last year they added back these genes and got some promising results. The skin cells took on many of the properties of ES cells but not all of them. This is encouraging but not good enough.

To fix this, they changed the skin cells to make selecting the most ES-like ones easier to do. When they did this, they were able to grow cells that essentially looked like an ES cell.

As a final test, they added some of these cells to an early mouse embryo. The embryo grew into a pup that contained different cell types derived from the original embryo and the skin cells (a chimera). This test proved these cells had been turned into something that could be used as ES cells.

Cool. But it is not a slam dunk to get this to work in people. We don't know if these same 4 genes are the ones that work in people too. And around 20% of the mice died from cancers caused by one of the added genes.

But these are problems we can deal with. Of course we'll have to continue to use "real" ES cells to figure out the genes needed to turn skin cells into ES cells. In other words, we need to destroy embryos now to stop destroying them in the future.

This research will progress very quickly. Because the experiments are easier to do than cloning, little labs all over the world can tackle these kinds of questions with no government interference. Personalized medicine may be here sooner than we think.

Link:
Embryonic stem cells from skin cells | Understanding Genetics

Recommendation and review posted by Bethany Smith

As many of you know, the pioneering, first of its kind IPSC clinical study in Japan has been suspended as I first blogged about here.

In the comments section of that blog post there has been a helpful overall discussion that has involved Dr. Masayo Takahashi, the leader of the trial. It is great that Dr. Takahashi has been participating in this discussion and I commend her for that openness.

This comment stream has been particularly important because the media have only minimally reported on this important development. There have been only a few articles in Japanese (several months ago) and as far as I know only one in English, which was posted in the last day or so in The New Scientist. Unfortunately The New Scientist article, as many have noted here, used an inflammatory title invoking a supposed cancer scare and some over-the-top language. Although that article had some bits of important info, the negative bias in the article made it overall not very helpful. Some readers of that article were likely confused by how it was written and the title.

The clinical study in question is for macular degeneration and involves the use of sheets of retinal pigmented epithelial cells (RPE) made from IPSC (e.g. see image above from RIKEN).Several of us have been discussing the suspension of this trial over on Twitter too including Dr. Takahashi (@masayomasayo). Some tweets by the community have been constructive. Others not so much.

Two main possible issues have come up in the discussion of the reasons for the trial stopping: (1) six mutations were detected in the 2nd patients IPSC and (2) significant regulatory changes are on the way in Japan that apparently in some way will delimit IPSC research there. Dr. Takahashi has indicated that the latter reason was the dominant factor in their decision to suspend the trial. The fact that the 2nd patients IPSC reportedly had six mutations that were not present in the original somatic cells warrantsfurther discussion too. For example, when and how did these mutations arise? To be clear, however, I do not see (based on the information available) that there was a cancer scare by any stretch of the imagination as The New Scientist article had indicated.

At some point a restarted version of this study will likely focus on allogeneic use of IPSC perhaps via an IPSC bank being developed by Dr. Shinya Yamanaka. For many years the consensus, most exciting aspect of IPSCs in the field was considered to be their potential for use as the basis for powerful patient-specific autologous therapies. The apparent planned shift to non-autologous clinical use of IPSC in this case raises the question of how it would be superior or substantially different to the use of hESC, other than that making IPSC does not involve the use of a leftover IVF embryo.

This development also raises a 2nd question as to whether there will be a domino effect now of other clinical studies or trials that are in the works using IPSC switching to allogeneic paths as well. In other words, is this a historic, turning point moment for the IPSC field in Japan overall away from an autologous path?Or is the switch here to allogeneic just a one time, one study decision? More info on the regulatory changes is needed to help clarify the answer to this question and the path forward as well.

Hopefully the regulatory body in Japan (Ministry of Education?) that has made or is making the relevant regulatory changes will announce them publicly in detail soon. If that information is already out there (e.g. in Japanese on the web) perhaps someone can find it and well post it here.

. Bookmark the

.

View original post here:
Historic turning point for IPS cell field in Japan ...

Recommendation and review posted by Bethany Smith

Cells are the basic building blocks of all living things. The human body is composed of trillions of cells. They provide structure for the body, take in nutrients from food, convert those nutrients into energy, and carry out specialized functions. Cells also contain the bodys hereditary material and can make copies of themselves.

Cells have many parts, each with a different function. Some of these parts, called organelles, are specialized structures that perform certain tasks within the cell. Human cells contain the following major parts, listed in alphabetical order:

Within cells, the cytoplasm is made up of a jelly-like fluid (called the cytosol) and other structures that surround the nucleus.

The cytoskeleton is a network of long fibers that make up the cells structural framework. The cytoskeleton has several critical functions, including determining cell shape, participating in cell division, and allowing cells to move. It also provides a track-like system that directs the movement of organelles and other substances within cells.

This organelle helps process molecules created by the cell. The endoplasmic reticulum also transports these molecules to their specific destinations either inside or outside the cell.

The Golgi apparatus packages molecules processed by the endoplasmic reticulum to be transported out of the cell.

These organelles are the recycling center of the cell. They digest foreign bacteria that invade the cell, rid the cell of toxic substances, and recycle worn-out cell components.

Mitochondria are complex organelles that convert energy from food into a form that the cell can use. They have their own genetic material, separate from the DNA in the nucleus, and can make copies of themselves.

The nucleus serves as the cells command center, sending directions to the cell to grow, mature, divide, or die. It also houses DNA (deoxyribonucleic acid), the cells hereditary material. The nucleus is surrounded by a membrane called the nuclear envelope, which protects the DNA and separates the nucleus from the rest of the cell.

The plasma membrane is the outer lining of the cell. It separates the cell from its environment and allows materials to enter and leave the cell.

Ribosomes are organelles that process the cells genetic instructions to create proteins. These organelles can float freely in the cytoplasm or be connected to the endoplasmic reticulum (see above).

The Genetic Science Learning Center at the University of Utah offers an interactive introduction to cells and their many functions.

Nature Educations Scitable explains what cells are made of and how they originated in their fact sheet What is a Cell?

Arizona State Universitys Ask a Biologist provides a description and illustration of each of the cells organelles.

Queen Mary University of London allows you to explore a 3-D cell and its parts.

Additional information about the cytoskeleton, including an illustration, is available from the Cytoplasm Tutorial. This resource is part of The Biology Project at the University of Arizona.

Next: What is DNA?

See the rest here:
What is a cell? - Genetics Home Reference

Recommendation and review posted by simmons

The ability to convert one cell type into another has caused great excitement in the stem cell field. Two main techniques exist: one reprograms somatic cells into pluripotent stem cells (iPS cells), the other converts somatic cells directly into other types of specialized cells (transdifferentiation). These techniques raise high hopes that patient-personalized cell therapies will become a reality in the not-so-distant future.

The first technique, developed by Yamanaka in 2006, makes it possible to convert essentially any cell type in the body back into pluripotent stem cells that are almost identical to embryonic stem cells. This is done by adding a quartet of proteins: the transcription factors Oct4, Sox2, Klf4 and Myc. The resulting iPS cells can be grown and multiplied almost indefinitely without losing their potential to differentiate (or change) into a broad range of cell types. If a clinician wanted to use this technology to treat a patient with say, Parkinson's disease, she/he would prepare a skin biopsy, grow skin-derived cells called fibroblasts in the lab, introduce the Yamanaka combination of four proteins and wait a couple of months for the formation of stable populations or iPS cell lines. Since iPS cells can proliferate indefinitely, they can be isolated relatively easily and a small initial population can be used to produce a large number of cells. In our hypothetical Parkinsons treatment, the multiplied iPS cells would then be made to differentiate into dopaminergic neurons, the cell type that is deficient in Parkinson's patients. As a final step the neurons would be purified and injected back into the patient.

Comparison of iPS reprogramming and transdifferentiation: These processes might eventually be applied in the clinic for cell replacement therapies.

An alternative to the iPS procedure is transdifferentiation. This approach uses transcription factors to convert a given cell type directly into another specialized cell type, without first forcing the cells to go back to a pluripotent state. Research in the 1980s and 90s showed that fibroblasts can be converted directly into muscle cells at very high efficiencies using the transcription factor MyoD. Similarly, scientists found they could use a transcription factor called C/EBP alpha to turn lymphocytes into macrophages (different types of white blood cell). However, this transdifferentiation approach has only more recently taken off in the stem cell community. One reason for the slow start is that it took the Yamanaka experiments on iPS cells to convince many skeptics that cell reprogramming is possible at all. Another is that for a long time it seemed that direct conversions could only be achieved between 'sister cells', such as between two types of blood cells. The relationship between cell types is sometimes pictured as a developmental or epigenetic landscape.

:Landscape of development: The four main germ layers in which cells develop are divided by tectonic plates. Transitions between cell types are hardest when they cross over tectonic plates. See also Graf & Enver, 2009 and Waddington, 1957.

In this view, pluripotent cells (iPS cells and embryonic stem cells) sit at the very top of the landscape and can produce cells that roll down the valleys to convert into the different types of specialized cells sitting on the bottom. Once the cells are settled in a particular area, travelling across a mountain ridge into a different region to become an unrelated cell type is a tough challenge, but as mentioned before, sister or neighbouring cell types can be moved relatively easily over a small hill from one neighbouring valley to the next, given the right encouragement. This restriction to 'small jumps' between related cell types kept transdifferentiation within the realm of basic research studies. Then, in 2010, another barrier was broken when a group of researchers at Stanford demonstrated that a combination of three neural transcription factors can induce 'large jumps' between distantly related cell types by converting fibroblasts into functional neurons, cell types that belong to different germ layers. This study showed that cells can be pushed to traverse tectonic plates, opening up the prospect that any desired specialized cell could be generated from essentially any other cell type, once the right transcription factor formula is known. Since then, several other transitions across germ layers have been reported.

So, which of the two approaches iPS or transdifferentiation will make it into the clinic, and which will be first? Because both technologies are patient-specific, there is virtually no risk of immune rejection. However, there are a number of hurdles that must be taken regardless of the technique used. For example, reprogrammed cells must be free of vectors inserted into the DNA that can potentially cause mutations and thus cancer. The cells produced must also be fully functional, engraft efficiently after transplantation and survive long-term. For these and other reasons, not all degenerative diseases might be amenable to treatment with cell replacement strategies.

The iPS approach has the advantage that it permits obtaining large numbers of cells. Also, genetic defects can be corrected at the iPS cell stage, meaning that specialized cells made for the patient would no longer have the defect. A disadvantage is its complexity, high costs and the length of time required to produce first iPS cells and then the specialized cells needed for transplantation. There is also a risk that residual iPS cells in the transplant could cause tumors. However, recently there have been major advances to bring pluripotent cell technology closer to the clinic. For example, in ongoing clinical trials, teams in the US and Japan have transplanted retinal pigmented epithelium derived from embryonic and iPS cell cultures into the eyes of patients with inherited or acquired macular degeneration and preliminary results about improving vision are encouraging. The eye is a privileged site for transplantation since it is largely protected from immune attack. In other ongoing efforts teams in Japan, USA and elsewhere are developing iPS cell derived platelets to prevent thrombocytopenia, such as often occurs after chemotherapy of cancer. A major advantage of using platelets is that they have no nuclei, essentially eliminating cancer risk after transplantation. Other labs are engaged in developing methods to generate dopaminergic neurons and insulin-producing cells from pluripotent cells with the goal to eventually ameliorate or even cure Parkinsons disease and diabetes.

The main advantages of converting a specialized cell directly into another are the relative simplicity and short times required, reducing the costs in a clinical setting. However, most current protocols use retro- or lentiviral vectors to introduce combinations of transcription factors, with a danger of introducing undesired mutations. Here a promising alternative approach is to induce cell fate conversions by transiently expressing microRNAs (Victor et al., Neuron 2014), although this method is so far is limited to the generation of specific types of neurons. More generally, it is presently unclear whether it will be possible to generate the large numbers of specialized cells required for cell therapy via the transdifferentiation route, and whether the new cell types are of similar quality as those generated from pluripotent cells.

In conclusion, it can safely be predicted that the iPS approach will make it into the clinic first. Time will tell
whether specialized cells generated by direct cell conversions will also be eventually used for cell therapy.

Related articles on EuroStemCell:

More from Thomas Graf:

Scientific papers The research papers mentioned in the above article:

Generation of human striatal neurons by microRNA-dependent direct conversion of fibroblasts. Victor MB, Richter M, Hermanstyne TO, Ransdell JL, Sobiesky C, Deng PY, Klyachko VA, Nerbonne, JM and Yoo AS. Neuron, Neuron 84, 311-323 (2014)

Scientific review articles of interest (may require subscription):

First use of the landscape metaphor described above:

Landscape diagram provided by Debbie Maizels of Zoobotanica. Fibroblast image (header) by Tilo Kunath.

Read more:
Cell replacement therapies: iPS technology or ...

Recommendation and review posted by sam

Male hypogonadism means the testicles don't produce enough of the male sex hormone testosterone. There are two basic types of hypogonadism:

Either type of hypogonadism may be caused by an inherited (congenital) trait or something that happens later in life (acquired), such as an injury or an infection. At times, primary and secondary hypogonadism can occur together.

Common causes of primary hypogonadism include:

In secondary hypogonadism, the testicles are normal but function improperly due to a problem with the pituitary or hypothalamus. A number of conditions can cause secondary hypogonadism, including:

Concurrent illness. The reproductive system can temporarily shut down due to the physical stress of an illness or surgery, as well as during significant emotional stress. This is a result of diminished signals from the hypothalamus and usually resolves with successful treatment of the underlying condition.

The rate at which testosterone declines varies greatly among men. As many as 30 percent of men older than 75 have a testosterone level that's below the normal range of testosterone in young men, according to the American Association of Clinical Endocrinologists. Whether treatment is necessary remains a matter of debate.

.

Go here to see the original:
Male hypogonadism Causes - Mayo Clinic

Recommendation and review posted by Bethany Smith

Inflammation is a process by which the body's white blood cells and substances they produce protect us from infection with foreign organisms, such as bacteria and viruses.

However, in some diseases, like arthritis, the body's defense system -- the immune system -- triggers an inflammatory response when there are no foreign invaders to fight off. In these diseases, called autoimmune diseases, the body's normally protective immune system causes damage to its own tissues. The body responds as if normal tissues are infected or somehow abnormal.

Some, but not all, types of arthritis are the result of misdirected inflammation. Arthritis is a general term that describes inflammation in the joints. Some types of arthritis associated with inflammation include the following:

Other painful conditions of the joints and musculoskeletal system that may not be associated with inflammation include osteoarthritis, fibromyalgia, muscular low back pain, and muscular neck pain.

Symptoms of inflammation include:

Often, only a few of these symptoms are present.

Inflammation may also be associated with general flu-like symptoms including:

When inflammation occurs, chemicals from the body's white blood cells are released into the blood or affected tissues to protect your body from foreign substances. This release of chemicals increases the blood flow to the area of injury or infection, and may result in redness and warmth. Some of the chemicals cause a leak of fluid into the tissues, resulting in swelling. This protective process may stimulate nerves and cause pain.

The increased number of cells and inflammatory substances within the joint cause irritation, swelling of the joint lining and, eventually, wearing down of cartilage (cushions at the end of bones).

Inflammatory diseases are diagnosed after careful evaluation of the following:

Read more from the original source:
About Inflammation - WebMD

Recommendation and review posted by Bethany Smith

What Is Inflammation?

When you think of arthritis, you think of inflammation. Inflammation is a process in which the body's white blood cells and immune proteins help protect us from infection and foreign substances such as bacteria and viruses.

In some diseases, however, the body's defense system (immune system) triggers an inflammatory response when there are no foreign substances to fight off. In these diseases, called autoimmune diseases, the body's normally protective immune system causes damage to its own tissues. The body responds as if normal tissues are infected or somehow abnormal.

Some, but not all types of arthritis, are the result of misdirected inflammation. Arthritis is a general term that describes inflammation in joints. Some types of arthritis associated with inflammation include:

The most common form of arthritis called osteoarthritis (also known as degenerative arthritis) is a bit of a misnomer. It is not believed that inflammation plays a major role in osteoarthritis. Other painful conditions of the joints and musculoskeletal system that are not associated with inflammation include fibromyalgia, muscular low back pain, and muscular neck pain.

The symptoms of inflammation include:

Often, only a few of these symptoms are present.

Inflammation may also be associated with general "flu"-like symptoms including:

When inflammation occurs, chemicals from the body are released into the blood or affected tissues. This release of chemicals increases the blood flow to the area of injury or infection and may result in redness and warmth. Some of the chemicals cause a leak of fluid into the tissues, resulting in swelling. This process may stimulate nerves and cause pain.

Increased blood flow and release of these chemicals attract white blood cells to the sites of inflammation. The increased number of cells and inflammatory substances within the joint can cause irritation, wearing down of cartilage (cushions at the end of bones), and swelling of the joint lining (synovium).

Visit link:
Arthritis Inflammation Causes, Symptoms, and Treatments

Recommendation and review posted by Bethany Smith

About Us

Learn more about Cell Therapy & Regenerative Medicine.

What is a Neurosphere?

CTRM provides services to develop and manufacture novel cellular therapy.

The Cell Therapy and Regenerative Medicine Program (CTRM) at the University of Utah provides the safest, highest quality products for therapeutic use and research. Our goals are to facilitate the availability of cellular and tissue based therapies to patients by bridging efforts in basic research, bioengineering and the medical sciences. As well as assemble the expertise and infrastructure to address the complex regulatory, financial and manufacturing challenges associated with delivering cell and tissue based products to patients.

To support hematopoietic stem cell transplants and to deliver innovative cellular and tissue engineered products to patients by providing comprehensive bench to bedside services that coordinate the efforts of clinicians, researchers, and bioengineers.

Product quality, safety and efficacy; Optimization of resource utilization; Promotion of productive collaborations; Support of innovative products; and Adherence to scientific and ethical excellence.

The Center of Excellence for the state of Utah that translates cutting-edge cell therapy and engineered tissue based research into clinical products that extend and improve the quality of life of individuals suffering from debilitating diseases and injuries.

The rest is here:
Cell Therapy & Regenerative Medicine - University of Utah ...

Recommendation and review posted by simmons

For many years, the most commonly prescribed drug in the nation was a synthetic estrogen made from horses urine (Premarin). Premarin in pill form is offered in five different dosages. In recent years, studies have linked negative outcomes to conventional hormone replacement therapy, such as increased risk of cancer and heart disease. Today, conventional hormone therapy is approached more cautiously.

Recent years have seen the emergence of bioidentical hormone replacement therapy, which takes a more individualized, natural approach to hormone replacement. In bioidentical hormone replacement therapy (BHRT), hormones are biologically identical to human hormones on a molecular level, which is believed to help the body accept the hormone more effectively and avoid side effects commonly experienced with synthetic hormones. Additionally, bioidentical hormones are prescribed on a case-by-case basis based on the specific dosage needs of each patient. Instead of just five dosage options, none of which may be right for you, your Amen Clinics doctor can determine any dose that you specifically need and it will get made for you. This individualized approach makes far better sense than a one size fits all approach no two people are exactly the same, so why would their hormone levels be? And since our bodies are so sensitive to hormone levels, precision dosages are ideal.

At Amen Clinics, we offer individualized dosages and combinations of the following hormones, which we carefully administer based on your unique hormone profile determined in yourbiomedical evaluation.

Estrogen is the major female sex hormone (though men have it, too). When a woman doesnt have enough of it, it impacts her libido, her immune system, her mental health and her heart health, to name a few. Menopause is the time in a womans life when estrogen production naturally falls off, leading to such common side effects as hot flashes, forgetfulness, mood swings, vaginal dryness and depression. This is why menopause is the time in life when most women think about hormone replacement therapy. Estrogen replacement has been shown in studies to improve cognition in post-menopausal women. It can also normalize the ups and downs of menopause and help women regain and maintain a feeling of normalcy and wellbeing.

Much more than a female sex hormone, progesterone can support GABA, the brains relaxation neurotransmitter (progesterone receptors are highly concentrated in the brain). We like to think of progesterone as the feel-good hormone. When progesterone is low, women can experience anxiety and depression, sleep difficulty and bone loss. Many women can become what is known as estrogen dominant and can suffer a litany of problems due to this relative lack of progesterone (think PMS). Progesterone replacement can be incredibly helpful for women who have problems that get worse with their menstrual cycle.

The primary male sex hormone, testosterone in men is responsible for sex drive, muscle mass, bone density and an overall sense of wellbeing. Andropause is the gradual decrease of testosterone production in older men, a little bit like menopause is to women. With its anti-inflammatory properties, testosterone has been connected to chronic pain. In women, testosterone helps protect the nervous system and ward off depression and Alzheimers disease.

The thyroid gland drives the production of many neurotransmitters that run the brain. If your thyroid is low, you feel sluggish, mentally foggy and depressed; if its high, you feel anxious, jittery and irritable. Experts conservatively estimate that one-third of all depressions are directly related to thyroid imbalance. Low thyroid function remains one of the most under-diagnosed medical conditions in the country and proper evaluation and treatment of this condition is vital to both mental and physical health.

Dehydroepiandrosterone (DHEA) is a precursor hormone to the sex hormones, meaning testosterone, estrogen and progesterone are all converted from DHEA. Stress can take a toll on DHEA levels, which when low have been linked to weight gain, depression and chronic pain. Conversely, studies show that higher levels of DHEA as you age are associated with longevity.

In some severe cases of fatigue and excessive stress over a long period of time, the adrenal glands may become fatigued or unable to cope with the bodys demand for adrenal hormones. There are natural ways to support the adrenal gland, but in some cases replacing adrenal hormones with prescription medications like cortisol can have a dramatic effect on improving quality of life. Adrenal hormones should be evaluated and replaced by an expert in hormone replacement therapy.

Read the rest here:
Bioidentical Hormone Replacement Therapy - Amen Clinics

Recommendation and review posted by Bethany Smith

"Half of your DNA is determined by your mother's side, and half is by your father. So, if you seem to look exactly like your mother, perhaps some DNA that codes for your body and how your organs run was copied from your father's genes."

So close, yet so far. This quote, taken from a high school student's submission in a national essay contest, represents just one of countless misconceptions many people have about the basic nature of heredity and how our bodies read the instructions stored in our genetic material (Shaw et al. 2008). Although it is true that half of our genome is inherited from our mother and half from our father, it is certainly not the case that only some of our cells receive instructions from only some of our DNA. Rather, every diploid, nucleated cell in our body contains a full complement of chromosomes, and our specific cellular phenotypes are the result of complex patterns of gene expression and regulation.

In fact, it is through this dynamic regulation of gene expression that organismal complexity is determined. For example, when the first draft of the human genome was published in 2003, scientists were surprised to find that sequence analysis revealed only around 25,000 genes, instead of the 50,000 to 100,000 genes originally hypothesized. Clues from studies examining the genomic structure of a variety of organisms suggest that much of human uniqueness lies not in our number of genes, but instead in our regulatory control over when and where certain genes are expressed.

Additional examination of different organisms has revealed that all genomes are more complex and dynamic than previously thought. Thus, the central dogma proposed by Francis Crick as early as 1958 that DNA encodes RNA, which is translated into protein is now considered overly simplistic. Today, scientists know that beyond the three types of RNA that make the central dogma possible (mRNA, tRNA, and rRNA), there are many additional varieties of functional RNA within cells, many of which serve a number of known (and unknown) functions, including regulation of gene expression. Understanding how the structure of these and other nucleic acids belies their function at both the macroscopic and microscopic levels, and discovering how that understanding can be manipulated, is the essence of where genetics and molecular biology converge.

Detailed comparative analysis of different organisms' genomes has also shed light on the genetics of evolutionary history. Using molecular approaches, information about mutation rates, and other tools, scientists continue to add more detail to phylogenetic trees, which tell us about the relationships between the marvelous variety of organisms that have existed throughout the planet's history. Examining how different processes shape populations through the culling or maintenance of deleterious or beneficial alleles lies at the heart of the field of population genetics.

Within a population, beneficial alleles are typically maintained through positive natural selection, while alleles that compromise fitness are often removed via negative selection. Some detrimental alleles may remain, however, and a number of these alleles are associated with disease. Many common human diseases, such as asthma, cardiovascular disease, and various forms of cancer, are complex-in other words, they arise from the interaction between multiple alleles at different genetic loci with cues from the environment. Other diseases, which are significantly less prevalent, are inherited. For instance, phenylketonuria (PKU) was the first disease shown to have a recessive pattern of inheritance. Other conditions, like Huntington's disease, are associated with dominant alleles, while still other disorders are sex-linked-a concept that was first identified through studies involving mutations in the common fruit fly. Still other diseases, like Down syndrome, are linked to chromosomal aberrations that can be identified through cytogenetic techniques that examine chromosome structure and number.

Our understanding in all these fields has blossomed in recent years. Thanks to the merger of molecular biology techniques with improved knowledge of genetics, scientists are now able to create transgenic organisms that have specific characters, test embryos for a variety of traits in vitro, and develop all manner of diagnostic tests capable of identifying individuals at risk for particular disorders. This interplay between genetics and society makes it crucial for all of us to grasp the science behind these techniques in order to better inform our decisions at the doctor, at the grocery store, and at home.

As we seek to cultivate this understanding of modern genetics, it is critical to remember that the misconceptions expressed in the aforementioned essay are the same ones that many individuals carry with them. Thus, when working together, faculty and students need to explore not only what we know about genetics, but also what data and evidence support these claims. Only when we are equipped with the ability to reach our own conclusions will our misconceptions be altered.

-Kenna Shaw, Ph.D

Image: Mehau Kulyk/Science Photo Library/Getty Images.

Shaw, K. (2008) Genetics. Nature Education 2(10):1

Read this article:
Genetics | Learn Science at Scitable

Recommendation and review posted by Bethany Smith

What Is Genetic Counseling?

Typically, a new couple that wants to start having children may have some inhibitions with regard to the genes they pass on to children. Perhaps one of the parents has a family history of breast cancer or a degenerative disorder. These are risks the parents might want to know and prepare for when beginning a family. Genetic counselors can help parents understand the risks unique to each couple by analyzing their genetic data and predicting possible outcomes for their offspring.

As a genetic counselor, you would learn how to properly read a family history in order to better assess the risk to children. You will also know what steps may help to prevent disorders and diseases children face. For example, if you recognize there is an increased risk of Down syndrome, you may suggest the mother consume certain type of nutrients like folic acid to mitigate that risk.

Genetic counselors are required to go through a long training process. Typically, this starts with an undergraduate degree culminating in a Bachelor of Science in either nursing or biology. In reality, any type of scientific upbringing can be a useful introduction to the language of genetic counseling.

After obtaining an undergraduate degree, you must pursue graduate education that will give more specialized knowledge in disease and genetics. This typically results in obtaining a Masters degree in genetic counseling. There are approximately 30 graduate programs that offer training in genetic counseling in the United States. They are rather competitive and offer the education you will need to be successful in the field.

Beyond your graduate studies, you may find it necessary to pursue license and certification. Certain states require that counselors have specific licenses before being allowed to practice. A certification through the American Board of Genetic Counseling can make you a more highly valued employee or job candidate.

There are many environments appropriate for the training you receive as a genetic counselor. If you choose to stay in the field, you will likely end up working in a clinical or hospital setting. This is where you would be helping families, and you will likely pick a specialty in this environment. Some specialties include cancer, prenatal diagnosis, cardiovascular disease, and neurological disorders among others.

Biotech labs also have need for genetic counselors due to their expertise in disorders. There are many companies that specialize in the production of tests for genetic problems, and counselors are needed in this development for their abilities to interpret genetic data. Another arm of biotech that employs genetic counselors is diagnostics. Specifically, if a doctor orders a test from a lab, somebody needs to be able to communicate the results the the doctor accurately and clearly.

Genetic counselors are also in demand in the non-laboratory fields. Many counselors will work to influence policy in government, or they will become teachers to educate the next generation. Some counselors even go into research where their specialized skill set makes them valuable in the clinical and basic research areas.

A genetic counselor is not in as high a demand for time as other health professionals. You will not be on call to act at a moments notice. You work around appointments of patients so you can give adequate time for discussion. This can afford regular hours that do not shift. This is a rare type of job in a hospital where injuries and disease do not wait for the professionals.

The median salary for genetic counselors in the United States was approximately 55,000 dollars per year as of 2006. This is accurate for counselors working in the hospital setting. This figure increases with experience. The median salary for a counselor with nine years on the job runs nearly 62,000 dollars. In addition to the salary, genetic counselors find themselves in high demand throughout the country. You can find a job in nearly any medium-sized or larger town or city. This can be a major benefit if you would like to lead a relatively quiet life.

Higher salaries can be found in other realms such as industry and research. The median salary for counselors in these fields is 71,000 dollars. Opportunities and geographic flexibility will probably be more limited if you aspire to this higher salary.

National Society of Genetic Counselors: This group promotes the interests of its members who are made up primarily of genetic counselors.

Genetic Counseling programs: This is a list of the different genetic counseling graduate programs accredited by the American Board of Genetic Counseling.

Originally posted here:
Genetic Counseling | Top Counseling Schools

Recommendation and review posted by sam

Researchers have been working for decades to bring gene therapy to the clinic, yet very few patients have received any effective gene-therapy treatments. But that doesn't mean gene therapy is an impossible dream. Even though gene therapy has been slow to reach patients, its future is very encouraging. Decades of research have taught us a lot about designing safe and effective vectors, targeting different types of cells, and managing and minimizing immune responses in patients. We've also learned a lot about the disease genes themselves. Today, many clinical trials are underway, where researchers are carefully testing treatments to ensure that any gene therapy brought into the clinic is both safe and effective.

Below are some gene therapy success stories. Successes represent a variety of approachesdifferent vectors, different target cell populations, and both in vivo and ex vivo approachesto treating a variety of disorders.

Sebastian Misztal was a patient in a hemophilia gene therapy trial in 2011. Following the treatment, Misztal no longer had spontaneous bleeding episodes. Credit: UCLH/UCL NIHR Biomedical Research Centre

Several inherited immune deficiencies have been treated successfully with gene therapy. Most commonly, blood stem cells are removed from patients, and retroviruses are used to deliver working copies of the defective genes. After the genes have been delivered, the stem cells are returned to the patient. Because the cells are treated outside the patient's body, the virus will infect and transfer the gene to only the desired target cells.

Severe Combined Immune Deficiency (SCID) was one of the first genetic disorders to be treated successfully with gene therapy, proving that the approach could work. However, the first clinical trials ended when the viral vector triggered leukemia (a type of blood cancer) in some patients. Since then, researchers have begun trials with new, safer viral vectors that are much less likely to cause cancer.

Adenosine deaminase (ADA) deficiency is another inherited immune disorder that has been successfully treated with gene therapy. In multiple small trials, patients' blood stem cells were removed, treated with a retroviral vector to deliver a functional copy of the ADA gene, and then returned to the patients. For the majority of patients in these trials, immune function improved to the point that they no longer needed injections of ADA enzyme. Importantly, none of them developed leukemia.

Gene therapies are being developed to treat several different types of inherited blindnessespecially degenerative forms, where patients gradually lose the light-sensing cells in their eyes. Encouraging results from animal models (especially mouse, rat, and dog) show that gene therapy has the potential to slow or even reverse vision loss.

The eye turns out to be a convenient compartment for gene therapy. The retina, on the inside of the eye, is both easy to access and partially protected from the immune system. And viruses can't move from the eye to other places in the body. Most gene-therapy vectors used in the eye are based on AAV (adeno-associated virus).

In one small trial of patients with a form of degenerative blindness called LCA (Leber congenital amaurosis), gene therapy greatly improved vision for at least a few years. However, the treatment did not stop the retina from continuing to degenerate. In another trial, 6 out of 9 patients with the degenerative disease choroideremia had improved vision after a virus was used to deliver a functional REP1 gene.

Credit: Jean Bennett, MD, PhD, Perelman School of Medicine, University of Pennsylvania; Manzar Ashtari, Ph.D., of The Children's Hospital of Philadelphia, Science Translational Medicine.

People with hemophilia are missing proteins that help their blood form clots. Those with the most-severe forms of the disease can lose large amounts of blood through internal bleeding or even a minor cut.

In a small trial, researchers successfully used an adeno-associated viral vector to deliver a gene for Factor IX, the missing clotting protein, to liver cells. After treatment, most of the patients made at least some Factor IX, and they had fewer bleeding incidents.

Patients with beta-Thalassemia have a defect in the beta-globin gene, which codes for an oxygen-carrying protein in red blood cells. Because of the defective gene, patients don't have enough red blood cells to carry oxygen to all the body's tissues. Many who have this disorder depend on blood transfusions for survival.

In 2007, a patient received gene therapy for severe beta-Thalassemia. Blood stem cells were taken from his bone marrow and treated with a retrovirus to transfer a working copy of the beta-globin gene. The modified stem cells were returned to his body, where they gave rise to healthy red blood cells. Seven years after the procedure, he was still doing well without blood transfusions.

A similar approach could be used to treat patients with sickle cell disease.

In 2012, Glybera became the first viral gene-therapy treatment to be approved in Europe. The treatment uses an adeno-associated virus to deliver a working copy of the LPL (lipoprotein lipase) gene to muscle cells. The LPL gene codes for a protein that helps break down fats in the blood, preventing fat concentrations from rising to toxic levels.

Several promising gene-therapy treatments are under development for cancer. One, a modified version of the herpes simplex 1 virus (which normally causes cold sores) has been shown to be effective against melanoma (a skin cancer) that has spread throughout the body. The treatment, called T-VEC, uses a virus that has been modified so that it will (1) not cause cold sores; (2) kill only cancer cells, not healthy ones; and (3) make signals that attract the patient's own immune cells, helping them learn to recognize and fight cancer cells throughout the body. The virus is injected directly into the patient's tumors. It replicates (makes more of itself) inside the cancer cells until they burst, releasing more viruses that can infect additional cancer cells.

A completely different approach was used in a trial to treat 59 patients with leukemia, a type of blood cancer. The patients' own immune cells were removed and treated with a virus that genetically altered them to recognize a protein that sits on the surface of the cancer cells. After the immune cells were returned to the patients, 26 experienced complete remission.

Patients with Parkinson's disease gradually lose cells in the brain that produce the signaling molecule dopamine. As the disease advances, patients lose the ability to control their movements.

A small group of patients with advanced Parkinson's disease were treated with a retroviral vector to introduce three genes into cells in a small area of the brain. These genes gave cells that don't normally make dopamine the ability to do so. After treatment, all of the patients in the trial had improved muscle control.

Go here to read the rest:
Gene Therapy Successes - Learn Genetics

Recommendation and review posted by Bethany Smith

The Johns Hopkins MS in Biotechnology offers a comprehensive exploration of basic science, applied science, and lab science, with an industry focus. The program gives you a solid grounding in biochemistry, molecular biology, cell biology, genomics, and proteomics.

This 10-course degree program is thesis-optional, part-time, and can be completed fully online. Our curriculum will prepare you to engage in research, lead lab teams, make development and planning decisions, create and apply research modalities to large projects, and take the reins of management and marketing decisions.

Many students like the flexibility of the general degree; it allows them to tailor the coursework to meet their individual career goals. The program also offers five different concentrations: biodefense, bioinformatics, biotechnology enterprise, regulatory affairs, or drug discovery.

Onsite courses are taught during evenings or weekends at either the universitys Homewood Campus in Baltimore, MD or the Montgomery County Campus in Rockville, MD. Courses are also offered in our state-of-the-art lab.

Each year, students of the MS in Biotechnology have the opportunity to apply for a fellowship with the National Cancer Institute at NIH. This fellowship, which requires onsite research as well as onsite courses for the Molecular Targets and Drug Discovery Technologies concentration at the Montgomery Count Campus, awards students with a stipend while providing them with useful experience in the arena of cancer research. Learn more about this fellowship and apply here.

Note: We currently are not accepting applications to the online Master of Science in Biotechnology from students who reside in Kansas. Students should be aware of additional state-specific information for online programs.

Originally posted here:
Master of Science in Biotechnology | Advanced Academic ...

Recommendation and review posted by sam

The biotechnology program at Ivy Tech is taught by instructors with real-world experience. Students will use state-of-the-art laboratories that are equipped with instrumentation, supplies and equipment for an effective hands-on laboratory experience.

Classes focus on teaching a variety of procedures necessary to execute laboratory projects assigned in the students chosen field. Students will spend a significant amount of class time working hands-on doing laboratory activities either by themselves or in small groups with the ability to have one-on-one time with the instructor.

The Biotechnology Program prepares students for careers in a variety of life science and manufacturing settings including research, quality control, pharmaceuticals, and medical devise manufacturing.

Graduates will have the foundation needed to transfer to earn a bachelors degree or move right in to local, high-paying jobs in the community, including with some of our industry partners like Dow Agroscience, Eli Lilly, Cook Pharmica, Midwest Compliance Laboratories, and more. These great partnerships lead to our graduates high job placement rate.

*According to a Battelle/Biotechnology Industry Organization (BIO) Report State Biosciences Jobs, Investments and Innovation 2014.

See original here:
Biotechnology - Ivy Tech Community College of Indiana

Recommendation and review posted by sam

Simply put, biotechnology is a toolbox that solves problems.

Biotechnology leverages our understanding of the natural sciences to create novel solutions for many of our world problems. We use biotechnology to grow our food to feed our families. We use biotechnology to make medicines and vaccines to fight diseases. And we are now turning to biotechnology to find alternatives to fossil-based fuels for a cleaner, healthier planet.

We often think of biotechnology as a new area for exploration, but its rich history actually dates back to 8000 B.C when the domestication of crops and livestock made it possible for civilizations to prosper. The 17th century discovery of cells and later discoveries of proteins and genes had a tremendous impact on the evolution of biotechnology.

Biotechnology is grounded in the pure biological sciences of genetics, microbiology, animal cell cultures, molecular biology, embryology and cell biology. The discoveries of biotechnology are intimately entwined in the industry sectors for development in agricultural biotechnology, biofuels, biomanufacturing, human health, nanobiotechnology, regenerative medicine and vaccines.

The foundation of biotechnology is based in our understanding of cells, proteins and genes.

Biologists study the structure and functions of cellswhat cells do and how they do it. Biomedical researchers use their understanding of genes, cells and proteins to pinpoint the differences between diseased and healthy dells. Once they discover how diseased cells are altered, they can more easily develop new medical diagnostics, devices and therapies to treat diseases and chronic conditions.*

*Paraphrased from How Biology Drives Biotechnology; Amgen Scholarsthe Scientist.

See original here:
What is Biotechnology? | North Carolina Biotech Center

Recommendation and review posted by sam